Pediatric Spots

Pediatric Spots

Saad Saleh Al Ani

MBChB, CAB Ped, IBCLC

Professor of Pediatric
Senior Pediatric Consultant
Head, Pediatric Department
Khorfakkan Hospital
Sharjah Medical District
Ministry of Health, UAE

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Pediatric Spots
First Edition: 2016
ISBN 978-93-5152-931-6
Printed at

PREFACE
As pediatric science is growing and various new researches are
introduced, specially for those preparing their postgraduate study
in pediatrics, family medicine, general practice and those who treat
children during their daily clinic, so this book is useful to understand
and memorize them to use efficiently in their study. This is designed
and prepared with the purpose to help them in a simple and smooth
way.
I hope this book will help them to get the desired benefit, and to build
their knowledge and skills and to step up in their ways to progress.

Saad Saleh Al Ani

CONTENTS
Chapter 1: Accidents and Emergency 1
1.1. Estimate the Bruises Age by Color 1
1.2. Causes of Miosis Include {(CO) 2P3S} 1
1.3. Causes of Mydriasis Include (AAAS) 1
1.4. Causes of Diaphoretic Skin (SOAP) 2
1.5. Causes of Red Skin 2
1.6. Causes of Blue Skin 2
1.7. Activated Charcoal is Ineffective or Contraindicated
in the Following: (CHEMICAL CamP) 2
1.8. The Symptoms of Acetaminophen Overdose
Occur in Four Stages 2
1.9. Symptoms of Anticholinergics Overdose 3
1.10. The Symptoms of Iron Overdose 3
1.11. Opiate Overdose 4
1.12. Salicylates Poisoning 4
1.13. Theophylline Overdose 5
1.14. Tricyclic Antidepressant Ingestion 5
1.15. Caustic Substance Ingestion 5
1.16. Ethanol Ingestion 6
1.17. Methanol Ingestion 6
1.18. Ethylene Glycol Ingestion 7
1.19. Organophosphate Ingestion 8
1.20. Hydrocarbon Ingestion 8
1.21. Burn 8
1.22. Head Injury 10
1.23. Grade of Ankle Sprains 11
Chapter 2: Cardiology
2.1. ECG Findings 12
2.2. Normal or Innocent Murmurs 30
2.3. Cardiac Catheterization; Normal Heart 31
2.4. Congenital Heart Diseases 31

12

Chapter 3: Dentistry
3.1. The Times of Eruption of the Primary and Permanent Teeth 41
3.2. Angle Classification of Occlusion 42
3.3. Traumatic Oral Injury 43
3.4. Discolored Teeth 44
3.5. Conditions Associated with Natal Teeth 44
3.6. Systemic Problems that Cause Aggressive
Periodontitis in Children 44
3.7. Differential Diagnosis of Oral Ulceration 44
3.8. Bilateral Enlargement of the Submaxillary Glands 45
3.9. Benign Salivary Gland Hypertrophy 45
3.10. Xerostomia 45

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Chapter 4: Dermatology
4.1. Skin Lesions 46
4.2. Nonpathological Neonatal Skin Lesions 51
4.3. Disorders with Caf-au-lait Spots 55

46

Chapter 5: Endocrinology
5.1. Relationship between Average Blood Glucose Level (mmol/L)
and Glycosylated Hemoglobin (HbA1c) 56
5.2. Drugs and Conditions that Affect Thyroid Function Tests 56
5.3. Overview of a Thyroid Function Workup 57
5.4. Symmetrical Goiter 57
5.5. Thyroid Scans are Used for the Following Reasons 57
5.6. Relationship between Calcium, Phosphate and
Vitamin D Metabolism 58
5.7. Differential Diagnosis of Rickets 58
5.8. Insulin Therapy 58

56

Chapter 6: Fluids, Electrolytes and Nutrition

6.1. Glucose in the Maintenance Fluids 61
6.2. Goals of Maintenance Fluids 61
6.3. Body Weight Method for Calculating Daily
Maintenance Fluid Volume 61
6.4. Hourly Maintenance Water Rate 61
6.5. Composition of Intravenous Fluids 62
6.6. Natural Sources of Water Loss 62
6.7. Adjustments in Maintenance Water 62
6.8. Replacement Fluid for Diarrhea 63
6.9. Replacement Fluid for Emesis or Nasogastric Losses 63
6.10. Adjusting Fluid Therapy for Altered Renal Output 63
6.11. Clinical Evaluation of Dehydration 64
6.12. Fluid Management of Dehydration 64
6.13. Monitoring Therapy 65
6.14. Treatment of Hypernatremic Dehydration 65
6.15. Treatment of Hyponatremic Dehydration 66
6.16. A Guideline for Oral Rehydration 67
6.17. Composition of Oral Rehydration Solutions (ORS) 67
6.18. Composition of Oral Rehydration Salts Solution for Severely
Malnourished Children (ReSoMal) 67
6.19. Causes of Hypernatremia 68
6.20. Causes of Hyponatremia 69
6.21. Causes of Hyperkalemia 70
6.22. Causes of Hypokalemia 71
6.23. Causes of Hypercalcemia 72
6.24. Causes of Hyperphosphatemia 72
6.25. Causes of Hypophosphatemia 73
6.26. Causes of Hypomagnesemia 74
6.27. Systematic Evaluation of an Arterial Blood Gas Sample 75

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6.28.
6.29.
6.30.
6.31.
6.32.
6.33.
6.34.
6.35.

Plasma Osmolality 76
Basic Mechanisms of a Metabolic Acidosis 76
Causes of Metabolic Acidosis 76
Causes of Metabolic Alkalosis 77
Causes of Respiratory Acidosis 78
Causes of Respiratory Alkalosis 79
Causes of Rickets 80
Absolute and Relative Contraindications to Breastfeeding
due to Maternal Conditions 81
6.36. Formula Feeding 82
6.37. Endocrine Causes of Obesity 84
6.38. Genetic Causes of Obesity 84
Chapter 7: Gastroenterology
86
7.1. Causes of Oropharyngeal Dysphagia 86
7.2. Causes of Esophageal Dysphagia 87
7.3. Acid-Base Imbalance 87
7.4. First and Second Lines of Defense Against pH Shift 88
7.5. Derangement in Acid-Base Balance 88
7.6. Diagnosis of Acid-Base Imbalances 89
7.7. Easy Blood Gas Interpretation 90
7.8. Compensation-attempt to Normalize pH 90
7.9. Evaluation of Liver Function Tests 90
7.10. Clues for Diagnosis of Functional Abdominal Pain 91
7.11. Clues that Indicate an Organic Cause for the
Abdominal Pain 91
7.12. Holliday-Segar Formula 92
7.13. Foreign Body Ingestions 92
7.14. Certain Contraindications to Oral Replacement Therapy 92
7.15. The Rule of 2s for Meckel Diverticulum 92
7.16. Comparison of Ulcerative Colitis and Crohn Disease 93
7.17. Who is at High-Risk for Hepatitis A Infection or Complications 93
7.18. Hepatitis B (HBV) 94
7.19. Acute Hepatitis B Virus Infection with Recovery;
Typical Serology Course 94
7.20. The Rising and Falling Hepatitis B Serologic Markers
after Months of Exposure 95
7.21. The 3 Types of Carrier States Concerning Hepatitis B 95
7.22. Possible Outcomes after Hepatitis B Infection 95
7.23. Hepatitis B Scenarios 96
7.24. Types of Viral Hepatitis and their Serological Tests 96
7.25. Conditions Associated with an Increased Risk of Hepatitis C 97
7.26. Hepatitis E 97
7.27. Esophageal Atresia and Tracheoesophageal Fistula 97
7.28. Types of Esophageal Hiatal Hernia 98
7.29. Congenital Duodenal Atresia 98
7.30. Hypertrophic Pyloric Stenosis 98

Pediatric Spots

7.31. Most Common Causes of Oropharyngeal Dysphagia

(Transfer Dysphagia) 99
7.32. Most Common Causes of Esophageal Dysphagia 99
7.33. Common Causes of Emesis 99
7.34. Common Causes of Gastrointestinal Obstruction 100
7.35. Criteria for Cyclic Vomiting Syndrome 101
7.36. Complications of Vomiting 101
7.37. Common Causes of Childhood Diarrhea 101
7.38. Common Causes of Constipation 103
7.39. Chronic Abdominal Pain in Children 103
7.40. Common Causes of Gastrointestinal Bleeding in Childhood 104
Chapter 8: Genetics
8.1. Indications for Genetic Counseling 106
8.2. Pedigree Symbols 106
8.3. Autosomal Dominant (AD) Inheritance 107
8.4. Autosomal Recessive (AR) Inheritance 107
8.5. X-linked Recessive (XR) Inheritance 108
8.6. Y-linked Inheritance 109
8.7. Mitochondrial Inheritance 109
8.8. Clues that Genetic Disorder is likely 110
8.9. Indications for Chromosomal Analysis 111
8.10. Abnormal Maternal Screen Study 111
8.11. Down Syndrome Features 111
8.12. Characteristic Findings of Trisomy 18
(Edwards Syndrome) 113
8.13. Common Clinical Findings of Trisomy 13 (Patau Syndrome)
(Think of Midline Defects) 114
8.14. Turner Syndrome45, X 114
8.15. Common Clinical Findings of Fragile X Syndrome 115
8.16. Common Clinical Findings of Klinefelter Syndrome47,
XXY 115
8.17. Indications for Karyotype 115

106

Chapter 9: Growth and Development

9.1. Predicting Midparental Height in Children 117
9.2. Quick Pearls to Remember about Growth 117
9.3. Definitions of Failure to Thrive (FTT) 117
9.4. Developmental Milestones 118
9.5. Tooth Development 120
9.6. Routine Childhood Immunization Administration 120
9.7. Screening Scheme for Development Delay Upper Range 121
9.8. Expressive Language Development 122
9.9. Clues to Abnormal Speech and Language Development
by Age 122
9.10. Factors Associated with Hearing Loss in Neonates 123
9.11. Behaviors Suggestive of ADHD 123
9.12. Suggested Metabolic Syndrome Indices in Children
and Adolescents 123

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9.13. Grasping and Handedness: Facts 124

9.14. Social Learning, Self and Others, Play and Adaptive
Skills 124
9.15. Constructional and Drawing Skills 125
9.16. Importance of Skill Delays 125
9.17. The Differential Diagnosis of Delay in Motor Milestones 125
9.18. Specific Neurodevelopmental Impairments 126
9.19. Classification of Sexual Maturity States in Girls 126
9.20. Classification of Sexual Maturity States in Boys 127
Chapter 10: Hematology
10.1. Anemia Mechanism Summary 129
10.2. The Peripheral SmearSignificance of Specific Changes 130
10.3. Anemia due to Iron Deficiency vs. Anemia of Chronic 134
Inflammatory Disease (ACD)
10.4. Lab Results of Bleeding Disorders 134
10.5. Lab Results in DIC 135
10.6. Use of the Mean Corpuscular Volume (MCV) and Reticulocyte
Count in the Diagnosis of Anemia 135
10.7. Hematology and Laboratory Features of Congenital
Dyserythropoietic Anemia 136
10.8. Laboratory Studies Differentiating the Most
Common Microcytic Anemias 137
10.9. Selected Cutoff Values to Define Iron Deficiency Anemia 137
10.10. Possible Complications of Blood Transfusions 138
10.11. Inherited Causes of Lymphocytopenia 138
10.12. Causes of Red Cell Fragmentation Syndromes 139
10.13. Causes of a Raised Platelet Count (Thrombocytosis) 139
10.14. Causes of Thrombocytopenia 139
10.15. Causes of Immune Thrombocytopenia 139
10.16. Hemophilia A and BLevel of Clotting Factor
Related to Clinical Features 140
10.17. Complications Associated with Sickle Cell Trait 140

129

Chapter 11: Infectious Diseases

141
11.1. Diagnostic Criteria of Staphylococcal Toxic Shock Syndrome 141
11.2. Diphtheria 141
11.3. Late Manifestations of Congenital Syphilis 142
11.4. Definition of Streptococcal Toxic Shock Syndrome 144
11.5. Children at High-risk of Invasive Pneumococcal Infection 144
11.6. Scarlet Fever 145
11.7. Pathophysiologic Events in Postnatally Acquired
Rubella Virus Infection 145
11.8. Schematic Representation of the Development of Antibodies
to Various Epstein-Barr Virus Antigens in Patients with
Infectious Mononucleosis 146
11.9. Pathophysiologic Events in Measles, Rubella, Scarlet Fever,
and Roseola Infantum 146

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11.10. Complications of Infectious Mononucleosis 147

11.11. Definition of Positive Tuberculin Skin Testing 148
11.12. Clinical Features of Congenital Rubella, Cytomegalovirus
and Toxoplasmosis 148
11.13. Mechanisms of Bacterial Resistance to Antibiotics 149
11.14. Recommendation of Usage of Pneumococcal Polysaccharide
Vaccines (PPV) 149
11.15. Factors Associated with Mother-to-Child Transmission
(MTCT) of HIV 149
Chapter 12: Metabolic Disorders
12.1. Suspicion of Inborn Errors 151
12.2. The Classical Galactosemia (Deficiency of
Galactose-1-Phosphate Uridyltransferase) 151
12.3. Friedreich Ataxia 152
12.4. Recognition Pattern of Mucopolysaccharidosis 152
12.5. Mucopolysaccharidosis Type I (Hurler Syndrome) 152
12.6. Mucopolysaccharidosis Type II (Hunter Syndrome) 153
12.7. Phenylketonuria (PKU) 153
12.8. Metabolic Screening 154
12.9. Some of the Most Common Reasons for Referral
to a Metabolic Clinic 154
12.10. Disorders of Fatty Acid Metabolism 154
12.11. Inborn Errors of Metabolism that Cause Elevated
Blood Lactate 155
12.12. Differential Diagnosis of Hyperammonemia 155
12.13. Evaluation of Metabolic Acidosis in the Young Infant 156
12.14. Special Smell that Indicates the Inborn Error of
Metabolism (IEMs) 156
12.15. Quick References for Differential Diagnosis of Inborn
Error of Metabolism 157
12.16. Organic Acidemias 157
12.17. Fatty Acid Oxidation Defects 157
12.18. Primary Lactic Acidosis 158
12.19. Aminoacidopathies 158
12.20. Urea Cycle Defects 158
12.21. Disorders of Carbohydrate Metabolism 159
12.22. Lysosomal Storage Disorders 159
12.23. Peroxisomal Disorders 159

151

Chapter 13: Neonatology

13.1. Lethal Neonatal Dwarfism 161
13.2. Usually Nonlethal Dwarfing Conditions 161
13.3. Incidence of Malformation and Degree of Maternal
Hyperglycemia Prior to Conception 162
13.4. Known Risk Factors for Prematurity 162

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13.5. Independent Risk Factors for Increased Mortality

among Preterm Infants 162
13.6. Algorithm for Management of Baby Born to Mom with
Group B Streptococcus Infection (GBS) Prophylaxis 163
13.7. Apgar Score (After Virginia Apgar) 163
13.8. The Used Endotracheal Tube (i.e. diameter) Based on
Body Weight 164
13.9. A White Pupillary Reflex is Abnormal 164
13.10. Prechtl States of Sleep and Wakefulness in the Newborn 165
13.11. Glucose Screening 165
13.12. The Primitive Reflexes 166
13.13. The Clinical Problems Associated with Small for Gestational
Age (SGA) at Birth 166
13.14. Complications of Diabetes in Pregnancy on the
Fetuses and Infants 166
13.15. The Risk of Developing Respiratory Distress Syndrome (RDS)
Hyaline Membrane Disease (HMD) 167
13.16. Persistent Pulmonary Hypertension of the Newborn (PPHN)
The Most Commonly Identified Etiologies 167
13.17. Do Not Use Indomethacin in Treatment of Patent Ductus
Arteriosus (PDA) Conditions 167
13.18. Meconium Plugs 168
13.19. Risk Factors for Severe Hyperbilirubinemia 168
13.20. Neonatal Jaundice 168
13.21. Guidelines for Implementing Phototherapy in
Hyperbilirubinemia 169
13.22. Guidelines for Implementing Exchange Transfusion in
Hyperbilirubinemia 170
13.23. Congenital Syphilis 171
13.24. Neonatal Seizures 171
13.25. Characteristic Features of Early- and Late-onset
Neonatal Listeriosis 173
13.26. Characteristic Features of Early- and Late-onset
GBS Disease 173
13.27. Screening for Inborn Errors of Metabolism that Cause
Neonatal Seizures 173
13.28. Pathophysiology of Meconium Passage and the Meconium
Aspiration Syndrome 175
13.29. Congenital Infections 175
13.30. Neonatal Features of Maternal Drugs Intake Prenatally 176
13.31. Definitions by World Health Organization (WHO) 177
13.32. Conditions Predisposing to Birth Injury 178
13.33. The Major Clinical Features for Grading the Severity of
Hypoxic-Ischemic Encephalopathy 178
13.34. Differential Diagnosis for Hypoxic-Ischemic Encephalopathy 178
13.35. Etiology of the Small for Gestational Age (SGA) Neonate 179
13.36. Problems of the Small for Gestational Age (SGA) Neonate 179

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13.37.
13.38.
13.39.
13.40.

Etiology of the Large for Gestational Age (LGA) Neonate 179

Problems of the Large for Gestational Age (LGA) Neonate 180
Complications of Parenteral Nutrition 180
Factors Affecting the Incidence of RDS 180

Chapter 14: Nephrology

182
14.1. Most Frequent HereditaryMetabolic Diseases of Childhood 182
that Lead to End-stage Renal Disease
14.2. Causes of End-stage Renal Disease (ESRD)
Vary with the Patients Age 182
14.3. Causes of Anemia in Chronic Kidney
Disease (CKD) 182
14.4. Schwartz Formula for Estimation of
Creatinine Clearance 182
14.5. Important Concepts Used in Determining
Acid-Base Status 183
14.6. Changes in Blood ChemistryRespiratory vs
Metabolic Disorders 183
14.7. Metabolic Acidosis 184
14.8. Anion Gap and Metabolic Acidosis 184
14.9. Analysis of Acid-Base Problems 185
14.10. Persistent Asymptomatic Hematuria 186
14.11. Evaluation of Hematuria in ChildrenTests
for All Children at Initial Presentation 186
14.12. Evaluation of Hematuria in ChildrenTests
for Selected Children 186
14.13. Classical Features of Henoch-Schnlein Purpura (HSP)
(Anaphylactoid Purpura) 187
14.14. Classical Features of Nephrotic Syndrome 187
14.15. Poor Prognostic Features of Hemolytic Uremic Syndrome 187
14.16. Facts about Renal Tubular Acidosis (RTA) 187
14.17. Type II RTA (Proximal RTA) 188
14.18. Type IV RTA 188
14.19. Type I RTA (Distal RTA) 189
14.20. Acute Renal Failure 189
14.21. Causes of Chronic Interstitial Nephritis 190
14.22. Risk Factors Associated with the Development of UTI 190
14.23. Effect of Constipation on Urinary System 190
14.24. Differential Diagnosis of Enuresis 191
14.25. VUR Grading 191
14.26. Causes of Hematuria 192
14.27. Investigations for Children with Renal Calculi 192
14.28. Classification of Glomerular Disorders 193
14.29. Causes of Proteinuria 193
14.30. Features of Nephrotic Syndrome 194

Contents
14.31.

14.32.
14.33.
14.34.
14.35.
14.36.
14.37.

xv

Indications for Renal Biopsy in Children with

Nephrotic Syndrome 194
Causes of Infantile Nephrotic Syndrome 195
Causes of Hypertension 195
Causes of Renal Hypertension 196
Biochemical Urine Indices in Renal Failure 197
Guidelines on the Indications for Dialysis 197
Stages of Chronic Renal Failure (CRF) 197

Chapter 15: Neurology

198
15.1. MRI of the Head 198
15.2. Cytogenetic Chromosome Testing for Mental Retardation 198
15.3. Delayed Language Development 198
15.4. Diagnostic Criteria for Migraine Headaches 199
15.5. Febrile Infection-related Epilepsy Syndrome (FIRES) 199
15.6. EEG Series 199
15.7. Screening Scheme for Developmental Delay: Upper Range 204
15.8. Head Growth 204
15.9. Permanent Causes of Anosmia (Loss of Smell) 204
15.10. Horner Syndrome 205
15.11. Causes of True or Apparent VIth Nerve Weakness in Children 205
15.12. Most Common Clinical Features of Progressive Infantile
Hydrocephalus 205
15.13. Clinical Features of Decompensated Hydrocephalus
(Children with Shunts) 206
15.14. Causes of Acquired Hydrocephalus 206
15.15. Dandy-Walker Malformation 207
15.16. Classification of Spina Bifida 208
15.17. Neurofibromatosis 1 (NF1) 208
15.18. Neurofibromatosis 2 (NF2) 209
15.19. Diagnostic Criteria for Tuberous Sclerosis Complex (TSC) 209
15.20. Principal Purposes for the Usage of EEG 210
15.21. Generalized, Self-limited Seizures 210
15.22. Focal, Self-limited Seizures 212
15.23. Indications for Neuroimaging in Children with Headache 214
15.24. Causes of Ataxia in Children 215
15.25. Transient Movement Disorders in Childhood 215
Chapter 16: Oncology
16.1. Common Chemotherapeutic Agents; Mechanism of Action
and Toxicity 217
16.2. Some Conditions Predispose to AML 218
16.3. Differences between Osteosarcoma and Ewing Sarcoma 218
16.4. The Most Common Signs and Symptoms of Cancer in
Children 218
16.5. Uncommon Signs and Symptoms of Cancer in Children 219
16.6. Oncologic Emergencies 219
16.7. Potential Long-term Sequelae of Childhood Cancer 220
16.8. Categorical Etiological Factors for CNS Tumors 220

217

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16.9.

16.10.
16.11.

16.12.

The WHO Classification Hodgkins Lymphoma or Hodgkins

Disease (HD) 220
Factors Predisposing to Childhood Leukemia 221
French-American-British (FAB) Classification of Acute
Myelogenous Leukemia 221
Location of Childhood Brain Tumors within the Central 222
Nervous System

Chapter 17: Ophthalmology

223
17.1. Useful Screening Questions for Older Children with
Perceptual Visual Difficulties Related to Central
Nervous System (CNS) Disease 223
17.2. Refractive Errors 223
17.3. Causes of Cerebral Visual Impairment 224
17.4. Conditions that may Present with (Apparent) Concomitant
Strabismus 224
17.5. Causes of True or Apparent VIth Nerve Weakness in Children 225
17.6. Mnemonic DWARF for Evaluation of Nystagmus 225
17.7. Causes of Sensory Congenital Nystagmus 225
17.8. Causes of Acquired Nystagmus in Children 226
17.9. Ocular Defects that may Cause Bilateral Congenital Blindness 226
17.10. The Blind Infant with Apparently Normal Eyes 227
17.11. Causes of Visual Loss in Children Evident on Ophthalmic
Examination 228
17.12. Congenital Ptosis 228
17.13. Causes of Congenital Cataracts 229
17.14. Abnormalities of the Optic Disk and Retina 230
17.15. Corneal Clouding 233
17.16. Differential Diagnosis of Retinal Hemorrhages in an Infant
with Suspected Shaking Injury (Not Exhaustive) 233
17.17. Ophthalmological Photos 234
17.18. Stages of Papilledema (Frisen Scale) 237
Chapter 18: Orthopedic
240
18.1. Differential Diagnosis of Joint Pain in Children 240
18.2. Hypermobility, Criteria Most Frequently Used to Define 241
18.3. Inherited Syndromes with Significant Hypermobility 241
18.4. Inherited Skeletal Dysplasias 242
18.5. Differential Diagnosis of Inflammatory Arthritis in Childhood 242
18.6. The Differential Diagnosis of Joint Pain in Children 243
18.7. Comparison of Synovial Fluid Analysis in Children with
Infective and Inflammatory Arthritis 244
18.8. Psoriatic Arthritis 244
18.9. Criteria for the Diagnosis of Rheumatic Fever 245
18.10. Roles of Radiological Imaging in Juvenile Idiopathic
Arthritis (JIA) 245
18.11. Kawasaki Disease 247

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Chapter 19: Otolaryngology

19.1. Facts about ENT 251
19.2. Causes of Sensorineural Deafness 252
19.3. Symptoms of Sensorineural Deafness 253
19.4. Common Causes of Stridor in Infants and Children 253
19.5. Normal CT Scan for the Paranasal Sinuses 255
19.6. Lateral Soft Tissue X-ray of a 4-year-old Boy 256
19.7. Adenoidectomy 257
19.8. Tonsillectomy 257
19.9. Causes of Hoarseness in Children 257
19.10. Complications of Tonsillitis 258
19.11. The Most Common Causes of Epistaxis in Children 258
19.12. Serous Otitis Media (Secretory Otitis Media) 259
19.13. Predisposing Factors for Acute Suppurative Otitis Media 259

251

18.12. Juvenile Dermatomyositis 248

18.13. Systemic Lupus Erythematosus 249

Chapter 20: Respiratory Disorders

260
20.1. The AAP Guidelines for RSV Immunoprophylaxis for
High-risk Infants and Children 260
20.2. Signs of Respiratory Distress in an Infant Older than
2 Months of Age 260
20.3. Tachypnea Thresholds based on AgeA Comparison 260
20.4. Recommendations of Chest X-ray for Chest Infection 261
20.5. Side Effects of Systemic Corticosteroids 261
20.6. Problems that may be Caused by the Usage of Inhaled Steroids 261
20.7. Risk Factors for Poor Prognosis in Drowning and Submersion
Events 261
20.8. Reasons to Consider Sweat Test 261
20.9. Hemoptysis in Children 262
20.10. Sarcoidosis 262
20.11. Conditions Predisposing to Aspiration Lung Injury in Children 264
20.12. Finger Clubbing 265
20.13. Spirogram Showing Lung Volumes and Capacities 266
20.14. Pulmonary Function Testing 266
20.15. The Most Common Causes of Epistaxis in Children 267
20.16. Condition that can Mimic the Common Cold 267
20.17. Exercise-induced Bronchospasm 268
20.18. Lung Function Abnormalities in Asthma 268
20.19. Lung Function Patterns (For Spirometry) 269
20.20. Congenital Central Hypoventilation Syndrome (CCHS) 269
20.21. Factors Suggesting Need for Hospitalization of Children
with Pneumonia 269
20.22. Differentiation of Pleural Fluid 270
20.23. Low Glucose or pH in Pleural Fluid 270
20.24. Causes of Spontaneous Pneumothorax 270
20.25. Cystic Fibrosis 271

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Chapter 21: Rheumatology

21.1. Criteria for Diagnosis of Systemic Lupus Erythematosus
(SLE) 274
21.2. Common Presentation of Neonatal Lupus Erythematosus 275
21.3. Diagnosis of Juvenile Dermatomyositis 275
21.4. Kawasaki Disease 276
21.5. Systemic Juvenile Idiopathic Arthritis 276
21.6. Characteristics Differentiation of the Spondyloarthritides 277
21.7. Viruses Associated with Arthritis 277
21.8. Morbidity in Childhood Lupus 278
21.9. Definition of Arthritis 279
21.10. Arthralgias without Physical Findings for Arthritis 279
21.11. Arthritis as a Presenting Manifestation of Multisystem
Rheumatic Diseases of Childhood 279
21.12. Symptoms Characteristic of Inflammatory Back Pain 279
21.13. Reactive Arthritis 279
21.14. Drug-induced Lupus 280
21.15. The Screening Musculoskeletal Examination in a Child 281
21.16. Causes of Migratory Arthritis 281
21.17. Causes of Polyarthritis 281
21.18. Henoch-Schnlein Purpura (HSP) 282

274

Chapter 22: Pediatric Mnemonics

22.1. APGAR Score Components 284
22.2. Autistic Disorder: Features 284
22.3. Breastfeeding: Contraindicated Drugs 284
22.4. Branches of Facial Nerve 285
22.5. Cyanotic Congenital Heart Diseases 285
22.6. ECG: T Wave Inversion Causes 285
22.7. Innocent Murmurs 285
22.8. Meckels Diverticulum-Rule of 2s 285
22.9. Murmurs: Questions to Ask 286
22.10. Murmurs: Innocent Murmur Features (8 S's) 286
22.11. Paramyxoviruses Family 286
22.12. Pheochromocytoma-rule of 10%s 286
22.13. Potter Syndrome 287
22.14. Protein Content of Milk 287
22.15. Psoriasis: Pathophysiology 287
22.16. Radial Nerve Innervates the BEST!!!! 287
22.17. Rash Appearance in a Febrile Patient 288
22.18. Risk Factor for Neonatal Jaundice 288
22.19. Raynaud's Phenomenon: Causes 288
22.20. STURGE Weber 288
22.21. White Patch of Skin: Differential 289
22.22. Williams Syndrome 289
22.23. DiGeorge Syndrome 289
22.24. Short Stature 289

284

Contents
22.25.
22.26.
22.27.
22.28.
22.29.
22.30.

xix

Breastfeeding: Contraindicated Drugs BREAST 290

Congenital Adrenal Hyperplasia (CAH) 290
Causes of Elevated Anion Gap Metabolic Acidosis 290
Causes of Normal Anion Gap Metabolic Acidosis 291
Causes of Respiratory Alkalosis 291
Measles: Complications MEASLES COMP 291

Suggested Reading
Index

293
295

CHAPTER

Accidents and Emergency

1.1. Estimate the Bruises Age by Color
Time

Color

Variations in color

<1 day

Red

Red to reddishblue

Day 1 4

Blue

Dark blue to purple

Day 57

Green

Green to yellow-green

Day 710

Yellow

Yellow to brown

Week 13

Normal

1.2. Causes of Miosis Include {(CO) 2P3S}

1. Cholinergics and clonidine
2. Opiates and organophosphates
3. Phencyclidine, phenothiazine and pilocarpine
4. Sedatives (barbiturates).

Fig. 1.1: Miosis vs. normal pupil

1.3. Causes of Mydriasis Include (AAAS)

1. Anticholinergics (atropine)
2. Antihistamines
3. Antidepressants (cyclic)
4. Sympathomimetics (amphetamine, cocaine and LSD).

Pediatric Spots

Fig. 1.2: Mydriasis vs. normal pupil

1.4. Causes of Diaphoretic Skin (SOAP)

1. Sympathomimetics
2. Organophosphates
3. Aspirin (salicylates)
4. PCP (phencyclidine).

1.5. Causes of Red Skin

1. Carbon monoxide
2. Boric acid.

1.6. Causes of Blue Skin

1. Cyanosis
2. Methemoglobinemia.

1.7. Activated Charcoal is Ineffective or Contraindicated in the

Following: (CHEMICAL CamP)

Caustics
Hydrocarbons
Electrolytes (common ones)
Metals
Iron
Cyanide
Alcohols
Lithium
Camphor
Phosphorus.

1.8. The Symptoms of Acetaminophen Overdose

Occur in Four Stages
N.B: 1. With overdoses, glutathione stores are overwhelmed and toxic metabolites accumulate.

2. An acute toxic dose in a child <12 years of age is about 150 mg/kg
and in adolescents and adult it is ~ 15 gm.

Accidents and Emergency

Stage

Time

Symptoms

024 hours

If any signs, nausea, vomiting, normal liver function

tests (LFTs)

2448 hours

Asymptomatic; may be RUQ pain; LFTs may begin

to increase

4896 hours

Peak of symptoms; AST20,000, prolonged PT,

death from hepatic failure or coagulopathy

414 days

Recovery or death; symptoms resolve in survivors

1.9. Symptoms of Anticholinergics Overdose

1.9.1. Anticholinergic agents include
1. Some antihistamines (diphenhydramine)
2. Antidepressants (amitriptyline and imipramine)
3. Antispasmodics
4. Antiparkinson agents
5. Atropine
6. Toxic plants (mushrooms, jimson weed and deadly nightshade).

1. 9.2. The symptoms are key

Dry as a bone: Sweating and urine output

Red as a beet: Flushing
Blind as a bat: Mydriasis
Mad as a hatter: Agitation and seizure
Hot as a hare : Hyperthermia.

1.10. The Symptoms of Iron Overdose

1.10.1. There are 5 phases of iron toxicity
1. GI stage (30 minutes to 6 hours)
Nausea, vomiting, diarrhea and abdominal pain
Hematemesis and bloody diarrhea in severe cases
Symptoms are due to the direct damage to the GI and intestinal mucosa.
2. Stability (624 hours)
3. Systemic toxicity (within 48 hours)
Hypovolemic shock
Cardiovascular collapse
Severe metabolic acidosis (positive anion gap).

Pediatric Spots

4. Hepatotoxicity (23 days postingestion)

Hepatic failure
Coagulation disruption worsen GI bleeding.
5. GI/pyloric scarring (25 weeks postingestion).

1.10.2. An elemental iron ingestion of

20 mg/kg : Mild
40 mg/kg : Moderate
>60 mg/kg : Severe.

1.11. Opiate Overdose

1.11.1. Common opiates include: ( M3PHC) n

Morphine
Propoxyphene
Methadone
Heroin
Mepridine
Codeine.

1.11.2. The classic triad of

1. Coma
2. Respiratory depression
3. Pinpoint pupils (miosis).

1.11.3. Other expected findings of opiate overdose

1. Analgesia
2. Altered mood
3. GI issues
4. Decreased GI motility
5. Nausea and vomiting
6. Abdominal pain (increased colonic and biliary tone)
7. Increased anal sphincter tone.

1.12. Salicylates Poisoning

1.12.1. Three systems are affected
1. GI: (nausea and vomiting)
2. Respiratory:(hyperpnea leading to respiratory alkalosis)
3. CNS: (if severe) (agitation, confusion and coma).

Accidents and Emergency

1.12.2. Salicylate level

> 30 mg/dL is potentially toxic
> 40 mg/dL is usually symptomatic
> 100 mg/dL signifies serious toxicity.

1.13. Theophylline Overdose

Leads to the following electrolyte abnormalities which are common:

Glucose and calcium
Potassium and phosphate.
Metabolic acidosis.

1.14. Tricyclic Antidepressant Ingestion

They inhibit cardiac fast sodium channels
Symptoms occur within 30 minutes to 6 hours
Ingestion of 1020 mg/kg is moderate to serious.

1.14.1. CNS effects are more prominent in children and include

1. Drowsiness
2. Lethargy
3. Seizures
4. Coma
5. Cardiac effects are:
Tachycardia
Hypertension or hypotension
Widened QRS
Prolonged QT.

1.14.2. Be aware of CCCA in tricyclic antidepressants

Coma
Convulsions
Cardiac arrhythmias
Acidosis.

1.15. Caustic Substance Ingestion

These fall into either alkaline or acidic agents.

1.15.1. Alkaline agents and characteristic

Bleach, ammonia, cleaners for ovens and drains, automatic dishes washer
detergent, hair relaxers and lye
Tasteless

Pediatric Spots

Cause severe, deep and liquefaction necrosis

May lead to scar tissue with stricture.

1.15.2. Acidic agents and characteristics

Toilet bowl cleaner, grout cleaner, rust remover, automotive battery liquids
and metal cleaners
Bitter taste.
Coagulation necrosis (superficial).
May lead to thick eschar formation, severe gastritis, metabolic acidosis, or
acute renal failure.
For caustic substance ingestion do not:
Neutralize
Induce emesis
Do gastric lavage
Give activated charcoal.

1.16. Ethanol Ingestion

1.16.1. Signs and symptoms of ethanol ingestion include
1. CNS disturbances:
Depression (slurred speech, ataxia and stupor to coma)
Seizure.
2. Respiratory depression
3. GI disturbance:
Nausea
Vomiting.
4. Hypothermia
5. Hypoglycemia.

1.16.2. A high osmolal gap should make one suspicious for

ingestion of
1. Ethanol
2. Methanol
3. Ethylene glycol
4. Isopropyl alcohol.

1.17. Methanol Ingestion

1.17.1. Symptoms
Initial nonspecific complaints:
Malaise
Headache

Accidents and Emergency

Abdominal discomfort
Nausea
Vomiting.
24 hours later, the child will develop:
Visual disturbances with blurry vision and photophobia
Optic nerve damage leading to blindness
CNS depression
Severe metabolic acidosis (high anion gap) .

1.17.2. Look for triad of

1. Visual complaints
2. Abdominal pain
3. Metabolic acidosis (without lactic acidosis or ketonuria).

1.18. Ethylene Glycol Ingestion

1.18.1. There are 3 stages of intoxication
Stage 1: (112 hours)
Appear drunk with nausea and vomiting
Drowsiness
Slurred speech
Lethargy.
Stage 2: (1236 hours)
Respiratory problemsTachypnea
Cyanosis
Pulmonary edema
ARDS
Death can occur.
Stage 3: (23 days)
Cardiac failure
Seizures
Cerebral edema
Renal failure.

1.18.2. Like methanol, ethylene glycol ingestion leads to

Metabolic acidosis (without lactic acidosis or ketonuria)
High osmolal gap.

Pediatric Spots

1.19. Organophosphate Ingestion

1.19.1. Inhibition of cholinesterase leads to the cholinergic
toxidrome (DUMBELS)

(N.B. there is increased secretions)

Diarrhea
Urination
Miosis (pinpoint)
Bronchorrhea/bronchospasm
Emesis
Lacrimation
Salivation.

1.20. Hydrocarbon Ingestion

1.20.1. The clinical findings include

Coughing
Chocking
Gagging
Wheezing
Severe respiratory distress
Mild CNS depression
Fever.

1.21. Burn
1.21.1. Classification of burn
First-degree (superficial)
Red, dry, minor swelling and pain
They generally resolve in 57 days.
Second-degree (partial thickness)
Red, wet, very painful, often with blisters or blebs
The tissue underneath is still well-perfused
It may take 25 weeks for these to heal.
Third-degree (full thickness)
Dry, leathery, waxy and have no pain associated with them.
They require grafting to large areas or healing from edges in smaller
areas.

Accidents and Emergency

1.21.2. Measurement of burn areas follows the rule of nines (>14

years old)
Head and neck

9%

Each upper limb

9%

Thorax and abdomenFront

18%

Thorax and abdomenBack

18%

Perineum

1%

Each lower limb

18%

1.21.3. Rule of Palm (<10 years of age)

Fig. 1.3: Percentage of burn areas in a child vs. adult

Childs palm not including fingers = 0.51% body surface area

Useful in smaller burns.

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1.22. Head Injury

1.22.1. Physical findings indicating more serious injury include
1. Scalp swelling or step-off
2. Basilar skull fracture (often associated with CSF leak and cranial nerve
damage):
Raccoon eyes
Battle sign
Hemotympanum.
3. Temporal bone fracture
Bleeding from the external auditory canal
CSF otorrhea
Hearing loss
Facial paralysis.
4. Papillary changes, papillededma doesnt develop immediately
5. Infants:
Retinal hemorrhages (abuse)
Other bruises.

1.22.2. When to definitely order a CT scan (high-risk) in head injury

Depressed mental status

Focal neurological signs
Signs of depressed or basilar skill fracture
Seizure
Irritability
Acute skull feature
Bulging fontanel
Vomiting more than 5 times or for > 6 hours

Loss of consciousness > 1 minute.

1.22.3. Intermediate-risk patients who have the followings

Loss of consciousness < 1 minute.

Vomiting 34 times.
Lethargy or irritability now resolved.
Behavioral changes.
Mechanism: High force, fall onto a hard surface, or unknown, unwitnessed
and vague.
Hematoma, and specially large or nonfrontal.
Nonacute skull fracture.

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11

1.22.4. When to discharge with instruction (low-risk)

Mechanism of injury is low energy (e.g. fall of <3ft)
No signs or symptoms
No loss of consciousness.

1.22.5. Concussion grades

Grade

Confusion

Amnesia

Loss of consciousness

Yes

No

No

II

Yes

Yes

No

III

Yes

Yes

Yes

1.22.6. Concussion and time before return to contact sports

Minimum time to return to play

Time asymptomatic

20 minutes

At the initial exam

II

1 week

1 week

III

1 month

1week

1.23. Grade of Ankle Sprains

Grade I
(mild)

Grade II
(moderate)

Grade III
(severe)

Swelling

Mild

Moderate

Severe

Tenderness

Mild

Moderate

Severe

Loss of function Minimal

Treatment

Difficult to ambulate Unable to bear weight

710 days rest 24 weeks rest

510 weeks rest

Bibliography
1. http://publications.nice.org.uk/head-injury-cg56/guidance.
2. McNeil consumer and specialty pharmaceuticals. Guidelines for the management
of Acetaminophen overdose.7050 Camp Hill Road. Fort Washington, PA 19034.
3. Schwartz AJ, Ricci LR. How Accurately Can Bruises Be Aged in Abused Children?
http://pediatrics.aappublications.org/content/97/2/254.

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CHAPTER

Cardiology
2.1. ECG Findings
2.1.1. Nomenclature of electrocardiogram (ECG)
waves and intervals

Fig. 2.1: Nomenclature of ECG waves and intervals

2.1.2. Important intervals

2.1.2.1. PR interval
PR interval
Indicates the time between atrial and ventricular depolarization.
It is a reflection of mostly AV node conduction.
Normal duration is 35 small squares (120200 ms), because a small
square is defined as 40 ms).
A PR interval longer than 200 ms (1 big square) in teens and adults, is the
definition of 1 AV block.

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13

Intervals shorter than 120 ms (3 small squares) in teens and adults may
indicate:
1. Wolff-Parkinson-White (WPW) (short interval with delta wave)
2. Junctional rhythm (with retrograde P wave)
3. Left atrial overload (widened P wave).

2.1.2.2. QRS duration

QRS duration
It is usually < 100 ms ( a big square).
QRS >120 ms may be caused by
Bundle branch block (BBB) (right or left)
Ectopic ventricular beat (PVC)
Ventricular rhythm
Ventricular pacemaker
Drugs that prolong conduction (e.g. tricyclics)
WPW
Electrolyte problems (hyperkalemia).

2.1.2.3. QT interval
QT interval
Varies with heart rate.
The corrected QT interval (QTc) for heart rate is normally 340440 ms.
With prolonged QTc there is a tendency to develop:
Recurrent syncope
Sudden death
Torsades de pointes.
Causes of prolonged QTc:
Genetic or congenital prolonged QT syndrome (in a child without
medications).
Long QT + sensorineural deafness = Jervell and Lange-Nielsen syndrome.
Other etiologies for prolonged QT interval include:
Tricyclic overdose (specially in adolescent)
Hypocalcemia
Hypomagnesemia
Hypokalemia
Type Ia and III antiarrhythmics
(Ia = quinidine, procainamide; III = amiodarone, sotalol)
Starvation with electrolyte abnormalities
CNS insult.

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Pediatric Spots

Short QTc may be caused by:

Hypercalcemia
Digitalis
Congenital.

2.1.3. Waveforms and segments

2.1.3.1. P wave
P wave:
Originating in sinus node (SA)
Result from the depolarization of the atrium
Normal P wave
2 mm in height
<120 ms (3 small squares) in duration
The axis is 0+90
Most information from P wave can be derived from lead II, aVR and V1
The normal P wave is:
Positive in lead I, II and aVF
Positive or biphasic in V1
Negative in aVR.
A retrograde P wave:
Originating outside the SA node
It is negative in II (and II and aVF)
It is positive in aVR
Indicating an ectopic focus which is originating in:
1. Inferior part of the atrium
2. The AV junction (often results in short PR interval).
Right atrial preponderance:
(enlargement, hypertrophy and overload)
The P wave width stays normal (<120 ms)
Peaking of P wave in lead II and V1.
Left atrial overload:
Widened, notched M shaped P wave in lead II

Decreased P waves amplitude is seen in severe hyperkalemia.

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2.1.3.2. T wave
T wave
Typically positive in V1 at birth age 7 days then inverted.
Should remain inverted in V1 until ages 910 years.
They may be either inverted or upright in V1 during teen years.
If T wave remain positive after 7 days and upto 10 years of age in V1, this
may indicate right ventricular hypertrophy.
Peaked T waves can occur with:
Hyperkalemia
Intracerebral hemorrhage.

2.1.3.3. U wave
U wave
Usually small occurs just after T wave
It is mainly something to look at in older adolescents or adults
Best seen in V2V3
Usually a < 1 mm, rounded deflection in the same direction of T wave.
Prominent U wave
An increased tendency for torsades de pointes
It is seen with:
Hypokalemia
Bradycardia
Digitalis
Amiodarone.

2.1.3.4. ST segment

There are 3 main causes of ST segment elevation. These are:

1. Acute MI
2. Prinzmetals angina
3. Pericarditis.
The first 2 are almost never seen in children.
Pericarditis is the most common cause of cardiac chest pain in pediatrics
and it affects the whole heart, so ST changes should be seen in most leads.

ST segment elevation may also seen in:

Early repolarization variant
Intracerebral hemorrhage
Hypertrophic cardiomyopathy
LVH

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Pediatric Spots
LBBB
Cocaine abuse
Myocarditis
Hypothermia.

ST segment depression occurs in pediatrics with:

Subendocardial ischemia (specially if down-sloping or flat).
LVH with strain (ST depression with flipped T wave in left precordial
leads).
RVH (cause RAD, ST segment depression preceding a flipped T wave in
V1).
Digitalis effect.
Hypokalemia.

2.1.3.5. QRS complex

QRS complex: 1
Depolarization of the ventricles occurs simultaneously after the
depolarization of the interventricular septum.
The mean vector of depolarization of the interventricular septum points
from patients left to right, across septum.
QRS complex: 2
A small, initial deflection, which is positive in V1 (R wave) and negative in
V6 (Q wave).
A septal Q wave in V6 generally means normal initial depolarization.
The mean QRS vector is strongly to the patients left so a large negative
deflection in V1 and positive deflection in V6.
QRS complex: 3
On the frontal plane, the mean vector is 30 to +100
The normal duration of the QRS is < 120 ms.

2.1.4. Features of the normal and abnormal rhythms

2.1.4.1. Normal sinus rhythm

Fig. 2.2: Normal sinus rhythm

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RhythmRegular.
Rate(60100 bpm).
QRS durationNormal.
P waveVisible before each QRS complex.
PR intervalNormal (<5 small squares. Anything above and this would
be 1st degree block).
Indicates that the electrical signal is generated by the sinus node and
traveling in a normal fashion in the heart.

2.1.4.2. Sinus bradycardia

Fig. 2.3: Sinus bradycardia

RhythmRegular
RateLess than 60 beats per minute
QRS durationNormal
P waveVisible before each QRS complex
PR intervalNormal
Usually benign and often caused by patients on -blockers.

2.1.4.3. Sinus tachycardia

Fig. 2.4: Sinus tachycardia

RhythmRegular
RateMore than 100 beats per minute
QRS durationNormal
P waveVisible before each QRS complex
PR intervalNormal
The impulse generating the heartbeats are normal, but they are occurring
at a faster pace than normal. Seen during exercise.

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Pediatric Spots

2.1.4.4. Supraventricular tachycardia (SVT) abnormal

Fig. 2.5: Abnormal supraventricular tachycardia

RhythmRegular.
Rate140220 beats per minute.
QRS durationUsually normal.
P waveOften buried in preceding T wave.
PR intervalDepends on site of supraventricular pacemaker.
Impulses stimulating the heart are not being generated by the sinus node,
but instead are coming from a collection of tissue around and involving
the atrioventricular (AV) node.

2.1.4.5. Atrial fibrillation

Fig. 2.6: Atrial fibrillation

RhythmIrregularly irregular.
RateUsually 100160 beats per minute but slower if on medication.
QRS durationUsually normal.
P waveNot distinguishable as the atria are firing off all over.
PR intervalNot measurable.
The atria fire electrical impulses in an irregular fashion causing irregular
heart rhythm.

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2.1.4.6. Atrial flutter

Fig. 2.7: Atrial flutter

RhythmRegular.
RateAround 110 beats per minute.
QRS durationUsually normal.
P waveReplaced with multiple F (flutter) waves, usually at a ratio of 2:1
(2F-1QRS) but sometimes 3:1.
P wave rate300 beats per minute.
PR intervalNot measurable.
As with SVT the abnormal tissue generating the rapid heart rate is also in
the atria, however, the atrioventricular node is not involved in this case.

2.1.4.7. First degree AV block

Fig. 2.8: First degree AV block

RhythmRegular
RateNormal
QRS durationNormal
P waveRatio 1:1
P wave rateNormal
PR intervalProlonged (>5 small squares).

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Pediatric Spots

2.1.4.8. Second degree AV block type I (Wenckebach)

Fig. 2.9: Second degree AV block type I (Wenckebach)

RhythmRegularly irregular.
RateNormal or slow.
QRS durationNormal.
P waveRatio 1:1 for 2, 3 or 4 cycles then 1:0.
P wave rateNormal but faster than QRS rate.
PR intervalProgressive lengthening of PR interval until a QRS complex
is dropped.

2.1.4.9. Second degree AV block type II

Fig. 2.10: Second degree AV block type II

RhythmRegular
RateNormal or slow
QRS durationProlonged
P waveRatio 2:1, 3:1
P wave rateNormal but faster than QRS rate
PR intervalNormal or prolonged but constant.

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2.1.4.10. Third degree heart block

Fig. 2.11: Third degree heart block

RhythmRegular.
RateSlow.
QRS durationProlonged.
P waveUnrelated.
P wave rateNormal but faster than QRS rate.
PR intervalVariation.
Complete AV blockNo atrial impulses pass through the atrioventricular node
and the ventricles generate their own rhythm.

2.1.4.11. Bundle branch block

Fig. 2.12: Bundle branch block

RhythmRegular
RateNormal
QRS durationProlonged
P waveRatio 1:1
P wave rateNormal and same as QRS rate
PR intervalNormal.

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Pediatric Spots

2.1.4.12. Premature ventricular complexes

Fig. 2.13: Premature ventricular complexes

RhythmRegular.
RateNormal.
QRS durationNormal.
P waveRatio 1:1.
P wave rateNormal and same as QRS rate.
PR intervalNormal.
Also you'll see 2 odd waveforms, these are the ventricles depolarizing
prematurely in response to a signal within the ventricles. (Above
Unifocal PVC's as they look alike if they differed in appearance they would
be called multifocal PVC's, as below).

Fig. 2.14: Multifocal PVC's

2.1.4.13. Junctional rhythms

Fig. 2.15: Junctional rhythms

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RhythmRegular
Rate4060 beats per minute
QRS durationNormal
P waveRatio 1:1 if visible. Inverted in lead II
P wave rateSame as QRS rate
PR intervalVariable.

2.1.4.13.1. Accelerated junctional rhythm

Fig. 2.16: Accelerated junctional rhythm

2.1.4.14. Ventricular tachycardia (VT) abnormal

Fig. 2.17: Ventricular tachycardia

RhythmRegular.
Rate180-190 beats per minute.
QRS durationProlonged.
P waveNot seen.
Results from abnormal tissues in the ventricles generating.
A rapid and irregular heart rhythm. Poor cardiac output is usually
associated with this rhythm thus causing cardiac arrest. Shock this rhythm
if the patient is unconscious and without a pulse.

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Pediatric Spots

2.1.4.15. Ventricular tachycardia (VT) abnormal

Fig. 2.18: Abnormal ventricular tachycardia

RhythmIrregular
Rate300+, disorganized
QRS durationNot recognizable
P waveNot seen
This patient needs to be defibrillated!! QUICKLY.

2.1.4.16. AsystoleAbnormal

Fig. 2.19: Asystole

RhythmFlat
Rate0 beats per minute
QRS durationNone
P waveNone
Carry out CPR!!

2.1.4.17. Myocardial infarct (MI)

Fig. 2.20: Myocardial infarction

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RhythmRegular
Rate80 beats per minute
QRS durationNormal
P waveNormal
ST element does not go isoelectric which indicates infarction.

2.1.5 Ventricular hypertrophy

2.1.5.1. Left ventricular hypertrophy (LVH)
1. LVH is age-dependent
A negative T wave in lead V6 after 7 days of life, think of LVH.
2. In infancy: The mean QRS being moved to the left and posteriorly
In frontal plane, the QRS axis may move to 060; <30 in an infant is
very uncommon and suggests LVH.
3. Without an axis shift, the diagnosis of LVH is based on voltage
criteria:
R waves less than 5th percentile or S waves more than 95th percentile
in V3R and V1
R waves more than 96th percentile in V5 and V6.
4. In older adolescents: LVH causes an exaggerated:
Negative deflection in V1
Positive deflection in V6.

Fig. 2.21: Left ventricular hypertrophy

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Pediatric Spots

2.1.5.2. Right ventricular hypertrophy (RVH)

1. The term infant: has physiological normal right ventricular
hypertrophy.
2. For pathological RVH, the mean QRS will move farther right and
anteriorly.
In frontal plane QRS axes >190 for infant <1 week of age or 135 for
infants > 1 month of age.
3. A pure R wave > 25 mm voltage, or a qR pattern in the right chest leads
This suggests pathologic RVH in the newborn.
4. An upright or even flat T wave in V4R and V1 in a child between 1 week
and 8 years of age is highly suggestive of RVH.
5. In an older adolescents, ECG criteria for RVH are:
Right axis deviation.
Increased R voltage in V1 or S in V6 and rsR in V1.
ST segment depression and a flipped T wave in V1.

Fig. 2.22: Right ventricular hypertrophy

http://e-surg.com

Cardiology

27

2.1. 6. Conduction disturbances

2.1.6.1. Atrioventricular (AV) blocks
1 AV block

Prolongs the PR interval more than normal for age and by

> 200 ms (1 big square) beyond 16 years.

Fig. 2.23: First AV block

2 AV block results in 2 main patterns

Mobitz I:
Wenckebach phenomenon involves progressive prolongation of the PR
interval until there is a drop in QRS (ventricular beat).
Rarely requires treatment.

Fig. 2.24: Mobitz I, Second degree AV block

Mobitz II:
Normal PR interval, but, periodically, there is a drop in QRS
2:1 AV block is 2 P waves for each QRS.
3:1 AV block is 3 P waves for each QRS.
Higher-grade heart block implies disease of the His-Purkinje conduction
system.
Often requires a pacemaker.

Fig. 2.25: Mobitz II, Second degree AV Block

http://e-surg.com

28

Pediatric Spots

3 AV block or complete heart block

No atrial depolarizations are conducted through the AV node.

If the QRS complex has a normal width (< 100 ms), there is a junctional
ectopic pacemaker.
Junctional escape rate is 4060 bpm, whereas ventricular escape rate
(which also would be a wider QRS) is 2040 bpm.

Fig. 2.26: Third degree AV block

2.1.6.2. Bundle branch block (BBB)

2.1.6.2. 1. LBBB

It is rare in children.
The QRS is prolonged, with a duration of 120180 ms (34.5 small squares).
An RR (notched or slurred) in the lateral leads (I, aVL and V6) and there is
a corresponding SS (also called QS ) in V1.
50% of patients have a normal axis, 50% have LAD (30 to 90).

Fig. 2.27: Left bundle branch block

http://e-surg.com

Cardiology

29

2.1.6.2. 2. RBBB

More common in children, particularly after open heart surgery

RR or RSR (rabbit ears) in V1 and a wide S wave in V6.

Fig. 2.28: Right bundle branch block

2.1.7. Areas of the ECG to be concentrated upon to study the

events, e.g. MI

Fig. 2.29: Areas of ECG to evaluate the type of MI

Position

Leads

Lateral

Look on lead I, V5, V6

Inferior

Look on lead II, III, aVF

Anterior/septal

Look on V1, V2, V3, V4

http://e-surg.com

30

Pediatric Spots

2.2. Normal or Innocent Murmurs

No

Murmur

Timing /Location /Quality

Usual age
at diagnosis

Stills murmur/
vibratory murmur

Systolic ejection murmur

36 years

LLSB or between LLSB and apex

Grades I III/VI
Vibratory, musical quality
Intensity decreases in upright position
2

Venous hum

Continuous murmur

36 years

Infraclavicular region (right >left)

Grades I III/VI
Louder with patient in upright position
Changes with compression of jugular
vein or turning head
3

Carotid bruit

Systolic ejection murmur

Any age

Neck, over carotid artery

Grades I III/VI
4

Adolescent
ejection
murmur

Systolic ejection murmur

814 years

LUSB
Grades I III/VI
Usually softer in upright position
Does not radiate to back

Peripheral
pulmonary
stenosis

Systolic ejection murmur

814 years

Axilla and back, LUSB/RUSB

Grades I II/VI
Harsh, short, high-frequency

N.B. LLSB: Left lower sternal border, LUSB: Left upper sternal border,
RUSB: Right upper sternal border

http://e-surg.com

Cardiology

31

2.3. Cardiac Catheterization; Normal Heart

Fig. 2.30: Cardiac catheterization; normal heart

AO: Aorta; LA: Left atrium; LV: Left ventricle; PA: Pulmonary artery;
RA: Right atrium; RV: Right ventricle (circled values are oxygen saturations)

2.4. Congenital Heart Diseases

2.4.1. Genetic diseases and their associated cardiac abnormalities
2.4.1.1. Single mutant gene syndrome
Noonan syndrome

Pulmonary stenosis
Hypertrophic cardiomyopathy

Apert syndrome

VSD
Coarctation of aorta

Holt-Oram syndrome

ASD
VSD

Alagille syndrome

Pulmonary stenosis

Ellis-van Crevald syndrome

Single atrium

2.4.1.2. Chromosomal abnormalities

Cri-du-chat syndrome

VSD

Turner syndrome (XO)

Bicuspid aortic valves

Coarctation of the aorta

Trisomy 21 (Down syndrome)

Endocardial cushion defect

Trisomy 13 (Patau syndrome)

VSD

Trisomy 18 (Edward syndrome)

VSD

http://e-surg.com

32

Pediatric Spots

2.4.2. Left-to-right shunts occurring in post-tricuspid valve

1. Aorta to pulmonary artery shunts:
PDA.
Hemitruncus arteriosus.
Coronary-pulmonary fistula.
Left coronary artery anomalously originating from pulmonary artery.
2. Aorta to right ventricle:
Sinus of Valsalva fistula
Coronary arteiovenous fistula.
3. Aorta to right atrium or vena cava:
Systemic arteriovenous fistula
Sinus of Valsalva fistula.
4. Left ventricle to right ventricle:
VSD
Endocardial cushion defect.
5. Left ventricle to right atrium:
Left ventricle to right atrium connection
Endocardial cushion defect.

Fig. 2.31: Patent ductus arteriosus (PDA)

2.4.2.1. Patent ductus arteriosus (PDA)

The ductus arteriosus normally closes functionally: within 1015 hours

after birth.
Complete anatomic closure may not occur for 3 weeks.
Premature infants (weighing <1.750 gm) have clinically apparent PDA
~ 40 70% of the time.

Cardiology

33

Clinically, there is a continuous rumbling or machinery-like murmur

and will usually increase in intensity in late systole.
The best to be heard is below the left clavicle.
There is a collapsing or bounding pulse.

2.4.2.2. Ventricular septal defect (VSD)

Fig. 2.32: Ventricular septal defect (VSD)

VSDs are the most common congenital heart defects and make upto
2530% of cases of congenital heart defects in term newborns.
At birth, a majority of VSDs occur in the muscular septum but these
usually close spontaneously 1 year of age.
After 1 year, the majority of VSDs detected occur in the membranous
septum.
Clinically, there is harsh or high-pitched murmur.
If the shunt is:
Small = only heard in early systole
Large = holosystolic.
The best to be heard is at the lower left sternal border (LLSB), with maximal
intensity near the subxiphoid area.
Most symptoms will occur in term infants at 48 weeks of age and will
consist of;
Volume overload
Heart failure.

34

Pediatric Spots

2.4.2.3. Atrial septal defect (ASD)

2.4.2.3.I. Ostium secundum defect

Fig. 2.33: Ostium secundum defect

Ostium secundum defects are the most common form of ASD and are
located in the midseptum.
Older children with ASDs are usually asymptomatic.
On physical examination:
S1 is normal
S2 is widely split without respiratory variation.
The ASD itself does not usually produce a very loud murmurThe
murmur is from increased flow across the right ventricular outflow tract
and pulmonic valve.
Chest X-ray can show:
The main pulmonary artery and right heart will be enlarged
Increased pulmonary blood flow.
ECG will show:
RAD
RVH
Typical rsR or rsR Rabbit ears in the right precordium
The S wave in the inferior leads and is usually notched.
Pulmonary vascular disease with pulmonary hypertension can occur
(~5%) but usually not until 2030 years of age.
Ostium secundum defects do not need endocarditis prophylaxis, nor
does ostium primum.

Cardiology

35

2.4.2.3.2. Ostium primum defect

Ostium primum defect is located in the lower portion of atrial septum.

In the region of the mitral and tricuspid valves rings.
Clinically, the left-right shunt results in right ventricular hypertrophy,
with increased pulmonary blood flow
So:
Right ventricular outflow murmur
tricuspid valve mid-diastolic murmur
Widely split S2.
ECG will show:
LAD
Right ventricular hypertrophy (RVH):
* rsR in the right precordium.
LAD distinguishes the ostium primum defect from the ostium secundum
defect.

2.4.2.3.3. Complete AV canal defect

(AV septal defect, endocardial cushion defect)

Fig. 2.34: Complete AV canal defect

This involves failure of the central heart to develop, resulting in a

large hole communication between the atria and ventricles, as well as
malformation of the tricuspid and mitral valves.
Clinically; a large left-to-right shunt and valve regurgitation Cardiac
volume overload and CHF.

36

Pediatric Spots

The infants most often present with heart failure by 2 months of age.
This is the most common heart defect in Down syndrome (trisomy 21).
Chest X-ray reveals:
Nonspecific, generalized cardiomegaly with increased pulmonary
blood flow.
ECG will usually show:
LAD
Prominent voltages with biventricular hypertrophy.
Absence of these is very unusual for an AV canal defect.
Electrocardiogram of a 7-month-old male with a complete atrioventricular

Fig. 2.35: ECG in complete AV canal defect

canal shows:
Left axis deviation
Biventricular hypertrophy are readily apparent
Peaked p-waves in lead II suggests right atrial enlargement.

2.4.2.4. Coarctation of the aorta

Fig. 2.36: Coarctation of the aorta

Cardiology

37

Fig. 2.37: Figure of coarctation of the aorta

Coarctation develops from a defect in the vessel media, causing posterior

infolding of the vessel.
1. Clinically in infancy severe coarctation looks a like severe aortic
stenosis, with septic shock appearance.
Murmurs are not common, but if the ductus is patent, a continuous
murmur along the left sternal border can be heard.
2. Older kids may present with hypertension or murmur.
3. Epistaxis, claudication-like symptoms in the lower extremities with
exercise and headaches can happen but are uncommon.
Stroke is rare <7years of age, but if it occurs, it is likely associated with a
rupture berry aneurysm.
Diagnosis is from pulses and blood pressureNot from murmurs.
Pulses in the upper extremities are strong with associated hypertension,
while the femoral pulses are absent or weak.

Chest X-ray shows:

The area of dilatation below the coarctation and the dilated aortic segment
just above the coarctation of aortic arch 3 sign if you look down the
left upper border of the aortic arch and descending aorta.
Rib notching is classic, but may not develop for 56 years occurs
At the lower margins of the ribs, at about the middle third
In >50% of affected older children.

38

Pediatric Spots

2.4.3. Right-to-left shunts

2.4.3.1. Tetralogy of Fallot (TOF)

Fig. 2.38: TOF vs. normal heart

The most common cyanotic heart lesion in children with congenital heart
disease who have survived untreated beyond infancy.
It makes upto 710% of congenital defects.
Four things make up the tetralogy (see picture above)
1. RV outflow tract obstruction (subpulmonary valve stenosis)
2. VSD (malalignment)
3. Overriding aorta (dextropositioning)
4. RVH.

Cardiology

39

The child with TOF is at risk for:

1. Brain abscess
2. Cerebral thrombosis with hemiplegia
3. Infective endocarditis
Clinically, squatting after exercise can occur
Systolic murmur best heard at the middle or left lower sternal border
Chest X-ray classically shows:
The boot-shaped heart or Coeur en sabot
2530% have a right aortic arch.
ECG will show:
RAD and RVH.

Fig. 2.39: X-ray of child with TOF

2.4.3.2. Transposition of great arteries (TGA)

Fig. 2.40: Transposition of great arteries vs. normal heart

40

Pediatric Spots
TGA is the most common cardiac cause of cyanosis in the newborn during
the first few days of life.
NB. TOF is the most common for all ages together.
It comprises 46% of congenital defects.
The only initial presenting signs/symptoms in an otherwise healthy
appearing baby may be severe cyanosis in an infant with TGA without a
VSD.

Clinically:
Single, loud second sound will be heard.
23/6, nonspecific, systolic ejection murmur at the middle left sternal
border.
If an associated VSD is present in an infant, CHF and modest
Cyanosis will develop by 34 weeks of age.
These infants usually have tachypnea and dyspnea.
Chest X-ray can be:
Normal or
Classic finding: Egg-shaped or oval-shaped heart with a narrow
mediastinum and small thymus. It is seen in only ~33% of affected
infants.
ECG may be helpful after ~5 days, with a persistently positive T wave in
the right precordium.

Fig. 2.41: X-ray in a child with transposition of great arteries

Bibliography
1. http://www.congenitalcardiologytoday.com/
2. http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_
treatments/conditions/pediatric_congenital_heart_disease.html.
3. http://www.mayoclinic.org

CHAPTER

Dentistry
3.1. The Times of Eruption of the Primary and Permanent Teeth
3.1.1. Primary dentition
Primary Dentition
Maxillary
Tooth

Range

Central incisor

4 months

7 months

Lateral incisor

5 months

8 months

Canine

9 months

1620 months

First molar

6 months

1216 months

Second molar

1012 months

2030 months

Mandibular
Tooth

Range

Central incisor

4 months

6 months

Lateral incisor

4 months

7 months

Canine

9 months

1620 months

First molar

6 months

1216 months

Second molar

1012 months

2030 months

3.1.2. Permanent dentition

Permanent Dentition
Maxillary
Tooth

Range

Central incisor

45 years

78 years

Lateral incisor

45 years

89 years

Canine

67 years

1112 years
Contd...

42

Pediatric Spots

Contd...
Tooth

Range

First premolar

56 years

1011 years

Second premolar

67 years

1012 years

First molar

23 years

67 years

Second molar

78 years

1213 years

Third molar

1216 years

1721 years

Mandibular
Tooth

Range

Central incisor

45 years

67 years

Lateral incisor

45 years

78 years

Canine

67 years

910 years

First premolar

56 years

1012 years

Second premolar

67 years

1112 years

First molar

23 years

67 years

Second molar

78 years

1113 years

Third molar

1216 years

1721 years

3.2. Angle Classification of Occlusion

Fig. 3.1: Angle classification of occlusion

The typical correspondence between the facial-jaw profile and molar

relationship is shown

Dentistry

43

3.3. Traumatic Oral Injury

Traumatic oral injuries may be categorized into three groups:
1. Injuries to teeth.
2. Injuries to soft tissue (contusions, abrasions, lacerations, punctures,
avulsions and burns).
3. Injuries to jaw (mandibular or maxillary fractures or both).

3.3.1. Injuries to teeth

Approximately 10% of children between 18 months and 18 years of age
will sustain significant tooth trauma.
The three age groups with greatest predilection are:
1. Toddlers (13 years), usually due to:

i. Falls

ii. Child abuse.
2. School-aged (710 years), usually from:

i. Bicycle

ii. Playground accidents.
3. Adolescents (1618 years), often the result of:

i. Fights

ii. Athletic injuries

iii. Automobile accidents.

3.3.1.1. Tooth fractures

I. Tooth fractures may involve:

1. Enamel

2. Dentin

3. Pulp.
II. They may occur in:

1. The crown

2. The root of a tooth.

Fig. 3.2: Areas of tooth fractures

44

Pediatric Spots

3.4. Discolored Teeth

1. Neonatal hyperbilirubinemia (blue to black discoloration of the primary
teeth).
2. Porphyria (red-brown discoloration).
3. Tetracyclines (brown-yellow discoloration and hypoplasia of the enamel).

3.5. Conditions Associated with Natal Teeth

1.
2.
3.
4.
5.
6.

Cleft palate
Pierre Robin syndrome
Ellis-van Creveld syndrome
Hallermann-Streiff syndrome
Pachyonychia congenita
Other anomalies.

3.6. Systemic Problems that Cause Aggressive Periodontitis

in Children
1. Neutropenia
2. Leukocyte adhesion or migration defects
3. Hypophosphatasia
4. Papillon-Lefvre syndrome
5. Leukemia
6. Histiocytosis X.

3.7. Differential Diagnosis of Oral Ulceration

Common
Condition

Comment

Aphthous (canker sore)

Painful and circumscribed lesions; recurrences

Traumatic

Accidents, chronic cheek biter, or after dental

local anesthesia

Hand, foot and mouth

disease

Painful; lesions on tongue, anterior oral cavity,

hands and feet

Herpangina

Painful; lesions confined to soft palate and

oropharynx

Herpetic gingivostomatitis

Vesicles on mucocutaneous borders; painful and

febrile

Recurrent herpes labialis

Vesicles on lips; painful

Chemical burns

Alkali, acid, aspirin; painful

Heat burns

Hot food and electrical

Dentistry

45

Uncommon
Condition

Comment

Neutrophil defects

Agranulocytosis, leukemia, cyclic neutropenia; painful

Systemic lupus erythematosus

Recurrent, may be painless

Behet's syndrome

Resembles aphthous lesions; associated with genital ulcers and uveitis

Necrotizing ulcerative gingivostomatitis Vincent stomatitis; painful

Syphilis

Chancre or gumma; painless

Oral Crohn disease

Aphthous-like; painful

Histoplasmosis

Lingual

3.8. Bilateral Enlargement of the Submaxillary Glands

Bilateral enlargement of the submaxillary glands can occur in:
1. AIDS
2. Cystic fibrosis
3. Epstein-Barr virus infection
4. Malnutrition.

3.9. Benign Salivary Gland Hypertrophy

Benign salivary gland hypertrophy has been associated with:
1. Endocrinopathies
2. Thyroid disease
3. Diabetes
4. Disorders of the pituitary-adrenal axis.

3.10. Xerostomia
Xerostomia (dry mouth) may be associated with:
1. Fever

5. Mikulicz disease (leukemia infiltrates)

2. Dehydration

6. Sjgren syndrome

3. Anticholinergic drugs

7. Tumoricidal doses of radiation when

the salivary glands are within the field

4. Chronic graft versus host disease

Bibliography
1. http://ejo.oxfordjournals.org/content/22/2/169.full.pdf
2. http://my.clevelandclinic.org/services/dental_care/hic_teeth_eruption_
timetable.aspx
3. http://www.rch.org.au/clinicalguide/guideline_index/Dental_Injuries/

CHAPTER

Dermatology
4.1. Skin Lesions
4.1.1. Primary skin lesions
Primary lesions are classified as:
1. Macules
2. Papules
3. Patches
4. Plaques
5. Nodules
6. Tumors
7. Vesicles
8. Bullae
9. Pustules
10. Wheals
11. Cysts.

4.1.1.1. Definition of primary skin lesions

1.
2.
3.
4.
5.
6.

7.
8.
9.
10.
11.

Macule represents an alteration in skin color but cannot be felt.

Patch when the macule is >1 cm, the term is used.
Papules are palpable solid lesions <1 cm.
Plaques are aggregations of papules.
Nodules are larger in diameter and deeper in the skin than papules
Tumors are solid raised mass having a diameter larger than 1 cm
with the dimension of depth, usually larger than nodules and vary
considerably in mobility and consistency.
Vesicles are raised, fluid-filled lesions <0.5 cm in diameter.
Bullae are larger vesicles.
Pustules contain purulent material.
Wheals are flat-topped, palpable lesions of variable size, duration, and
configuration that represent dermal collections of edema fluid.
Cysts are circumscribed, thick-walled lesions; they are covered by a
normal epidermis and contain fluid or semisolid material.

Dermatology

47

A. Macule
(e.g. freckles and moles)

B. Patch
(e.g. vitiligo and caf au lait spots)

C. Papule
(e.g. nevus and wart)

D. Plaque
(e.g. psoriasis and seborrheic keratosis)

E. Nodule
(e.g. erythema nodosum)

F. Tumor
(e.g. neoplasms)

48

Pediatric Spots

G. Wheal
(e.g. hives and insect bite)

H. Wart
e.g. vitiligo, caf au lait spots

I. Vesicle
(e.g. blister and herpes simplex)

J. Cyst
e.g. vitiligo, caf au lait spots

K. Bulla
(e.g. blister and pemphigus vulgaris)
Figs 4.1A to K: Primary skin lesions

Dermatology

49

4.1.2. Secondary skin lesions

Secondary lesions include
1. Scales
2. Ulcers
3. Erosions
4. Excoriations
5. Fissures
6. Crusts
7. Scars
8. Lichenification.

4.1.2.1. Definition of secondary skin lesions

Scales consist of compressed layers of stratum corneum cells that are
retained on the skin surface.
Erosions involve focal loss of the epidermis, and they heal without
scarring.
Ulcers extend into the dermis and tend to heal with scarring.
Excoriations is ulcerated lesions inflicted by scratching are often linear or
angular in configuration.
Fissures are caused by splitting or cracking; they usually occur in diseased
skin.
Crusts consist of matted, retained accumulations of blood, serum, pus,
and epithelial debris on the surface of a weeping lesion.
Scars are end-stage lesions that can be thin, depressed and atrophic,
raised and hypertrophic, or flat and pliable; they are composed of fibrous
connective tissue.
Lichenification is a thickening of skin with accentuation of normal skin
lines that is caused by chronic irritation (rubbing and scratching) or
inflammation.

A. Scale
(e.g. dandruff and psoriasis)

B. Erosion
(e.g. rupture of a vesicle)

50

Pediatric Spots

C. Ulcer
(e.g. stasis ulcer and chancre)

D. Excoriation
(e.g. abrasion and scratch mark)

E. Fissure
(e.g. cheilitis and athlete's foot)

F. Crust
(e.g. scabs and impetigo)

G. Scar
(e.g. healed wound)

H. Lichenification
(e.g. atopic dermatitis)

Figs 4.2A to H: Secondary skin lesions

Dermatology

51

4.2. Nonpathological Neonatal Skin Lesions

1. Sebaceous hyperplasia
2. Milia
3. Cutis marmorta
4. Harlequin color change
5. Salmon patch (nevus simplex)
6. Mongolian spots
7. Erythema toxicum
8. Transient neonatal pustular melanosis.
1. Sebaceous hyperplasia:
Minute, profuse, yellow-white papules are frequently found on the
forehead, nose, upper lip and cheeks of a term infant.
They represent hyperplastic sebaceous glands.

Fig. 4.3: Sebaceous hyperplasia

2. Milia: These are superficial epidermal inclusion cysts that contain

laminated kerati-nized material.

Fig. 4.4: Milia

52

Pediatric Spots

3. Cutis marmorta:
An evanescent, lacy, reticulated red and/or blue cutaneous vascular
pattern appears over most of the body surface.
When a newborn infant is exposed to low environmental temperatures.
4. Harlequin color change:

Fig. 4.5: Cutis marmorata

Occurs in the immediate newborn period and is most common in low

birth weight (LBW) infants.
It probably reflects an imbalance in the autonomic vascular regulatory
mechanism.
The color change lasts only for a few minutes and occasionally affects
only a portion of the trunk or face.
Changing the infant's position may reverse the pattern.
5. Salmon patch (nevus simplex):

Fig. 4.6: Harlequin color change

Dermatology

53

These are small, pale pink, ill-defined, vascular macules that occur
most commonly on the glabella, eyelids, upper lip, and nuchal area of
3040% of normal newborn infants.
Represent localized vascular ectasia.
Persist for several months and may become more visible during crying
or changes in environmental temperature.
6. Mongolian spots:

Fig. 4.7: Salmon patch

Blue or slate-gray macular lesions, have variably defined margins.

They occur most commonly in the presacral area but may be found over
the posterior thighs, legs, back and shoulders.
More than 80% of black, Asian and East Indian infants have these
lesions, whereas the incidence in white infants is <10%.
The peculiar hue of these macules is due to the dermal location of
melanin-containing melanocytes that are presumably arrested in their
migration from neural crest to epidermis.
7. Erythema toxicum:

Fig. 4.8: Mongolian spots

54

Pediatric Spots

A benign, self-limited and evanescent eruption.

Occurs in 50% of full-term infants; preterm infants are affected less
commonly.
The lesions are firm, yellow-white, 12 mm papules or pustules with a
surrounding erythematous flare.
Peak incidence occurs on the 2nd day of life.
The eosinophils can be demonstrated in Wright-stained smears of the
intralesional contents.
8. Transient neonatal pustular melanosis:

Fig. 4.9: Erythema toxicum

It is more common among black than among white infants .

It is a transient, benign and self-limited dermatosis of unknown cause.
It is characterized by 3 types of lesions:
Evanescent superficial pustules.
Ruptured pustules with a collarette of fine scale, at times with a
central hyperpigmented macule.
Hyperpigmented macules.

Fig. 4.10: Transient neonatal pustular melanosis

Dermatology

55

4.3. Disorders with Caf-au-lait Spots

Neurofibromatosis
McCune-Albright syndrome
Russell-Silver syndrome
Ataxia telangiectasia
Fanconi anemia
Tuberous sclerosis
Bloom syndrome
Basal cell nevus syndrome
Gaucher disease
Chdiak-Higashi syndrome
Hunter syndrome
Maffucci syndrome
Multiple mucosal neuroma syndrome
Watson syndrome.

Bibliography

1. http://dermnetnz.org/vascular/cutis-marmorata.html
2. http://www.derm-hokudai.jp/shimizu-dermatology/pdf/04-02.pdf
3. http://www.dermrounds.com/photo
4. http://www.pediatriconcall.com/fordoctor/imagegallery
5. http://www.pediatrics.wisc.edu/education/derm/text.htm
6. http://www.webmd.com/skin-problems-and-treatments/picture-of-erythematoxicum-neonatorum
7. http://www.webmd.com/skin-problems-and-treatments/picture-ofmongolian-spots
8. http://www.webmd.com/skin-problems-and-treatments/picture-of-transientneonatal-pustular-melanosis.
9. Stephan MR, Kirby MB, Blackwell KM. Common newborn Dermatologic
conditions. Clinics in Family Practice 5(3). September 2003.

CHAPTER

Endocrinology
5.1. Relationship between Average Blood Glucose Level (mmol/L)

and 'Glycosylated Hemoglobin (HbA1c)
1. Glycosylated hemoglobin (HbA1c) is a form of hemoglobin that is
measured primarily to identify the average plasma glucose concentration
over prolonged periods of time usually 812 weeks.
2. (HbA1c) levels by coincidence nearly equate to glucose levels.
3 A normal nondiabetic HbA1c is 3.55.5%.
4. In diabetes about 6.5% is good.
HbA1c%
13
12
11
10
9
8
7
6
5

Average blood glucose level mmol/L

18
17
15
13
12
10
8
7
5

5.2. Drugs and Conditions that Affect Thyroid Function Tests

Increased TBG

Decreased TBG Blocks peripheral

conversion of
T4T3

Blocks thyroid
release of
T4 and T3

Estrogen:
Androgens
Propranolol
Supplements Glucocorticoids Glucocorticoids
Contraceptives
Pregnancy

Lithium

Tamoxifen
Clofibrate
Narcotics

Iodine

Nephrotic
syndrome

Propylthiouracil

Contd...

Endocrinology

57

Contd...
Increased TBG

Decreased TBG Blocks peripheral

conversion of
T4T3

Hepatitis
Biliary cirrhosis

Genetics
Familial

Blocks thyroid
release of
T4 and T3

Amiodarone

5.3. Overview of a Thyroid Function Workup

1st test
sTSH

High

Low

2nd test

3rd test

FT4I, FT4E, FT4

Clinical status

Low

Primary hypothyroidism

N/A

Normal

Incipient/subclinical
hypothyroidism

TRH to confirm

High

Pituitary hyperthyroidism

N/A

High

Thyrotoxicosis

RAIU

Normal

Incipient /subclinical
hyperthyroidism

TRH to confirm

Low

Pituitary hypothyroidism

N/A

N.B.N/A: Nonapplicable, RAIU: Radioiodine uptake

5.4. Symmetrical Goiter

Clinically

FT4

TSH

ATA

Anti TPO

TSI

Imaging

Hypo

Yes

Yes

Yes

Yes

No

No

Hyper

Yes

Yes

Yes

Yes

Yes

No

Euthyroid

Yes

Yes

Yes

Yes

No

No

Imaging usually is not necessary for goiter but occasionally may be helpful for
hyperthyroidism with goiter
ATA: Antithyroid antibodies; Anti TPO: Antithyroid peroxidase antibodies; TSI:
Thyroid stimulating immunoglobulin

5.5. Thyroid Scans are Used for the Following Reasons

1.
2.
3.
4.

Identifying nodules and determining if they are "hot" or "cold".

Measuring the size of the goiter prior to treatment.
Follow-up of thyroid cancer patients after surgery.
Locating thyroid tissue outside the neck, i.e. base of the tongue or in the
chest.

58

Pediatric Spots

5.6. Relationship between Calcium, Phosphate and

Vitamin D Metabolism
Calcium Phosphate

Due to

High

High

High levels of vitamin D

Low

Low

Low levels of vitamin D

High

Low

Hyperparathyroidism

Low

High

Hypoparathyroidism

5.7. Differential Diagnosis of Rickets

Type of Rickets

Ca

Phos

Alk
Phos

Vit. D
deficiency

Mild

NL,
Low

NL,
Low

High

Low

NL

NL

Moderate

NL,
Low

Low

Very
high

Low

NL

High

Severe

Low

Low

Very
high

Very
low

Low

Very
high

NL

Very
low

High

NL

NL,
Low

NL

25OHase

NL

Low

High

Low

High

1-alphaOHase

Very
low

Very
low

Very
high

NL

Low

Very
high

Very
low

Very
low

High

NL

Very
high

High

F HR
Deficiency
of

Resist 1, 25-OH

25-OHD 1, 25-OHD

PTH

5.8. Insulin Therapy

Type

Examples

Appearance

Onset

Peak

Duration

Rapidacting

Apidra
(insulin
Glulisine)

Clear

515
minutes

3060
minutes

35
hours

Humalog
(insulin
Lispro)

Clear

515
minutes

3090
minutes

35
hours

Novolog
(insulin
Aspart)

Clear

515
minutes

4050
minutes

35
hours
Contd...

Endocrinology

59

Contd...
Type

Examples

Appearance

Onset

Peak

Duration

Short-acting

Humulin-R
(insulin
regular)

Clear

30
minutes

12
hours

68
hours

Intermediateacting

Humulin-N
(insulin
NPH)

Cloudy

14
hours

412
hours

1424
hours

Long-acting

Lantus
(insulin
Glargine)

Clear

12
hours

Minimal
peak

Upto 24
hours

Levemir
(insulin
Detemir)

Clear

2 hours

Minimal
peak

Upto
24 hours

5.8. 1. Insulin therapyTypes, peak and duration

Fig. 5.1: Graph of types, peak and duration of various insulin therapy

60

Pediatric Spots

Fig. 5.2: Types, peak and duration of various insulin therapy

Bibliography

1. http://emedicine.medscape.com
2. http://www.diabetes.co.uk
3. http://www.diabetes.org
4. http://www.endocrine.niddk.nih.gov

CHAPTER

Fluids, Electrolytes and Nutrition

6.1. Glucose in the Maintenance Fluids
Provides approximately 20% of the normal caloric needs.
Prevents the development of starvation ketoacidosis.
Diminished the protein degradation that would occur if the patient
received no calories.
Provides added osmoles thus avoiding the administration of hypotonic
fluids that may cause hemolysis.

6.2. Goals of Maintenance Fluids to Prevent

Dehydration
Electrolyte disorders
Ketoacidosis
Protein degradation.

6.3. Body Weight Method for Calculating Daily Maintenance

Fluid Volume
Body weight

Fluid per day

010 kg

100 mL/kg

1120 kg

1,000 mL + 50 mL/kg for each kg > 10 kg

>20 kg

1,500 mL + 20 mL/kg for each kg > 20 kg*

*The maximum total fluid per day is 2,400 mL

6.4. Hourly Maintenance Water Rate

Body weight

Hourly maintenance water rate

010 kg

4 mL/kg/hour

1020 kg

40 mL/hour + 2 mL/kg/hour (wt. 10 kg)

>20 kg

60 mL/hour + 1 mL/kg/hour (wt. 20 kg)*

*The maximum fluid rate is normally 100 mL /hour

62

Pediatric Spots

6.5. Composition of Intravenous Fluids

Fluid

[Na+]

[Cl]

Normal saline (0.9% NaCl)

154

154

Normal saline (0.45% NaCl)

77

77

0.2 Normal saline (0.2% NaCl)

34

34

130

109

Ringer lactate

[K+]

[Ca2+]

[Lactate]

28

6.6. Natural Sources of Water Loss

Source

Urine

60%

Insensible loss (skin and lung)

~ 35%

Stool

5%

6.7. Adjustments in Maintenance Water

Source

Causes of increased
water needs

Causes of decreased
water needs

Radiant warmer

Incubator (premature infant)

Skin
Phototherapy
Fever
Sweat
Burns
Lungs
Tachypnea

Humidified ventilator

Tracheostomy
Gastrointestinal tract
Diarrhea
Emesis
Nasogastric suction
Renal
Polyuria

Oliguria/anuria

Surgical drain

Hypothyroidism

Miscellaneous
Third spacing

Fluids, Electrolytes and Nutrition

63

6.8. Replacement Fluid for Diarrhea

Average composition of diarrhea
Electrolyte

Amount

Sodium

55 mEq/L

Potassium

25 mEq/L

Bicarbonate

15 mEq/L

Approach to replacement of ongoing losses

Solution: D5 0.2 normal saline +20 mEq/L sodium bicarbonate +20 mEq/L KCl
Replace stool mL/mL every 16 hours.

6.9. Replacement Fluid for Emesis or Nasogastric Losses

Average composition of gastric fluid
Electrolyte

Amount

Sodium

60 mEq/L

Potassium

10 mEq/L

Chloride

90 mEq/L

Approach to replacement of ongoing losses

Solution: Normal saline +10 mEq/L KCl
Replace output mL/mL every 16 hours.

6.10. Adjusting Fluid Therapy for Altered Renal Output

Oliguria/Anuria
Place patient on insensible fluids (2540% of maintenance)
Replace urine output mL/mL with normal saline.
Polyuria
Place patient on insensible fluids (2540% of maintenance).
Measure urine electrolytes.
Replace output mL/mL with solution based on measured urine
electrolytes.

64

Pediatric Spots

6.11. Clinical Evaluation of Dehydration

6.11.1. Mild dehydration
Mild dehydration (< 5% in an infant, <3% in an older child or adult)
Normal or increased pulse
Decreased urine output
Thirsty
Normal physical findings.

6.11.2. Moderate dehydration

Moderate dehydration (510% in an infant, 36% in an older child or
adult)
Tachycardia
Little or no urine output
Irritable/lethargy
Sunken eyes and fontanel
Decreased tears
Dry mucous membrane
Mild delay in elasticity (skin turgor)
Delay capillary refill (>1.5 sec)
Cool and pale.

6.11.3. Severe dehydration

Severe dehydration (>10% in an infant, >6% in an older child or adult)
Rapid and weak or absent peripheral pulses
Decreased blood pressure
No urine output
Very sunken eyes and fontanel
No tears
Parched mucous membranes
Delayed elasticity (poor skin turgor)
Very delayed capillary refill (>3 sec)
Cold and mottled
Limp
Depressed consciousness.

6.12. Fluid Management of Dehydration

6.12.1. Steps
Step. 1
Restore intravascular volume
Normal saline: 20 mL/kg over 20 minutes
Repeat as needed.

Fluids, Electrolytes and Nutrition

65

Step. 2
Rapid volume repletion: 20 mL/kg normal saline or Ringer lactate
(maximum = 1L) over 2 hours.
Step. 3
Calculate 24 hours fluid needs: Maintenance + deficit volume.
Step. 4
Subtract isotonic fluid already administered from 24 hours fluid needs.
Step. 5
Administer remaining volume over 24 hours. Using D5 normal saline
+20 mEq/L KCl.
Step. 6
Replace ongoing losses as they occur.

6.13. Monitoring Therapy

Vital signs
Pulse
Blood pressure.
Intake and output
Fluid balance
Urine output and specific gravity.
Physical examination
Weight
Clinical signs of depletion or overload.
Electrolytes.

6.14. Treatment of Hypernatremic Dehydration

6.14.1. Steps
Step. 1: Restore intravascular volume
Normal saline: 20 mL/kg over 20 minutes
Repeat until intravascular volume restored.
Step. 2: Determiner time for correction based on initial sodium

66

Pediatric Spots

Step. 3: Administer fluid at constant rate over time for correction

Serum sodium
145157 mEq/L
158170 mEq/L
171183 mEq/L
184196 mEq/L

Time for correction

24 hours
48 hours
72 hours
84 hours

Typical fluid: D5 normal saline (with 20 mEq/L KCl unless

contraindicated).
Typical rate: 1.251.5 times maintenance.
Step. 4: Follow serum sodium concentration
Step. 5: Adjust fluid based on clinical status and serum
sodium concentration
Signs of volume depletion: Administer normal saline 20 mEq/kg
Sodium decreases too rapidly:
Increase sodium concentration of intravenous fluid
Decrease rate of intravenous fluid.
Sodium decreases too slowly:
Decrease sodium concentration of intravenous fluid
Increase rate of intravenous fluid.
Step. 6: Replace ongoing losses as they occur

6.15. Treatment of Hyponatremic Dehydration

6.15.1. Steps
Step. 1: Restore intravascular volume
The initial goal in treating hyponatremia is correction of intravascular
volume depletion with isotonic fluid (NS or LR).
An overcorrection in the serum sodium concentration (>135 mEq/L) is
associated with an increased risk of central pontine myelinolysis (CPM).
The risk of CPM also increased with overly rapid correction of the serum
sodium concentration.
It is best to avoid increasing the sodium >12 mEq/L each 24 hours.
Patients with neurologic symptoms (seizures) as a result of hyponatremia
need to receive an acute infusion of hypertonic (3%) saline to increase the
serum sodium concentration rapidly.

Fluids, Electrolytes and Nutrition

67

Step. 2: Notes
Each mL/kg of 3% sodium chloride increases the serum sodium by
approximately 1 mEq/L.
A child with active symptoms often improves after receiving 46 mL/kg of
3% sodium chloride.

6.16. A Guideline for Oral Rehydration

Mild dehydration

50 mL /kg of the oral

rehydration solution (ORS)

Given within 4
hours

Moderate dehydration

100 mL/kg (ORS)

Over 4 hours

Additional

10 mL/kg (ORS)

For each stool

6.17. Composition of Oral Rehydration Solutions (ORS)

Solution

Glucose Na+
K+
Cl
Base
Osmolality
(mmol/L) (mEq/L) (mEq/L) (mEq/L) (mEq/L) (mOsm/kg)

WHO solution 111

90

20

80

30

311

Rehydralyte

140

75

20

65

30

310

Pedialyte

140

45

20

35

30

250

Pediatric
electrolyte

140

45

20

35

55

250

Infalyte

70*

50

25

45

34

200

Naturalyte

140

45

20

35

55

238

*Rice syrup solids are the carbohydrate source

6.18. Composition of Oral Rehydration Salts Solution for Severely

Malnourished Children (ReSoMal)
Component

Concentration (mmol/L)

Glucose

125

Sodium

45

Potassium

40

Chloride

70

Citrate

Magnesium

Zinc

0.3

Copper

0.045

Osmolarity

300

68

Pediatric Spots

6.19. Causes of Hypernatremia

1. Excess sodium
Improperly mixed formula.
Excess sodium bicarbonate.
Ingestion of seawater or sodium chloride.
Intentional salt poisoning (child abuse or Munchausen syndrome by
proxy).
Intravenous hypertonic saline.
Hyperaldosteronism.
2. Water deficit
Nephrogenic diabetes insipidus
Acquired
X-linked
Autosomal recessive
Autosomal dominant.
Central diabetes insipidus:
Acquired
Autosomal recessive
Autosomal dominant
Wolfram syndrome.
Increased insensible losses:
Premature infants
Radiant warmers
Phototherapy.
Inadequate intake:
Ineffective breastfeeding
Child neglect or abuse
Adipsia (lack of thirst).
3. Water and sodium deficit
Gastrointestinal losses:
Diarrhea
Emesis/nasogastric suction
Osmotic cathartics (lactulose).
Cutaneous losses:
Burns
Excessive sweating.
Renal losses:
Osmotic diuretics (mannitol)
Diabetes mellitus
Chronic kidney disease (dysplasia and obstructive uropathy)
Polyuric phase of acute tubular necrosis.
Postobstructive diuresis.

Fluids, Electrolytes and Nutrition

69

6.20. Causes of Hyponatremia

1. Extrarenal losses
Gastrointestinal (emesis and diarrhea)
Skin (sweating or burns)
(Third space losses).
2. Renal losses
Thiazide or loop diuretics
Osmotic diuresis
Postobstructive diuresis
Polyuric phase of acute tubular necrosis
Juvenile nephronophthisis
Autosomal recessive polycystic kidney disease
Tubulointerstitial nephritis
Obstructive uropathy
Cerebral salt wasting
Proximal (type II) renal tubular acidosis
Lack of aldosterone effect (high serum potassium):
Absence of aldosterone (e.g. 21-hydroxylase deficiency)
Pseudohypoaldosteronism type I
Urinary tract obstruction and/or infection.
3. Euvolemic hyponatremia
Syndrome of inappropriate antidiuretic hormone secretion
Nephrogenic syndrome of inappropriate antidiuresis
Desmopressin acetate
Glucocorticoid deficiency
Hypothyroidism
Water intoxication:
Iatrogenic (excess hypotonic intravenous fluids)
Feeding infants excessive water products
Swimming lessons
Tap water enema
Child abuse
Psychogenic polydipsia
Diluted formula.
4. Hypovolemic hyponatremia
Congestive heart failure.
Cirrhosis.
Nephrotic syndrome.
Renal failure.
Capillary leak due to sepsis.
Hypoalbuminemia due to gastrointestinal disease (protein-losing
enteropathy).

70

Pediatric Spots

6.21. Causes of Hyperkalemia

1. Transcellular shifts
Acidosis
Rhabdomyolysis
Tumorlysis syndrome
Tissue necrosis
Hemolysis/hematomas/gastrointestinal bleeding
Malignant hyperthermia
Hyperkalemic periodic paralysis
Succinylcholine
Digitalis intoxication
Fluoride intoxication
a-adrenergic blockers
Insulin deficiency
Hyperosmolality
Exercise.
2. Decreased excretion
Renal failure
Hyporeninemic hypoaldosteronism:
Urinary tract obstruction
Sickle cell disease
Kidney transplant
Lupus nephritis
Primary adrenal disease:
Acquired Addison disease
21-hydroxylase deficiency
3a-hydroxysteroid dehydrogenase deficiency
Lipoid congenital adrenal hyperplasia
Adrenal hypoplasia congenita
Aldosterone synthase deficiency
Adrenoleukodystrophy.
Renal tubular disease:
Pseudohypoaldosteronism type I
Pseudohypoaldosteronism type II
Bartter syndrome, type II
Urinary tract obstruction
Sickle cell disease.
Medications:
Angiotensin II blockers
Potassium-sparing diuretics

Fluids, Electrolytes and Nutrition

71

Calcineurin inhibitors
Nonsteroidal anti-inflammatory drugs
Trimethoprim
Heparin.

6.22. Causes of Hypokalemia

1. Transcellular shifts
Alkalemia.
Insulin.
a-adrenergic agonists.
Hypokalemic periodic paralysis.
Thyrotoxic period paralysis.
Refeeding syndrome.
Drugs/toxins (theophylline, barium, toluene, cesium chloride,
hydroxychloroquine).
2. Decreased intake
Anorexia nervosa.
3. External losses
Diarrhea
Laxative abuse
Sweating
Sodium polystyrene sulfonate (kayexalate) or clay ingestion.
4. Renal losses
With metabolic acidosis
Without specific acid-base disturbance
With metabolic alkalosis:
Low urine chloride
High urine chloride and normal blood pressure
High urine chloride and high blood pressure.
Licorice ingestion
Liddle syndrome.
4.1. With metabolic acidosis
Distal renal tubular acidosis
Proximal renal tubular acidosis
Ureterosigmoidostomy
Diabetic ketoacidosis.
4.2. Without specific acid-base disturbance
Tubular toxins: Amphotericin, cisplatin, aminoglycosides
Interstitial nephritis
Diuretic phase of acute tubular necrosis
Postobstructive diuresis

72

Pediatric Spots

Hypomagnesemia
High urine anions (e.g. penicillin or penicillin derivatives).
4.3. With metabolic alkalosis
Low urine chloride
Emesis or nasogastric suction
Chloride-losing diarrhea
Cystic fibrosis
Low-chloride formula
Posthypercapnia
Previous loop or thiazide diuretic use.
High urine chloride and normal blood pressure
Gitelman syndrome.
Bartter syndrome.
Autosomal dominant hypoparathyroidism.
EAST syndrome (epilepsy, ataxia, sensorineural hearing loss, and
tubulopathy).
Loop and thiazide diuretics.
High urine chloride and high blood pressure
Adrenal adenoma or hyperplasia
Glucocorticoid-remediable aldosteronism
Renovascular disease
Renin-secreting tumor
17a-hydroxylase deficiency
11a-hydroxylase deficiency
Cushing syndrome
11a-hydroxysteroid dehydrogenase deficiency.

6.23. Causes of Hypercalcemia

1. Infant with subcutaneous fat necrosis
2. Hypophosphatasia
3. Idiopathic hypercalcemia of infancy
4. Williams syndrome (10%)
5. Hypervitaminosis D
6. Prolonged immobilization
7. Jansen-type metaphyseal chodrodysplasia.

6.24. Causes of Hyperphosphatemia

1. Transcellular shifts
Tumor-lysis syndrome
Rhabdomyolysis
Acute hemolysis
Diabetic ketoacidosis and lactic acidosis.

Fluids, Electrolytes and Nutrition

2. Increased intake
Enemas and laxatives
Cow's milk in infants
Treatment of hypophosphatemia
Vitamin D intoxication.
3. Decreased excretion
Renal failure
Hypoparathyroidism or pseudohypoparathyroidism
Acromegaly
Hyperthyroidism
Tumoral calcinosis with hyperphosphatemia.

6.25. Causes of Hypophosphatemia

1. Transcellular shifts
Glucose infusion
Insulin
Refeeding
Total parenteral nutrition
Respiratory alkalosis
Tumor growth
Bone marrow transplantation
Hungry bone syndrome.
2. Decreased intake
Nutritional
Premature infants
Low phosphorus formula
Antacids and other phosphate binders.
3. Renal losses
Hyperparathyroidism
Parathyroid hormone-related peptide
X-linked hypophosphatemic rickets
Tumor-induced osteomalacia
Autosomal dominant hypophosphatemic rickets
Autosomal recessive hypophosphatemic rickets
Fanconi syndrome
Dent disease
Hypophosphatemic rickets with hypercalciuria
Hypophosphatemic nephrolithiasis/osteoporosis type I
Hypophosphatemic nephrolithiasis/osteoporosis type II
Volume expansion and intravenous fluids
Metabolic acidosis

73

74

Pediatric Spots

Diuretics
Glycosuria
Glucocorticoids
Kidney transplantation.
4. Multifactorial
Vitamin D deficiency
Vitamin D-dependent rickets type I
Vitamin D-dependent rickets type II
Sepsis.

6.26. Causes of Hypomagnesemia

1. Gastrointestinal disorders
Diarrhea
Nasogastric suction or emesis
Inflammatory bowel disease
Celiac disease
Cystic fibrosis
Intestinal lymphangiectasia
Small bowel resection or bypass
Pancreatitis
Protein-calorie malnutrition
Hypomagnesemia with secondary hypocalcemia.
2. Renal disorders
Medications
Amphotericin
Cisplatin
Cyclosporin
Loop diuretics
Mannitol
Pentamidine
Aminoglycosided
Thiazide diuretics.
Chronic kidney diseases
Interstitial nephritis
Glomerulonephritis
Postrenal transplantation.
Associated diseases
Diabetes
Acute tubular necrosis (recovery phase)
Postobstructive nephropathy
Primary aldosteronism

Fluids, Electrolytes and Nutrition

75

Hypercalcemia
Intravenous fluids.
Genetic diseases
Gitelman syndrome.
Bartter syndrome.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Familial hypomagnesemia with hypercalciuria, nephrocalcinosis,
and severe ocular involvement.
Autosomal recessive renal magnesium wasting with normocal-ciuria.
Autosomal dominant renal magnesium wasting.
Renal cysts and diabetes syndrome.
EAST syndrome.
Autosomal dominant hypoparathyroidism.
Mitochondrial disorders.
Miscellaneous causes
Poor intake
Hungry bone syndrome
Insulin administration
Pancreatitis
Intrauterine growth retardation
Infants of diabetic mothers
Exchange transfusion.

6.27. Systematic Evaluation of an Arterial Blood Gas Sample

1. Assessment of an arterial blood gas sample requires knowledge of normal
values:
pH

7.357.45

[HCO3 ]

2028 mEq/L

PCO2

3545 mmHg

2. In most cases, this is accomplished via a 3-step process

Determine whether acidemia or alkalemia is present
Determine a cause of the acidemia or alkalemia
Determine whether a mixed disorder is present.
3. Definitions
Acidemia: It is a pH below normal (<7.35).
Alkalemia: It is a pH above normal (>7.45).

76

Pediatric Spots

Metabolic acidosis have a low serum bicarbonate concentration.

Metabolic alkalosis: The serum bicarbonate concentration is increased.
Respiratory acidosis: It is an inappropriate increase in blood carbon
dioxide (PCO2).
Respiratory alkalosis: It is an inappropriate reduction in the blood
carbon dioxide concentration.
4. The plasma anion gap
It is useful for evaluating patients with a metabolic acidosis.
It divides patients into 2 diagnostic groups, those with normal anion gap
and those with increased anion gap.
The following formula determines the anion gap.

Anion gap = [Na+] [Cl] [HCO3 ]

6.28. Plasma Osmolality

The plasma osmolality can be estimated by a calculation based on the following formula:

Osmolality = 2 [Na] + [glucose]/18 + [BUN]/2.8

6.29. Basic Mechanisms of a Metabolic Acidosis

Metabolic acidosis occur via 3 basic mechanisms:
1. Loss of bicarbonate from the body
2. Impaired ability to excrete acid by the kidney
3. Addition of acid to the body (exogenous or endogenous).

6.30. Causes of Metabolic Acidosis

I. Normal anion gap
Diarrhea
Renal tubular acidosis (RTA):

1. Distal (type I) RTA

2. Proximal (type II) RTA

3. Hyperkalemic (type IV) RTA
Urinary tract diversions
Posthypocapnia
Ammonium chloride intake.
II. Increased anion gap

1. Lactic acidosis:
Tissue hypoxia:
Shock
Hypoxemia
Severe anemia
Liver failure

Fluids, Electrolytes and Nutrition

Malignancy
Intestinal bacterial overgrowth
Inborn errors of metabolism
Medications:
Nucleoside reverse transcriptase inhibitors
Metformin
Propofol.

2. Ketoacidosis:
Diabetic ketoacidosis
Starvation ketoacidosis
Alcoholic ketoacidosis
Kidney failure.

3. Poisoning:
Ethylene glycol
Methanol
Salicylate
Toluene
Paraldehyde.

4. Inborn errors of metabolism

6.31. Causes of Metabolic Alkalosis

I. Chloride-responsive (urinary chloride < 15 mEq/L)
Gastric loss:
Emesis
Nasogastric suction
Diuretics (loop or thiazide)
Chloride-losing diarrhea
Chloride-deficient formula
Cystic fibrosis
Posthypercapnia.
II. Chloride-resistant (urinary chloride > 20 mEq/L)

1. High blood pressure:
Adrenal adenoma or hyperplasia
Glucocorticoid-remediable aldosteronism
Renovascular disease
Renin-secreting tumor
17a-hydroxylase deficiency
11a-hydroxylase deficiency
Cushing syndrome
11a-hydroxysteroid dehydrogenase deficiency
Licorice ingestion
Liddle syndrome.

77

78

Pediatric Spots

2.

Normal blood pressure:

Gitelman syndrome
Bartter syndrome
Autosomal dominant hypoparathyroidism
EAST syndrome
Base administration.

6.32. Causes of Respiratory Acidosis

I. Central nervous system depression
Encephalitis

Stroke

Head trauma

Hypoxic brain damage

Brain tumor

Obesity-hypoventilation
(Pickwickian syndrome)

Central sleep apnea

Increased intracranial pressure

Primary pulmonary hypoventilation Medications:

Narcotics
Benzodiazepines
Barbiturates

II. Disorder of the spinal cord peripheral nerves, or neuromuscular junction

Diaphragmatic paralysis

Botulism

Guillain-Barr syndrome

Myasthenia

Poliomyelitis

Multiple sclerosis

Spinal muscular atrophies

Spinal cord injury

Tick paralysis

Medications:
Vecuronium
Aminoglycosides
Organophosphates

III. Respiratory muscle weakness

Muscular dystrophy

Hypokalemia

Hypothyroidism

Hypophosphatemia

Malnutrition

Medications:
Succinylcholine
Corticosteroids

Fluids, Electrolytes and Nutrition

79

IV. Pulmonary diseases

Pneumonia

Adult respiratory distress syndrome

Pneumothorax

Neonatal respiratory distress syndrome

Asthma

Cystic fibrosis

Bronchiolitis

Bronchopulmonary dysplasia

Pulmonary edema

Meconium aspiration

Pulmonary hemorrhage

Pulmonary thromboembolus

Interstitial fibrosis
V. Upper airway diseases
Aspiration

Tonsillar hypertrophy

Laryngospasm

Vocal cord paralysis

Angioedema

Extrinsic tumor

Obstructive sleep apnea

Extrinsic or intrinsic hemangioma

VI. Miscellaneous
Flail chest

Kyphoscoliosis

Cardiac arrest

Decreased diaphragmatic movement due to ascites

or peritoneal dialysis

6.33. Causes of Respiratory Alkalosis

I. Hypoxemia or tissue hypoxia
Pneumonia

Laryngospasm

Pulmonary edema

Aspiration

Cyanotic heart disease

Carbon monoxide poisoning

Congestive heart failure

Pulmonary embolism

Asthma

Interstitial lung disease

Severe anemia

Hypotension

High altitude
II. Lung receptor stimulation
Pneumonia

Hemothorax

Pulmonary edema

Pneumothorax

Asthma

Pulmonary embolism

Respiratory distress syndrome

(adult or infant)

80

Pediatric Spots

III. Central stimulation

1. Central nervous system disease:
Subarachnoid hemorrhage
Encephalitis or meningitis
Trauma
Brain tumor
Stroke
2. Other causes
Fever

Sepsis

Pain

Mechanical ventilation

Anxiety (panic attack)

Hyperammonemia

Psychogenic hyperventilation or Extracorporeal membrane

anxiety
oxygenation or hemodialysis
Liver failure
Medications:
Salicylate intoxication
Theophylline
Progesterone
Exogenous catecholamines
Caffeine

6.34. Causes of Rickets

I. Vitamin D disorders
1. Nutritional vitamin D deficiency
2. Congenital vitamin D deficiency
3. Secondary vitamin D deficiency:
Malabsorption
Increased degradation
Decreased liver 25-hydroxylase
4. Vitamin D-dependent rickets type I
5. Vitamin D-dependent rickets type II
6. Chronic renal failure

Fluids, Electrolytes and Nutrition

81

II. Calcium deficiency

1. Low intake:
Diet
Premature infants (rickets of prematurity)
2. Malabsorption:
Primary disease
Dietary inhibitors of calcium absorption
III. Phosphorus deficiency
1. Inadequate intake
Premature infants (rickets of prematurity)
Aluminum-containing antacids
IV. Renal losses
1. X-linked hypophosphatemic rickets
2. Autosomal dominant hypophosphatemic rickets
3. Autosomal recessive hypophosphatemic rickets
4. Hereditary hypophosphatemic rickets with hypercalciuria
5. Overproduction of phosphatonin:
Tumor-induced rickets
McCune-Albright syndrome
Epidermal nevus syndrome
Neurofibromatosis
6. Fanconi syndrome
7. Dent disease
8. Distal renal tubular acidosis

6.35. Absolute and Relative Contraindications to Breastfeeding

due to Maternal Conditions
1. HIV and HTLV infection
In the USA, breastfeeding is contraindicated.
In other settings, health risks of not breastfeeding must be weighed
against the risk of transmitting virus to the infant.
2. Tuberculosis infection
Breastfeeding is contraindicated until completion of approximately 2
week of appropriate maternal therapy.
3. Varicella-zoster infection
Infant should not have direct contact to active lesions
Infant should receive immune globulin.

82

Pediatric Spots

4. Herpes simplex infection

Breastfeeding is contraindicated with active herpetic lesions of the
breast.
5. CMV infection
May be found in milk of mothers who are CMV seropositive
Transmission through human milk
Causing symptomatic illness in term infants is uncommon.
6. Hepatitis B infection
Infants routinely receive hepatitis B immune globulin and hepatitis B
vaccine if mother is HbsAg positive.
No delay in initiation of breastfeeding is required.
7. Hepatitis C infection
Breastfeeding is not contraindicated.
8. Cigaret smoking
Discourage cigaret smoking, but smoking is not a contraindication to
breastfeeding.
9. Chemotherapy and radiopharmaceuticals
Breastfeeding is generally contraindicated.

6.36. Formula Feeding

6.36.1. Facts
Infant formulas are available in:
Ready-to-feed
Concentrated liquid
Powder forms.
Ready-to-feed products generally provide 20 kcal/30 mL (1 oz).

6.36.2. Cow's milk protein-based formulas

Intact cow's milk-based formulas contain a protein concentration varying
from 1.451.6 gm/dL
{Considerably higher than in mature breast milk (~1 gm/dL)}.
The whey:casein ratio varies from 18:8260:40 .
The predominant whey protein is a-globulin in bovine milk
{a-lactalbumin in human milk}.
Plant or a mixture of plant and animal oils are the source of fat in infant
formulas, and fat provides 4050% of the energy in cow's milk-based
formulas.
Lactose is the major carbohydrate in mother's milk and in standard cow's
milk-based infant formulas for term infants.

Fluids, Electrolytes and Nutrition

83

6.36.3. Soy formulas

Soy protein-based formulas on the market are all free of cow's milk protein
and lactose and provide 67 kcal/dL.
The protein is a soy isolate supplemented with l-methionine, l-carnitine,
and taurine to provide a protein content of 2.452.8 gm per 100 kcal.
The fat content is 5.05.5 gm per 100 kcal or 3.43.6 gm/dL. The oils used
include soy, palm, sunflower, olein, safflower and coconut. DHA and ARA
are now added routinely.
Indications include galactosemia and hereditary lactase deficiency.
The routine use of soy protein-based formula has no proven value in the
prevention or management of infantile colic, fussiness, or atopic disease.
Infants with documented cow's milk protein-induced enteropathy or
enterocolitis often are also sensitive to soy protein and should not be
given isolated soy protein-based formula.

6.36.4. Protein hydrolysate formula

Protein hydrolysate formulas may be:
1. Partially hydrolyzed, containing oligopeptides with a molecular weight of
<5000 d.
2. Extensively hydrolyzed, containing peptides with a molecular weight
<3000d.
1. Partially hydrolyzed proteins
Have fat blends similar to cow's milk-based formulas.
Carbohydrates are supplied by corn maltodextrin or corn syrup solids

Because the protein is not extensively hydrolyzed, these formulas
should not be fed to infants who are allergic to cow's milk protein.
2. Extensively hydrolyzed formulas
May be more effective than partially hydrolyzed in preventing atopic
disease.
Extensively hydrolyzed formulas are the preferred formulas for infants
intolerant to cow's milk or soy proteins
These formulas are lactose-free and can include medium-chain
triglycerides.
They are useful in infants with gastrointestinal malabsorption due
to:

1. Cystic fibrosis

2. Short gut syndrome

3. Prolonged diarrhea.

84

Pediatric Spots

6.36.5. Amino acid formulas

Amino acid formulas are peptide-free formulas that contain mixtures of
essential and nonessential amino acids.
They are specifically designed for infants with dairy protein allergy who
failed to thrive on extensively hydrolyzed protein formulas.

6.37. Endocrine Causes of Obesity

Disease

Symptoms

1. Cushing
syndrome

Central obesity
Hirsutism

2. Growth hor Short stature

mone deficiency

Laboratory
tests

Moon face
Hypertension

Dexamethasone suppression test

Slow linear growth

Evoked GH
response
IGF-1

3. Hyperinsulinism Nesidioblastosis Hypoglycemia

Pancreatic
Mauriac syndrome
adenoma

Insulin level

4. Hypothyroidism Short stature

Weight gain
Fatigue

Constipation
Cold intolerance
Myxedema

TSH
FT4

5. Pseudohypoparathyroidism

Mental retardation
Urine cAMP
Short stature
after synthetic
Hypocalcemia
PTH infusion
Hyperphosphatemia

Short
metacarpals
Subcutaneous
calcifications
Dysmorphic
facies

6.38. Genetic Causes of Obesity

Disease

Symptoms

Laboratory tests

1. Alstrom
syndrome

Cognitive
impairment
Retinitis
pigmentosa
Diabetes mellitus

Hearing loss
Hypogonadism
Retinal
degeneration

ALMS1 gene

2. BardetBiedl
syndrome

Retinitis
pigmentosa
Renal
abnormalities

Polydactyly
Hypogonadism

BBS1 gene

Contd...

Fluids, Electrolytes and Nutrition

85

Contd...
Disease

Symptoms

3. Biemond
syndrome

Cognitive
impairment
Iris coloboma

4. Carpenter
syndrome

Polydactyly
Syndactyly
Cranial synostosis
Mental retardation

Mutations in the
RAB23 gene,
located on
chromosome 6 in
humans

5. Down
syndrome

Short stature
Dysmorphic facies
Mental retardation

Mutations in the
VPS13B gene
(often called the
COH1 gene) at
locus 8q22

6. Cohen
syndrome

Midchildhoodonset obesity
Short stature
Prominent
maxillary incisors

7. Frohlich
syndrome

Hypothalamic
tumor

Hypogonadism
Polydactyly

Hypotonia
Mental retardation
Microcephaly
Decreased visual
activity

Mutations in the
VPS13B gene
(often called the
COH1 gene) at
locus 8q22

8. Prader Neonatal
Hyperphagia
Willi
hypotonia
leading to severe
Syndrome Slow infant
obesity
growth
Paradoxically
Small hands and
elevated ghrelin
feet
Mental retardation
Hypogonadism

Partial deletion of
chromosome 15 or
loss of paternally
expressed genes

9. Turner
syndrome

XO chromosome

Ovarian
dysgenesis
Lymphedema
Web neck

Bibliography

Laboratory tests

1. http://ajcn.nutrition.org
2. http://emedicine.medscape.com
3. http://web.squ.edu.om
4. http://www.cdc.gov

Short stature
Cognitive
impairment

CHAPTER

Gastroenterology
7.1. Causes of Oropharyngeal Dysphagia
7.1.1. Neuromuscular disorders
1. Cerebral palsy
2. Brain tumors
3. Cerebrovascular accidents
4. Polio and postpolio syndromes
5. Multiple sclerosis
6. Myositis
7. Dermatomyositis
8. Myasthenia gravis
9. Muscular dystrophies.

7.1.2. Metabolic and autoimmune disorders

1. Hyperthyroidism
2. Systemic lupus erythematosus
3. Sarcoidosis
4. Amyloidosis.

7.1.3. Infectious diseases

1. Meningitis
2. Botulism
3. Diphtheria
4. Lyme disease
5. Neurosyphilis
6. Viral infections, e.g. polio, coxsackievirus, herpes and cytomegalovirus.

7.1.4. Structural lesions

1.
2.
3.
4.
5.
6.
7.
8.

Inflammatory: Abscess, pharyngitis

Congenital web
Cricopharyngeal bar
Dental problems
Bullous skin lesions
Plummer-Vinson syndrome
Zenker diverticulum
Extrinsic compression: Osteophytes, lymph nodes and thyroid swelling.

Gastroenterology

7.1.5. Others
1.
2.
3.
4.

Corrosive injury
After surgery
Side effects of medications
After radiation therapy.

7.2. Causes of Esophageal Dysphagia

7.2.1. Neuromuscular disorders
1. GERD
2. Diffuse esophageal spasm
3. Achalasia cardia
4. Scleroderma.

7.2.2. Mechanical
1. Intrinsic lesions
2. Foreign bodies
3. Esophagitis: GERD and eosinophilic esophagitis
4. Stricture: Corrosive injury, pill-induced and peptic
5. Esophageal webs
6. Esophageal rings
7. Esophageal diverticula
8. Neoplasm
9. Extrinsic lesions
10. Vascular compression
11. Mediastinal lesion
12. Cervical osteochondritis
13. Vertebral abnormalities.

7.3. Acid-base Imbalance

Fig. 7.1: Acid-base imbalance

87

88

Pediatric Spots

Fig. 7.2: pH scale

7.4. First and Second Lines of Defense Against pH Shift

7.5. Derangement in Acid-base Balance

7.5.1. Metabolic acidosis

HCO3 and pH
Increased anion gap
1. Lactic acidosis
2. Ketoacidosis
3. Drug poisoning (e.g. aspirin, ethylene, glycol and methanol).
Normal anion gap
1. Diarrhea
2. Some kidney problems (e.g. renal tubular acidosis and interstitial
nephritis).

Gastroenterology

89

7.5.2. Metabolic alkalosis

HCO3 and pH
Chloride responsive (responds to NaCl or KCl therapy)
1. Contraction alkalosis
2. Diuretics
3. Corticosteroids
4. Gastric suctioning
5. Vomiting.
Chloride resistant
1. Any hyperaldosterone state (e.g. Cushings syndrome and Bartters
syndrome and severe K+ depletion).

7.5.3. Respiratory acidosis

PaCO2 and pH
Central nervous system depression (e.g. drug overdose).
Chest bellows dysfunction (e.g. Guillain-Barr syndrome and myasthenia
gravis).
Disease of lungs and/or upper airway (e.g. chronic obstructive lung
disease).

7.5.4. Respiratory alkalosis

PaCO2 and pH
Hypoxemia (includes altitude)
Anxiety
Sepsis
Any acute pulmonary insult (e.g. pneumonia, mild asthma attack, early
pulmonary edema and pulmonary embolism).

7.6. Diagnosis of Acid-base Imbalances

1.

2.

3.

4.

Look at the pH
Is it the primary problem acidosis (low) or alkalosis (high).
Check the CO2 (respiratory indicator)
Is it less than 35 (alkalosis) or more than 45 (acidosis).

Check the HCO3 (metabolic indicator)

Is it less than 22 (acidosis) or more than 26 (alkalosis).
Which is primary disorder (respiratory or metabolic)?

If the pH is low (acidosis) look to see: If CO2 (more than 45) or HCO3
(less than 22) is the indicator of acidosis (whichever is acidosis will be
primary).

If the pH is high (alkalosis) look to see: If CO2 (less than 35) or HCO3
(more than 26) is the indicator alkalosis (whichever is alkalosis is the

90

Pediatric Spots
primary). The one that matches the pH (acidosis or alkalosis), is the
primary disorder.

7.7. Easy Blood Gas Interpretation

pH high (alkalosis) or pH low (acidosis)

High pCO2 is respiratory acidosis

Low HCO3 is metabolic acidosis

Look at the value that doesnt correspond to the observed pH change:
If it is inside the normal range, there is no compensation occurring.
If it is outside the normal range, the body is partially compensating for
the problem, i.e. compensation-attempt to normalize pH.

7.8. Compensation-attempt to Normalize pH

Primary problem

Compensation

Respiratory acidosis

Metabolic alkalosis

Respiratory alkalosis

Metabolic acidosis

Metabolic acidosis

Respiratory alkalosis

Metabolic alkalosis

Respiratory acidosis

7.9. Evaluation of Liver Function Tests

Enzyme
1. AST/ALT

Source
Liver
Heart
Skeletal
muscle
Pancreas
RBCs
Kidney

2. Alkaline
Liver
phosphatase Osteoblasts
Small
intestine
Kidney
Placenta

Increased
Decreased
Hepatocellular Vitamin B6
injury
deficiency
Rhabdomy Uremia
olysis
Muscle
dystrophy
Hemolysis
Liver cancer

Hepatocellular
injury
Bone growth,
disease,
trauma
Pregnancy
Familial

Comments
ALT more
specific than
AST for liver
AST>ALT in
hemolysis
AST/ALT
> 2 in 90%
of alcohol
disorders in
adults

Low phosphate Highest in

Wilson disease cholestatic
Zinc deficiency conditions
Hypothyroid Must be difism
ferentiated
Pernicious
from bone
anemia
source
Contd...

Gastroenterology

91

Contd...
Enzyme

Source

Increased

Decreased

Comments

3. GGT

Bile ducts
Renal
tubules
Pancreas
Small
intestine
Brain

Cholestasis
Newborn
period
Induced by
drugs

Estrogen
therapy
Artificially
low in hyperbilirubinemia

Not found in
bone
Increased
in 90% of
primary liver
disease
Biliary
obstruction
Intrahepatic
cholestasis
Induced by
alcohol
Specific for
hepatobiliary
disease in
nonpregnant
patient

7.10. Clues for Diagnosis of Functional Abdominal Pain

Pain occurs longer than 3 months.
Age of onset between 6 and 14 years of age.
Child exhibits features of abdominal pain (grimacing, guarding abdominal
muscles and rubbing painful areas).
Physical and psychological stressors exacerbate the pain.
Normal physical examination with no significant weight loss.
Stool occult blood is negative.
Normal laboratory testing (CBC, ESR, U/A, stool ova and parasites).

7.11. Clues that Indicate an Organic Cause for the Abdominal Pain

Pain awakens the child at night

Pain is localized or persistent away from umbilicus
Weight loss or FTT
Fever, rash, joint pain, mucous membrane changes/ulcers, dysuria
Sleepiness following painful attacks
Guaiac-positive stools
Anemia
Elevated ESR
Family history of peptic ulcer disease or inflammatory bowel disease.

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Pediatric Spots

7.12. Holliday-Segar Formula

7.12.1. Holliday-Segar formula for daily calories required under

basal conditions
100 kcal/kg for the first 10 kg plus
50 kcal/kg for the next 10 kg plus
20 kcal/kg for the rest of the weight.

7.12.2. Holliday-Segar formula for maintenance of calories

and fluids
Weight

kcal/day or mL/day

kcal/hour or mL/hour

010 kg

100/kg/day

4/kg/hour

1120 kg

1,000 + 50/kg/day*

40 + 2/kg/hour

>20 kg

1,500 + 20/kg/day**

60 + 1/kg/hour**

* for each kg>10

** for each kg>20

7.13. Foreign Body Ingestions

Once in the stomach, nearly 95% of the foreign bodies will pass without
problem.
Diagnosis mostly can be with standard chest X-ray, because nearly 90%
are radiopaque.
Coins have a tendency to lie in the coronal plane (face forward) in the
esophagus and the sagittal plane (on edge) in the trachea.

7.14. Certain Contraindications to Oral Replacement Therapy

Shock
Stool output > 10 mL/kg/hour
Ileus
Monosaccharide intolerance.

7.15. The Rule of 2s for Meckel Diverticulum

Occurs in 2% of the population

Localized within 2 feet of the ileocecal junction
Measures 2 inches in length
Measures 2 centimeters in diameter
Male: female ratio is 2:1
Usually symptomatic before 2 years of age.

Gastroenterology

93

7.16. Comparison of Ulcerative Colitis and Crohn Disease

Weight loss
Growth failure
Gross rectal bleeding
Aphthous mouth ulcers
Perianal lesions
Bowel involvement
Pattern of lesions
Involvement of tissue
X-ray findings
Granulomas likely
pANCA*

Ulcerative colitis (UC)

Some
Rare
Common
Rare
None
Colon and rectum only
Continuous
Mucosal only
Superficial disease, loss of
haustrations
No
60%

Crohn disease (CD)

Severe
Common
Less common
Common
Common
Anywhere from mouth
to anus
Skip lesions
Transmural disease
Thumb printing, skip
areas, string signs
Yes
1015% (mainly UClike presentations)
60%

Anti-saccharomyces
5%
antibodies
*Antineutrophil cytoplasmic antibody staining with perinuclear highlighting

7.17. Who is at High-risk for Hepatitis A Infection or Complications

High-risk behavior
Children > 2 years old living in communities with high rates
Chronic liver disease
Travel to high-risk countries
Patients with hepatitis B or C.

7.17.1. Hepatitis A; typical sequence of events following infection

Fig. 7.3: Hepatitis A typical sequence of events

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Pediatric Spots

7.18. Hepatitis B (HBV)

7.18.1. The main 3 antigenic markers in hepatitis B
1. HBsAg
2. HBcAg
3. HBeAg.

7.18.1.1. Anti-HBs IgG

Finding anti-HBs IgG in the serum indicates:
Past exposure to either hepatitis B virion or the vaccine
Immunity to the virus.

7.18.1.2. Anti-HBc IgG

The presence of anti-HBc IgG is the best marker for previous exposure to HBV.

7.18.1.3. Anti-HBe IgG

The HBe antibodies appears several weeks after illness.

7.19. Acute Hepatitis B Virus Infection with Recovery; Typical

Serology Course

Fig. 7.4: Hepatitis B typical serology course

Gastroenterology

95

7.20. The Rising and Falling Hepatitis B Serologic Markers after

Months of Exposure

Figs 7.5A and B: Hepatitis B, important diagnostic tests. A: In acute infection

and B: In chronic infection

7.21. The 3 Types of Carrier States Concerning Hepatitis B

1. Asymptomatic
2. Chronic persistent hepatitis
3. Chronic hepatitis B(CAH).

7.22. Possible Outcomes after Hepatitis B Infection

Figs 7.6A and B: Hepatitis B, possible outcomes. A: Acute infection

and B: Chronic infection

96

Pediatric Spots

7.23. Hepatitis B Scenarios

HBsAg
+
+

HBcAb
+

HBsAb
-

+
+

+
-

Interpretation
Acute infection
3-possibilities:
1. Acute infection
2. Chronic hepatitis B (high AST)
3. Carrier (normal enzymes)
2- possibilities:
1. Remote infection
2. Immunized
Remote infection
3-possibilities;
1. Window disease
2. Remote infection
3. False-positive
More than 1 infection, e.g. IV drug user
or renal dialysis patient with both acute
and chronic hepatitis B

7.24. Types of Viral Hepatitis and their Serological Tests

Anti- Anti- HBsAg
HAV HAV
IgM IgG

AntiHBs
IgM

Anti- AntiHBs HBc

IgG
IgM

Acute
hepatitis A

Previous HAV

Acute HBV

AntiHBc
IgG

HBeAg AntiHDV

+
Early

+
Late

Acute HBVwindow

Chronic
active HBV

95%

Rarely

Usually
+

Remote HBV

Immunized
HBV

Acute hepatitis D-(with

acute HBV)
Early

+
Early

+
Late

Acute
Hepatitis D(with CAH)

15%

Rarely

Usually
+

Gastroenterology

97

7.25. Conditions Associated with an Increased Risk of Hepatitis C

IV drug abusers.
Prisoners.
High-risk sexual behavior: STDs, prostitutes, > 5 sexual partners a year.
Blood transfusion before 1990.
Tattoos and body piercing.
Snoring cocaine.

7.26. Hepatitis E
Unlike hepatitis A, hepatitis E carries a very high-risk for fulminant
hepatitis in the third trimester of pregnancywith a 20% fatality rate.
With acute hepatitis and negative serology in a traveler think of hepatitis
E.

7.27. Esophageal Atresia and Tracheoesophageal Fistula

Fig. 7.7: Esophageal atresia and tracheoesophageal fistula

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Pediatric Spots

7.28. Types of Esophageal Hiatal Hernia

A. Sliding hiatal hernia (the most common type). B. Paraesophageal hiatal hernia
Fig. 7.8: Types of esophageal hiatal hernia

7.29. Congenital Duodenal Atresia

Abdominal radiograph of a newborn infant held upright. The double-bubble gas shadow
above and the absence of gas in the distal bowel in this case of congenital duodenal atresia
Fig. 7.9: Radiograph of congenital duodenal atresia

7.30. Hypertrophic Pyloric Stenosis

Barium in the stomach of an infant with projectile vomiting. The attenuated pyloric canal is
typical of congenital hypertrophic pyloric stenosis
Fig. 7.10: Radiograph of hypertrophic pyloric stenosis

Gastroenterology

99

7.31. Most Common Causes of Oropharyngeal Dysphagia

(Transfer Dysphagia)
Oropharyngeal dysphagia occurs when the transfer of the food bolus from
the mouth to the esophagus is impaired.
1. Cerebral palsy
2. Cerebrovascular accidents
3. Myasthenia gravis
4. Botulism
5. Diphtheria
6. Inflammatory: Abscess and pharyngitis
7. Congenital web
8. Plummer-Vinson syndrome
9. Corrosive injury.

7.32. Most Common Causes of Esophageal Dysphagia

Esophageal dysphagia (difficulty in swallowing) occurs when there is difficulty in transporting the food bolus down the esophagus.
1. GERD
2. Foreign body
3. Esophagitis
4. Stricture: Corrosive injury and pill induced.

7.33. Common Causes of Emesis

7.33.1. Common causes of emesis during Infancy
1. Gastroenteritis
2. Gastroesophageal reflux
3. Overfeeding
4. Anatomic obstruction
(Malrotation, pyloric stenosis and intussusception)
5. Systemic infection
6. Pertussis syndrome
7. Otitis media.

7.33.2. Common causes of emesis during childhood

1. Gastroenteritis
2. Systemic infection
3. Gastritis
4. Toxic ingestion
5. Pertussis syndrome
6. Medication

100

Pediatric Spots

7. Reflux (GERD)
8. Sinusitis
9. Otitis media
10. Anatomic obstruction (malrotation and intussusception).

7.33.3. Common causes of emesis during adolescence

1. Gastroenteritis
2. GERD
3. Systemic infection
4. Toxic ingestion
5. Gastritis
6. Sinusitis
7. Inflammatory bowel disease
8. Appendicitis
9. Migraine
10. Pregnancy
11. Medication
12. Ipecac abuse and bulimia
13. Concussion.

7.34. Common Causes of Gastrointestinal Obstruction

7.34.1. Common congenital causes of intestinal obstruction
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.

Esophageal atresia
Meconium ileus
Vascular rings
Meckel diverticulum with volvulus or intussusception
Pyloric stenosis
Meconium plug
Duodenal atresia
Hirschsprung disease
Malrotation/volvulus of small intestine
Imperforate anus
Malrotation/Ladd bands
Volvulus.

Gastroenterology

101

7.34.2. Common acquired causes of intestinal obstruction

1. Esophageal stricture
2. Foreign body
3. Achalasia
4. Bezoar and foreign body
5. Pyloric stricture (ulcer)
6. Postsurgical adhesions of small intestine
7. Intussusception
8. Ulcerative colitis (toxic megacolon).

7.35. Criteria for Cyclic Vomiting Syndrome

All of the criteria must be met for the consensus definition of cyclical vomiting syndrome:
1. At least 5 attacks in any interval, or a minimum of 3 attacks during a
6-month period.
2. Episodic attacks of intense nausea and vomiting lasting 1 hour to 10 days
and occurring at least 1 week apart.
3. Stereotypical pattern and symptoms in the individual patient.
4. Vomiting during attacks occurs 4 times/hour for 1 hour.
5. Return to baseline health between episodes.
6. Not attributed to another disorder.

7.36. Complications of Vomiting

1. Metabolic: Alkalosis and hypochloremia
2. Nutritional
3. Mallory-Weiss tear
4. Esophagitis
5. Aspiration
6. Shock
7. Pneumomediastinum and pneumothorax
8. Petechiae and retinal hemorrhages.

7.37. Common Causes of Childhood Diarrhea

7.37.1. Common causes of acute childhood diarrhea
7.37.1.1. Common causes of acute diarrhea in infancy
1. Gastroenteritis (viral > bacterial)
2. Systemic infection
3. Antibiotic associated
4. Overfeeding.

102

Pediatric Spots

7.37.1.2. Common causes of acute diarrhea in children

1.
2.
3.
4.

Gastroenteritis (viral > bacterial)

Food poisoning
Systemic infection
Antibiotic associated.

7.37.1.3. Common causes of acute diarrhea in adolescence

1. Gastroenteritis (viral > bacterial)
2. Food poisoning
3. Antibiotic associated.

7.37.2. Common causes of chronic childhood diarrhea

7.37.2.1. Common causes of chronic diarrhea in infancy
1.
2.
3.
4.
5.
6.
7.

Postinfectious secondary lactase deficiency

Cow's milk or soy protein intolerance
Chronic nonspecific diarrhea of infancy
Excessive fruit juice (sorbitol) ingestion
Celiac disease
Cystic fibrosis
AIDS enteropathy.

7.37.2.2. Common causes of chronic diarrhea in children

1. Postinfectious secondary lactase deficiency
2. Irritable bowel syndrome
3. Celiac disease
4. Lactose intolerance
5. Excessive fruit juice (sorbitol) ingestion
6. Giardiasis
7. Inflammatory bowel disease
8. AIDS enteropathy.

7.37.2.3. Common causes of chronic diarrhea in adolescence

1. Irritable bowel syndrome
2. Inflammatory bowel disease
3. Lactose intolerance
4. Giardiasis
5. Laxative abuse (anorexia nervosa)
6. Constipation with encopresis.

Gastroenterology

103

7.38. Common Causes of Constipation

Nonorganic (functional)Retentive
Organic:
1. Anal stenosis
2. Anal stricture
3. Hirschsprung disease
4. Anticholinergics
5. Hypothyroidism
6. Diabetes mellitus and diabetes insipidus
7. Anorexia nervosa.

7.39. Chronic Abdominal Pain in Children

7.39.1. Nonorganic causes of chronic abdominal pain
1. Functional abdominal pain
2. Irritable bowel syndrome
3. Nonulcer dyspepsia.

7.39.2. Gastrointestinal tract causes of chronic abdominal pain

1. Chronic constipation
2. Lactose intolerance
3. Parasite infection (specially Giardia)
4. Excess fructose or sorbitol ingestion
5. Crohn disease
6. Peptic ulcer
7. Esophagitis
8. Meckel's diverticulum
9. Recurrent intussusception
10. Chronic appendicitis or appendiceal mucocele.

7.39.3. Gallbladder and pancreas tract causes of chronic

abdominal pain
1. Cholelithiasis
2. Choledochal cyst
3. Recurrent pancreatitis.

7.39.4. Genitourinary tract causes of chronic abdominal pain

1. Urinary tract infection
2. Hydronephrosis
3. Urolithiasis.

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Pediatric Spots

7.39.5. Miscellaneous causes of chronic abdominal pain

1.
2.
3.
4.
5.
6.
7.
8.
9.

Abdominal migraine
Abdominal epilepsy
Gilbert syndrome
Familial mediterranean fever
Sickle cell crisis
Lead poisoning
Henoch-Schnlein purpura
Angioneurotic edema
Acute intermittent porphyria.

7.40. Common Causes of Gastrointestinal Bleeding in Childhood

7.40.1. Common causes of gastrointestinal bleeding in infancy
1. Bacterial enteritis
2. Milk protein allergy
3. Intussusception
4. Swallowed maternal blood
5. Anal fissure
6. Lymphonodular hyperplasia.

7.40.2. Common causes of gastrointestinal bleeding in children

1. Bacterial enteritis
2. Anal fissure
3. Colonic polyps
4. Intussusception
5. Peptic ulcer/gastritis
6. Swallowed epistaxis
7. Prolapse (traumatic) gastropathy secondary to emesis
8. Mallory-Weiss syndrome.

7.40.3. Common causes of gastrointestinal bleeding in adolescence

1.
2.
3.
4.
5.
6.
7.

Bacterial enteritis
Inflammatory bowel disease
Peptic ulcer/gastritis
Prolapse (traumatic) gastropathy secondary to emesis
Mallory-Weiss syndrome
Colonic polyps
Anal fissure.

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105

Bibliography

1. emedicalppt.blogspot.com
2. http://emedicine.medscape.com
3. http://www.asha.org/public/speech/swallowing/feedswallowchildren.htm
4. http://www.cdc.gov/hepatitis
5. http://www.cmnb.org
6. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2904303/
7. http://www.webmd.com/digestive-disorders/cyclic-vomiting-syndrome

CHAPTER

Genetics
8.1. Indications for Genetic Counseling
Advanced parental age:
Maternal age 35 years

Paternal age 50 years

Previous child with or family history of:

Congenital abnormality
Metabolic disorder
Dysmorphology
Chromosome abnormality
Mental retardation
Single-gene disorder
Isolated birth defect
Teratogen exposure (occupational and abuse)

Consanguinity
Repeated pregnancy loss or
infertility
Pregnancy screening
abnormality:
Maternal serum -fetoprotein
Fetal ultrasonography
Fetal karyotype

Heterozygote screening based on ethnic risk:

Sickle cell anemia
Tay-Sachs, Canavan, Gaucher diseases
Thalassemias

8.2. Pedigree Symbols

Fig. 8.1: Pedigree symbols

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107

8.3. Autosomal Dominant (AD) Inheritance

Fig. 8.2: Autosomal dominant inheritance

The above pedigree shows the followings:

Both sexes are equally affected.
Both sexes can transmit to offspring.
No generation is skipped (unless the trait is subtle or not completely
expressed then you may not notice it in that generation).
Every affected child has a parent with the disorder (except if this is a new
gene mutation; then this childs offspring will have a 50% risk of inheriting
this gene mutation).
There is father-to-child transmission (This excludes all X-linked and
mitochondrial transmission).

8.4. Autosomal Recessive (AR) Inheritance

Fig. 8.3: Autosomal recessive inheritance

The above pedigree shows the followings:

Both sexes are equally affected.
Males and females can each transmit the altered allele.
Disorder in one or more siblings but not in other generation.

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Pediatric Spots

The risk for 2 heterozygotes to have an affected offspring is (2 heterozygote

also can have offspring who are all affected or all unaffected).
Consanguinity increases the risk of having an offspring with an AR disorder
(figure below)

Fig. 8.4: Autosomal recessive shows consanguineous mating

8.5. X-linked Recessive (XR) Inheritance

Fig. 8.5: Sex-linked recessive inheritance

The above pedigree shows the followings:

Only females can transmit the disease to their sons, there is never male-tomale transmission.
If a generation has only females, the disease will appear to have Skipped
that generation.
An affected father transmits the disease allele to all his daughters (the
daughters are obligate carriers, but usually unaffected).
Carrier females have a 50% chance of transmitting the disease to their sons.

Genetics

109

8.6. Y-linked Inheritance

Fig. 8.6: Y-linked inheritance

Only male-to-male transmission.

Only males are affected.
Most Y-linked genes are related to male sex determination and reproduction
and are associated with infertility.
It is rare to see familial transmission of a Y-linked disorder.
Leri-Weil dyschondrosteosis:
A rare skeletal dysplasia that involves bilateral bowing of the forearms
with dislocations of the ulna at the wrist and generalized short stature.
It is a heterozygous mutations on Y-chromosome.

8.7. Mitochondrial Inheritance

Fig. 8.7: Mitochondrial inheritance

The above pedigree shows the followings:

Mitochondrial inheritance is unique because the ovum, not the sperm,
transmits all the mitochondria to their zygote.
A mother carrying a mitochondrial DNA (m-DNA) mutation will pass it on
to all her offspring.
The father carrying the mutation passes it to none.
Few disorders that are caused by mutations in the mitochondrial genome.

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Pediatric Spots

8.7.1. Myoclonic epilepsy and red-ragged fibers (MERRF)

Progressive myoclonic epilepsy

Myopathy
Dementia
Hearing loss.

8.7.2. Mitochondrial encephalopathy, with stroke-like episodes,

and lactic acidosis (MELAS)
MELAS present anytime between the ages of toddler and adolescent.

8.7.3. Leigh disease

Basal ganglia defects
Hypotonia
Optic atrophy.
In infancy and early childhood.

8.7.4. Kearns-Sayre syndrome

Ophthalmoplegia
Retinitis pigmentosa
Myopathy
Cardiac conduction defects
Pearson syndrome
Anemia
Neutropenia
Pancreatic dysfunction
Myopathy in infants.

8.8. Clues that Genetic Disorder is likely

Previous family history of genetic disorder

Positive neonatal screen
Congenital anomalies
Developmental abnormalities
Neurologic disorders
Death in utero or soon after birth
Growth abnormalities
Multiorgan dysfunction.

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111

8.9. Indications for Chromosomal Analysis

Multiple birth defects

Developmental delay and/or mental retardation
Growth abnormalities (e.g. short stature)
Abnormal sexual development
Recurrent miscarriages.

8.10. Abnormal Maternal Screen Study

The followings are indicators of increase risk of a fetus with Down syndrome
during serum screening of women under 35 years of age.
Low maternal serum -fetoprotein
Low unconjugated estriol
Elevated -HCG [human chorionic gonadotropin]
Elevated inhibin A.

8.11. Down Syndrome Features

8.11.1. Most commonly found in Down syndrome
Hypotonia
Small ears
Mental retardation.

8.11.2. More specific to Down syndrome

Brachydactyly
Absent-to very-small nipple buds
Central placement of the posterior hair whorl.

8.11.3. Common in Down syndrome, but nonspecific

Microcephaly
Up-slanted palpebral fissures
Flat midface
Full cheeks
Epicanthal folds
Single transverse crease
Speckled irises (Brushfield spots)
High-arched palate
Hypoplasia of the middle phalanx of 5th finger/clinodactyly.

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Pediatric Spots

8.11.4. Ophthalmological features in Down syndrome

1. Up-slanted palpebral fissures
2. Blepharospasm
3. Epicanthal folds
4. Nystagmus
5. Strabismus and refractory errors (very common)
6. Speckled irises (Brushfield spots)
7. Eccentric pupils
8. Cataracts (congenital in 5%).

8.11.5. Heart defects in Down syndrome

Heart defects are fairly common, occurring in nearly 50%.
1/3rd of these are AV canal defects.
1/3rd are VSDs.
1/3rd of them have ASDs of the secundum variety and tetralogy of Fallot.

8.11.6. Gastrointestinal defects in Down syndrome

Duodenal atresia and Hirschsprung disease occur in about 5% of infants.

8.11.7. Other problems of Down syndrome in childhood

Hypothyroidism
Atlantoaxial instability
Leukemia.

8.11.8. Problems of older patients with Down syndrome

DM
Thyroid disorders (both hypo and hyperthyroidism)
Atlantoaxial subluxation
Cataracts
Leukemia
Seizures
Cognitive dysfunction (during the 40s)
Dementia or early-onset Alzheimer disease.

Genetics

113

8.11.9. Anticipatory guidance for children with Down syndrome

Evaluation

Time of evaluation

All routine immunizations

Cardiac evaluation with echocardiogram Newborn period
Ophthalmologic evaluation

Before 6 months of age

Hearing evaluation

By 6 months of age

Newborn screening for hypothyroidism

Do thyroid function studies (T4, TSH)

at 3, 6, and 12 months and then
annually

Vision screening

At age 4 years

Order C-spine X-rays

At ~ 3 years of age, to monitor for

atlantoaxial instability

8.11.10. Associated findings with Down syndrome

Associated findings
Mental retardation
Hearing loss

Percentage
100%
66%

Eye disease
Serous otitis media
Cardiac defects
Thyroid disease
Gastrointestinal atresias
Atlantoaxial instability
Leukemia

60%
60%80%
40%
15%
12%
12%20%
1%

8.12. Characteristic Findings of Trisomy 18 (Edwards Syndrome)

Intrauterine growth restriction.

High forehead.
Small face and mouth.
Rocker bottom feet.
Overlapping fingers.
Structural heart defects (90%); most often a VSD with multiple dysplastic
valves.
40% dying by 1 year of age (most die due to central apnea).
Mental retardation.
Microcephaly.

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Pediatric Spots

Short sternum.
Clubfoot /clinched fist.
Hypoplastic nails.
50% of affected children die in the 1st week of life.
Those who survive past 1 year of age typically function on a 612-monthold level.

8.13. Common Clinical Findings of Trisomy 13 (Patau Syndrome)

(Think of Midline Defects)

Orofacial cleft
Microphthalmia
Postaxial polydactyly of the limbs
Holoprosencephaly
Heart malformations (80%)
Hypoplastic or absent ribs
Genital anomalies
Abdominal wall defects
Cutis aplasia.

8.14. Turner Syndrome45, X

8.14.1. Common clinical findings of Turner syndrome45, X

Short female with broad chest

Wide-spaced nipples
Webbed neck
Congenital lymphedema
Pubertal delay
Left-sided heart defects.

8.14.2. Associated findings with Turner syndrome45, X

Associated findings

Percentage

Gonadal dysgenesis

90%

Renal anomalies

60%

Hearing loss

50%

Cardiac defects

10%30%

Genetics

115

8.15. Common Clinical Findings of Fragile X Syndrome

Boys: Prevalence: 1 in 1,2502,500 males
Phenotype most prominent in boys
Mild to profound mental retardation
Cluttered speech
Autism (60%)
Macrocephaly
Large ears
Prognathism
Postpubertal macro-orchidism
Tall stature
Girls:

Prevalence: 1 in 1,6005,000 females

May have only learning disabilities

8.16. Common Clinical Findings of Klinefelter Syndrome47, XXY

Prevalence: 1 in 500 males
Mean full scale IQ 8590
Behavior problems
Low upper to lower body ratio
Small testes
Inadequate testosterone production
Infertility
Gynecomastia
Increased risk of extragonadal germ cell tumors.

8.17. Indications for Karyotype

1. Two major or one major and two minor malformations (include: small for
gestational age and mental retardation as major).
2. Features of a specific chromosomal syndrome.
3. At risk for familial chromosomal aberration.
4. Ambiguous genitalia.
5. More than two spontaneous abortions or infertility (karyotype both
partners).
6. Girls with short stature.

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Pediatric Spots

Bibliography

1. http://110.164.68.234/infotech/files/Genetics
2. http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns
3. http://hihg.med.miami.edu
4. http://www.geneticseducation.nhs.uk/genetics-glossary/212-mitochondrialinheritance
5. http://www.nhs.uk/Conditions/Downs-syndrome/Pages/Symptoms.aspx
6. https://migrc.org/Library/Ylinked.html

CHAPTER

Growth and Development

9.1. Predicting Midparental Height in Children
Midparental height in girls:
(fathers height 13 cm) + (mothers height)
2
Midparental height in boys:
(mothers height + 13 cm) + (fathers height)
2

9.2. Quick Pearls to Remember about Growth

9.2.1. Birth weight
Regained by 1014 days of life
Doubles by 4 months
Triples by 12 months
Quadruples by 24 months.
After 2 years of age, normal weight gain is 5 lb/year until adolescence.

9.2.2. Birth length

Increases by 50% at 1 year
Doubles by 4 years
Triples by 13 years.
After 2 years of age, average height increase is 2/year until adolescence.

9.2.3. Head growth

The largest rate of growth is between 0 and 2 months (0.5 cm/week).

9.3. Definitions of Failure to Thrive (FTT)

9.3.1. One point on the growth curve
Weight:
<3rd percentile

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Pediatric Spots

For height <5th percentile

20% or more below ideal weight for height.

9.3.2. A series of points on the growth curve

Weight:
Gain <20 gm/day from 03 months of age
Gain <15 gm/day from 36 months of age
Downward crossing of 2 major percentiles.

9.4. Developmental Milestones

9.4.1. Reflexes
Moro

Absent by 34 months

Palmar grasp

Absent by 23 months

Parachute

Present by 69 months

9.4.2. Head control

When lying down:
Lifts head momentarily

1 month

Head upto 45 degrees

2 months

Head upto 90 degrees

34 months

When pull to sitting:

Complete head lag

Newborn

No head lag

5 months

Lifts head off table in

anticipation of being lifted

6 months

9.4.3. Rolling and sitting

Rolling:
Rolls front to back

45 months

Rolls back to front

56 months

Sitting:
Sits without support

7 months

Growth and Development

9.4.4. Hands/Fingers
Voluntary grasp (no release)

5 months

Transfers objects between hands

6 months

Uses thumb to grasp cube

68 months

Mature cube grasp

(finger and distal thumb)

1012 months

Plays pat-a-cake

910 months

Tower of 2 cubes

1315 months

Tower of 4 cubes

18 months

Uses cup and spoon well

1518 months

9.4.5. Ambulating
Walking:
Pulls to stand
Walks holding onto furniture
Walks without help
Walks well
Runs well
Stairs:
Up and downstairs, 2 feet each step
Up and downstairs, 1 foot per step each way
Jumps:
Jumps off ground with 2 feet up
Hops on 1 foot
Skips
Balances on one foot 23 seconds
Balances on one foot 610 seconds

9 months
11 months
13 months
15 months
2 years
2 years
4 years
2.5 years
4 years
56 years
3 years
4 years

9.4.6. Social
Social smile
Smiles at mirror
Separation anxiety
Waves bye-bye
Dresses self (except buttons in back)
Ties shoe laces
Parallel play
Cooperative play
Can tell fantasy from reality

12 months
5 months
612 months
10 months
2 years
5 years
12 years
34 years
5 years

119

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Pediatric Spots

9.4.7. Speech and language

Coos
First words
Understands 1-step commands
Vocabulary of 1015 words
2-words sentences
3-words sentences
4-words sentences

24 months
912 months
15 months
1318 months
1824 months
23 years
34 years

9.5. Tooth Development

Teeth

Erupt

Fall out

Central incisors

612 months

610 years

Lateral incisors

716 months

78 years

Canines or cuspids

1623 months

911 years

First molars

1219 months

911 years

Second molars

2033 months

1012 years

9.6. Routine Childhood Immunization Administration

9.6.1.
All routine childhood immunizations are IM (intramuscular) except for:
3 SubQ (subcutaneous):
1. MMR
2. Varicella
3. IPV.
1 oral: Rotavirus.

9.6.2. Live vaccines include

1. MMR
2. Varicella
3. Rotavirus
4. OPV
5. Oral typhoid (rarely given, except for travel)
6. Yellow fever (rarely given, except for travel).

9.6.3. OPV
OPV is contraindicated in both an immunocompromised household and patient.

Growth and Development

121

9.6.4. Anaphylactic reaction associated with special vaccines

If a patient has had an anaphylactic reaction to one of the following, perform
skin testing to determine safety of the corresponding vaccine.
Egg antigens: Influenza and yellow fever
Streptomycin, neomycin, polymyxin B:IPV and OPV
Neomycin: MMR and varicella
Gelatin: MMR, varicella and yellow fever.

9.6.5. Facts about vaccination

9.6.5.1.
There is no contraindication to vaccinating someone with severe egg allergy
with MMR or its components.

9.6.5.2.
Vaccinate those children with functional/anatomical asplenia (patients with
sickle cell, hemoglobinopathy or AIDS), with Hib vaccine, regardless of age
(even > 5 years).

9.6.5.3.
If the mother is HBsAg+ or her status in unknown give hepatitis B vaccine
at birth or within 12 hours.
If mother is HBsAg+, also give HBIG (hepatitis B immune globin) within 12
hours of delivery at a different site.

9.7. Screening Scheme for Development Delay Upper Range

Age
Gross motor
(Month)
3
Supports
weight on
forearms
6
Sits
momentarily
9
Pulls to stand
12
18
24

Walks with
one hand
held
Walks
upstairs with
assistance
Runs

Fine motor

Social skills

Language

Opens hands
spontaneously

Smiles
appropriately

Coos and
laughs

Transfers objects

Shows likes and

dislikes
Play Pat-a-cake,
Peek-a-boo
Comes when
called

Babbles

Pincer grasp
Releases
an object on
command
Feeds from a
spoon
Built a tower of
6 blocks

Mimics action of
others
Plays with others

Initiates
sounds
12
meaningful
words
At least 6
words
23 words
sentence

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Pediatric Spots

9.8. Expressive Language Development

6 months
12 months

18 months

24 months

3 years

4 years

Babbles
Different cries noted
Points
Shakes head
Mama or Dada
Uses gestures well
Has about a 1520 words vocabulary
Uses 23 word phrases
Speaks in a way that immediate household family members can
understand
Expanding vocabulary
More fluency-less stuttering
About 25% of words are intelligible to strangers
Can use complete sentences
Talks in short paragraphs
Most words are intelligible to strangers
Uses plurals, pronouns and prepositions
Can use past tense
45 word sentences
Short paragraphs
Able to tell a story or explain a recent event

9.9. Clues to Abnormal Speech and Language Development by Age

1215 months

Is not babbling or using different sounds

1824 months

Uses only a few words, hardly any phrase

2 years

Cannot follow simple directions

Points instead of speaking
Is not using 2-syllable words or combining words

2 years

Cannot be understood most of the time

Frequently omits first or last consonant of a word
Cannot understand 2-step directions
Cannot pronounce: b, h, m, n, p ,w

3 years

Cannot repeat a 4- or 5-word sentence

3 years

Cannot name specific objects easily

Omits words in sentences
Cannot pronounce: d, f, g, k, t

4 years

Cannot tell a simple story

5 years

Cannot pronounce :1, j, v, ch, sh

6 years

Cannot pronounce: r, s, z, st, th

Growth and Development

123

9.10. Factors Associated with Hearing Loss in Neonates

1.
2.
3.
4.
5.
6.
7.
8.
9.

Family history of sensorineural hearing loss.

Congenital infection.
Presence of craniofacial anomalies.
Birth weight is below 1,500 gm.
Neonatal jaundice resulting in exchange transfusion.
Ototoxic medications (furosemide and aminoglycosides).
Bacterial meningitis.
Apgar scores of 3 or less at 5 minutes.
Physical findings consistent with a syndrome associated with hearing
loss.

9.11. Behaviors Suggestive of ADHD

1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.

Inattentive behaviors
Easily distracted by extraneous stimuli
Makes careless mistakes in school/work or other activities
Has difficulty maintaining attention to task
Does not seem to listen to what is being said to them
Fails to finish schoolwork and chores or other duties
Loses things necessary for tasks or activities
Has difficulty organizing tasks and activities
Forgetful in daily activities
Hyperactive/impulsive behaviors
Runs about or climbs excessively in inappropriate situation
Fidgets with hands or feet or squirms
Has difficulty awaiting turn in games or groups
Blurts out answers to questions.

9.12. Suggested Metabolic Syndrome Indices in

Children and Adolescents
1.
2.
3.
4.
5.

BMI: >97th percentile

Triglycerides: >100 mg/dL
HDL cholesterol: <40 mg/dL
Systolic/diastolic BP: >90th percentile
Glucose abnormalities:
Fasting glucose >110 mg/dL or
Oral glucose tolerance test >14 mg/dL.
6. Waist circumference: > 90th percentile.

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Pediatric Spots

9.13. Grasping and Handedness: Facts

1. Voluntary, accurate release is as essential as grasping for later manipulative
skills.
2. Handedness (which hand is dominant) is clear in many children by 24
months and is expected in the majority by 42 months.
3. Delayed development of which hand is dominant is frequently associated
with specific as well as general learning difficulties.

Fig. 9.1: Grasping and handedness

9.14. Social Learning, Self and Others, Play and

Adaptive Skills Include
1. The childs social reactions to other persons and to peers through the
development of attachments and social understanding.
2. Development of self-awareness and self-regulation.
3. Mastery of skills such as feeding, elimination and dressing.

Growth and Development

125

9.15. Constructional and Drawing Skills

Fig. 9.2: Constructional and drawing skills

9.16. Importance of Skill Delays

Delays in some areas of development are more important for long-term
learning than others:
1. Developmental delay in motor skills only is of much less long-term
significance than persistent significant delays in language and cognitive
skills.
2. Self-help competence, for example toilet training, feeding and dressing,
can also be dissociated from the level of general learning.
3. Some skills (e.g. symbolic play and language) reflect understanding of the
environment and are therefore better indicators of intellectual ability.
4. Make allowance for prematurity less than 12 months.

9.17. The Differential Diagnosis of Delay in Motor Milestones

1. Normal variant, e.g. shuffler, roller, asymmetrical head turner, toe walker
- ask about family history; shuffling and other patterns may have a genetic
predisposition.
2. Global delay/general learning difficulties/mental retardation.
3. Cerebral palsy/other neurological disorder.
4. Early presentation of developmental coordination problemsHypotonia
and delay.
5. Connective tissue disorder.

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Pediatric Spots

9.18. Specific Neurodevelopmental Impairments Include

1. Specific developmental disorders of speech and language.
2. Specific developmental disorders of acquired academic skills, for example
reading, spelling and mathematics.
3. Specific developmental disorders of motor function (developmental coordination disorderClumsy child).
4. Autistic spectrum disorders (also called the pervasive developmental
disorders).
5. Specific impairments of memory (short or long-term episodic or
declarative) and learning.
6. Specific developmental impairments of attention.
7. Specific developmental impairment of executive function.

9.19. Classification of Sexual Maturity States in Girls

SMR
stage

Pubic hair

Breast

Preadolescent

Preadolescent

Sparse, lightly pigmented,

straight and medial border of
labia

Breast and papilla elevated as

small mound; diameter of areola
increased

Darker, beginning to curl and

increased amount

Breast and areola enlarged, no

contour separation

Coarse, curly and abundant but Areola and papilla form secondary
less than in adult
mound

Adult feminine triangle and spread Mature, nipple projects and areola
to medial surface of thighs
part of general breast contour

Fig. 9.3: SMR in girls

Growth and Development

127

Fig. 9.4: Sequence of pubertal events in females

9.20. Classification of Sexual Maturity States in Boys

SMR
stage

Pubic hair

Penis

Testes

None

Preadolescent

Preadolescent

Scanty, long and

slightly pigmented

Minimal change/
enlargement

Enlarged scrotum pink,

and texture altered

Darker, starting to curl

and small amount

Lengthens

Larger

Resembles adult type,

but less quantity;
coarse and curly

Larger; glans
and breadth
increase in size

Larger and scrotum dark

Adult distribution and

spread to medial
surface of thighs

Adult size

Adult size

Fig. 9.5: SMR in boys

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Pediatric Spots

Fig. 9.6: Sequence of pubertal events in males

Bibliography

1. http://www.aafp.org/afp/2011/0401/p829.html
2. http://www.cdc.gov/ncbddd/actearly/milestones/index.html
3. http://www.cdc.gov/vaccines/recs/vac-admin
4. http://www.med.umich.edu/1libr/pa/umsound_riskfactors.htm
5. http://www.speech-language-therapy.com
6. http://www.unicef.org/earlychildhood/files/Activity_Guide.pdf
7. http://www.who.int/ceh/capacity/neurodevelopmental.pdf
8. www.mja.com.au

CHAPTER

10

Hematology
10.1. Anemia Mechanism Summary
10.1.1. Proliferation defect (production)
Reticulocyte count Morphology Etiology

Examples

Decreased

1. Decreased
erythropoietin

1. Chronic kidney
disease

2. Bone marrow
failure

2. Aplastic anemia

Normal

10.1.2. Maturation Defect

10.1.2.1. Cytoplasmic maturation defect
Reticulocyte count Morphology

Etiology

Examples

Decreased

1. Impaired Hgb
synthesis

1. Fe deficiency

2. Protoporphyrin
deficiency

2. Sideroblastic
anemia

3. Globin synthesis
deficiency

3. Thalassemias

Hypochromic,
microcytic

10.1.2.2. Nuclear maturation defect

Reticulocyte count Morphology

Etiology

Examples

Decreased

DNA synthesis
defects

B12, folate
deficiencies

Megaloblastic

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Pediatric Spots

10.1.3. Survival defect

10.1.3.1. Intrinsic (inherited)
Reticulocyte Morphology Etiology
count

Examples

Increased

1. Membrane
cytoskeleton protein

1. Spherocytosis,
elliptocytosis

2. Metabolic enzymes

2. G6PD deficiency

Specific
changes

3. Hemoglobinopathies 3. SS disease, HbC,

D, E

10.1.3.2. Extrinsic (acquired)

Reticulocyte count Morphology
Increased

Etiology

Specific
changes

Examples
Autoimmune hemolysis,
malaria, DIC and vascular
hemolysis

10.2. The Peripheral SmearSignificance of Specific Changes

10.2.1. RBC fragments (schistocytes)
Seen in:
Microangiopathic hemolytic anemia (TTP, HUS, HEELP and DIC)
Severe burns
Valve hemolysis.

Fig. 10.1: Schistocytes

Hematology

10.2.2. Spherocytosis
Seen in:
Autoimmune hemolytic anemia
Hereditary spherocytosis.

Fig. 10.2: Spherocyte

10.2.3. Target cells

Seen in:
Alcoholic or other significant liver disease
Thalassemia and other hemoglobinopathies (HbC).

Fig. 10.3: Target cell

131

132

Pediatric Spots

10.2.4. Sideroblasts
Seen in:
Alcoholic
Myelodysplasia

Fig. 10.4: Sideroblast

10.2.5. Teardrop cells

Seen in:
Myelofibrosis/myeloid metaplasia
Thalassemia.

Fig. 10.5: Teardrop cell

10.2.6. Burr cells (echinocytes)

Seen in:
Uremic patient.

Fig. 10.6: Burr cell (echinocyte)

Hematology

10.2.7. Spur cells (acanthocytes)

Seen in:
Liver disease.

Fig. 10.7: Spur cell (acanthocyte)

10.2.8. Howell-Jolly bodies

Seen in:
Splenectomy
Functional asplenia.

Fig. 10.8: Howell-Jolly body

10.2.9. Hypersigmented PMNs

Seen in:
Megaloblastic anemia:
Pernicious anemia
B12 deficiency
Folate deficiency.

Fig. 10.9: Hypersigmented PMNs

133

134

Pediatric Spots

10.2.10. Some other RBCs shapes

Fig. 10.10: Various RBCs shapes

10.3. Anemia due to Iron Deficiency vs. Anemia of Chronic

Inflammatory Disease (ACD)
Fe deficiency

ACD

Fe

Low

Low

TIBC

High

Low

Transferrin saturation

Low

Low to normal

Ferritin

Low

Normal to high

10.4. Lab Results of Bleeding Disorders

1. Elevated PT and PTT

Factor deficiency from common

pathway; multiple factor deficiency

2. Elevated PT normal PTT

Factor VII deficiency

3. Elevated PTT normal PTCorrected

by addition of plasma

Factor VIII, IX, or XII deficiency

4. Elevated PTT normal PTNot

corrected by addition of plasma

Inhibitor syndrome (circulating

anticoagulant)

5. Elevated PTT normal PTBut no

clinical bleeding disorder

Factor XII deficiency

6. Normal except elevated bleeding time Platelet problem

i. Elevated bleeding time with
normal platelet aggregation

von Willebrand disease

ii. Elevated bleeding time with

abnormal platelet aggregation
and decreased platelet count

Bernard-Soulier (giant platelet)

syndrome

iii. Elevated bleeding time with

abnormal platelet aggregation

Glanzmann thrombasthenia

Hematology

135

10.5. Lab Results in DIC

PT and PTT prolonged

Thrombocytopenia
Fibrinogen decreased
D-dimer increased
Increased thrombin time
RBC fragments (schistocytes).

10.6. Use of the Mean Corpuscular Volume (MCV) and Reticulocyte

Count in the Diagnosis of Anemia
Microcytic
Reticulocyte count

Low/inadequate

High

Iron deficiency

Thalassemia syndrome

Thalassemia trait

Hemoglobin C and E disorders

Chronic disease/inflammation

Pyropoikilocytosis

Lead poisoning
Sideroblastic anemia
Copper deficiency

Normocytic
Reticulocyte count

Low/inadequate

High

Chronic disease/inflammation

Antibody-mediated hemolysis

RBC aplasia (TEC, infection, drugs)

Hypersplenism

Malignancy

Microagiopathy (HUS, TTP and DIC)

Endocrinopathies

Membranopathies (spherocytosis,
elliptocytosis and ovalocytosis)

Renal failure

Enzymopathies (G6PD and PK

deficiencies)

Acute bleeding

Hemangiopathies (HbSS and SC)

Hypersplenism
Dyserythropoietic anemia II
Hemophagocytic syndrome

136

Pediatric Spots
Macrocytic
Reticulocyte count

Low/inadequate
Folate deficiency
Vitamin B12 deficiency

High
Dyserythropoietic anemia I and III
Active hemolysis with very high
reticulocyte count

Acquired aplastic anemia

Congenital aplastic anemia
(Diamond-Blackfan, Fanconi anemia,
Pearson syndrome)
Drug-induced
Trisomy 21
Hypothyroidism
Orotic aciduria

10.7. Hematology and Laboratory Features of Congenital

Dyserythropoietic Anemia
Test
Blood smear

Hgb (g/dL)
MCV
RDW
Reticulocyte
Bilirubin (total,
mg/dL)
LDH
Haptoglobin
Ferritin (g/L)
Ham (acid seralysis) test
Anti-i antigen
hemagglutination
Serum thymidine
kinase
SDS-PAGE
Hemosiderinuria

CDA 1
Anisopoikilocytosis
Basophilic stippling
Occasional
circulating mature
erythroblast
6.511.5
(mean = 9.5)
(70% cases)

Suboptimal
response
(indirect)

N/A
(in 60% =
10001500)
Negative

CDA 2
Anisopoikilocytosis
Basophilic stippling
Occasional
circulating mature
erythroblast
912
(mean = 11)
Normal or
minimum

CDA 3
Anisopoikilocytosis
Basophilic
stippling
814
(mean = 12)
Normal or
minimum

N/A

(28)

Normal or
minimum

or absent
(>50% >1000 by
N
age 50 years)
Positive
Negative

Normal to strong

Strong

Normal to
strong

Normal

Abnormal migration of band-3

N/A

Normal

N/A

+++

Hematology

137

10.8. Laboratory Studies Differentiating the Most Common

Microcytic Anemias
Study

Iron deficiency
anemia

or

thalassemia

Anemia of
chronic disease

Hemoglobin

Decreased

Decreased

Decreased

RDW

Increased

Normal

Normal-increased

RBC

Decreased

Normal-increased

Normal-decreased

Serum ferritin

Decreased

Normal

Increased

Total Fe binding Increased

capacity

Normal

Decreased

Transferrin
saturation

Decreased

Normal

Decreased

FEP

Increased

Normal

Increased

Transferrin
receptor

Increased

Normal

Increased

Reticulocyte
hemoglobin
concentration

Decreased

Normal

Normal-decreased

10.9. Selected Cutoff Values to Define Iron Deficiency Anemia

Indicator

Selected cutoff values to define iron

deficiency

Hemoglobin (g/L)

6 month5 year <110, 611 year <115

Mean corpuscular volume (MCV)

(m3)

Children older than 11 year and adults <82

Reticulocyte hemoglobin content

(CHr) (pg.)

In infants and young children <27.5

Erythrocyte zinc protoporphyrin

(ZPP) (mol/mol heme)

5 year >70, children >5 year >80

children >5 year on washed red cells >40

Transferrin saturation

<16%

Serum ferritin (SF) (g/L)

5 year <12, children >5 year <15

In all age groups in the presence of
infection <30

Serum transferrin receptor (sTfR)

Cutoff varies with assay and with patient's

age and ethnic origin

138

Pediatric Spots

10.10. Possible Complications of Blood Transfusions

The complications can be broadly classified into two categories:
A. Immune complications
1. Hemolytic complications
a. Acute hemolytic reactions:
i. Usually due to ABO blood
type incompatibility

2. Nonhemolytic complications
i. Due to sensitization of the
recipient to donor white cells,
platelets or plasma proteins

ii. Human error plays

a large part in these
reactions
b. Delayed hemolytic reactions:
i. Generally mild in
comparison
ii. Caused by antibodies
to non-D antigens of the
Rh system or to foreign
alleles in other systems
such as the Kell, Duffy or
Kidd antigens

ii. These reactions include:

Febrile
Urticarial
Anaphylactic
Pulmonary edema (noncardiogenic)
Graft vs host
Purpura
Immune suppression

B. Nonimmune complications
The nonimmune complications can also be classified into two broad categories:
a. Complications associated with
massive blood transfusion

Coagulopathy
Citrate toxicity
Hypothermia
Acid-base disturbances
Changes in serum potassium
concentration

b. Infectious complications
Hepatitis
AIDS
Other viral agents (CMV, EBV,
HTLV)
Parasites and bacteria

10.11. Inherited Causes of Lymphocytopenia

Aplasia of lymphopoietic stem cells

Severe combined immunodeficiency
Ataxia-telangiectasia
Wiskott-Aldrich syndrome
Immunodeficiency with thymoma
Cartilage-hair hypoplasia
Idiopathic CD4 T lymphocytopenia.

Hematology

10.12. Causes of Red Cell Fragmentation Syndromes

Microangiopathic:
i. Hemolytic uremic syndrome
ii. Thrombotic thrombocytopenic purpura
iii. Meningococcal sepsis
iv. Disseminated intravascular coagulation.
Cardiac valves or arterial grafts
March hemoglobinuria
InfectionsMalaria and clostridia
Chemical and physical burns
Liver and renal disease.

10.13. Causes of a Raised Platelet Count (Thrombocytosis)

In children nearly always reactive or secondary:
i. Infection
ii. Iron deficiency
iii. Postoperative
iv. Inflammation
v. Malignancy
vi. Hemorrhage.
Primary disease of the marrow is very rare.

10.14. Causes of Thrombocytopenia

Decreased production:
CongenitalRare
Acquired.
Increased destruction:
Immune (common).
Nonimmune:

Disseminated intravascular coagulation

Hemolytic uremic syndrome and its variants
Hypersplenism.

10.15. Causes of Immune Thrombocytopenia

Idiopathic autoimmune (ITP or AITP):
Acute (8090% in children)
Chronic (i.e. > 6 months duration).
Alloantibodies:
Neonatal (NAIT)
Post-transfusion purpura

139

140

Pediatric Spots

Drug-induced.
Disease-associated:
For example
i. Systemic lupus erythematosus
ii. Immunodeficiency
iii. Some infections.

10.16. Hemophilia A and BLevel of Clotting Factor Related to

Clinical Features
Level of clotting
factor (% of normal)

Clinical features

<1%

Severe disease
Spontaneous bleeding into joints and muscles

15%

Moderate disease
Bleeding after trauma
Occasional spontaneous bleeding

540%

Mild disease
Bleeding after trauma

10.17. Complications Associated with Sickle Cell Trait

Renal medullary cancer Splenic infarction
Hematuria

Exertional rhabdomyolysis

Renal papillary necrosis Exercise-related sudden death

Hyposthenuria

Protection against severe falciparum malaria

Bibliography
1. http://emedicine.medscape.com/article/202333-overview
2. http://my.clevelandclinic.org/disorders/immune_thrombocytopenic_
purpura_itp
3. http://www.cdc.gov/ncbddd/hemophilia/facts.html
4. http://www.haematologica.org/content/95/6/1034.full
5. http://www.idph.state.il.us/HealthWellness/sicklecell.htm
6. http://www.ihaematology.com/general-haematology/laboratory-haematology
7. http://www.wheelessonline.com/ortho/12795

CHAPTER

11

Infectious Diseases
11.1. Diagnostic Criteria of Staphylococcal Toxic Shock Syndrome
Major criteria (all required)
i. Acute fever; temperature >38.8C.
ii. Hypotension (orthostatic and shock; below ageAppropriate norms).
iii. Rash (erythroderma with convalescent desquamation).
Minor criteria (any 3 or more)
i. Mucous membrane inflammation (vaginal, oropharyngeal or
conjunctival hyperemia, and strawberry tongue).
ii. Vomiting and diarrhea.
iii. Liver abnormalities (bilirubin or transaminase greater than twice
upper limit of normal).
iv. Renal abnormalities (urea nitrogen or creatinine greater than twice
upper limit of normal, or greater than 5 white blood cells per high
power field).
v. Muscle abnormalities (myalgia or creatinine phosphokinase greater
than twice upper limit of normal).
vi. Central nervous system abnormalities (alteration in consciousness
without focal neurological signs).
vii. Thrombocytopenia (100,000/mm3 or less).
Exclusionary criteria
i. Absence of another explanation.
ii. Negative blood cultures (except occasionally for Staphylococcus
aureus).

11.2. Diphtheria

Figs 11.1A and B: Diphtheria. A: Tonsillar diphtheria and B: Bull-neck appearance

of diphtheritic cervical lymphadenopathy

142

Pediatric Spots

11.3. Late Manifestations of Congenital Syphilis

Symptoms/signs

Description

Olympian brow

Bony prominence of the forehead due to persistent or

recurrent periostitis

Clavicular or
Higoumnaki sign

Unilateral or bilateral thickening of the sternoclavicular

third of the clavicle

Saber shins

Anterior bowing of the midportion of the tibia

Scaphoid scapula

Convexity along the medial border of the scapula

Hutchinson teeth

Peg-shaped upper central incisors; they erupt during

6 years of life with abnormal enamel, resulting in a
notch along the biting surface

Mulberry molars

Abnormal 1st lower (6 years) molars characterized by

small biting surface and excessive number of cusps

Saddle nose

Depression of the nasal root, a result of syphilitic

rhinitis destroying adjacent bone and cartilage

Rhagades

Linear scars that extend in a spoke-like pattern from

previous mucocutaneous fissures of the mouth, anus
and genitalia

Juvenile paresis

Latent meningovascular infection; it is rare and

typically occurs during adolescence with behavioral
changes, focal seizures, or loss of intellectual function

Juvenile tabes

Rare spinal cord involvement and cardiovascular

involvement with aortitis

Hutchinson triad

Hutchinson teeth, interstitial keratitis, and eighth

nerve deafness

Clutton joint

Unilateral or bilateral painless joint swelling (usually

involving knees) due to synovitis with sterile synovial
fluid; spontaneous remission usually occurs after
several week

Interstitial keratitis

Manifests with intense photophobia and lacrimation,

followed within weeks or months by corneal opacification and complete blindness

Eighth nerve deafness

May be unilateral or bilateral, appears at any age,

manifests initially as vertigo and high-tone hearing
loss, and progresses to permanent deafness

Infectious Diseases

143

144

Pediatric Spots

Figs 11.2A to H: Various signs of congenital syphilis: (A) Clavicular or Higoumnakis sign,
(B) Hutchinson teeth, (C) Saber shins, (D) Saddle nose, (E) Mulberry molars,
(F) Rhagades, (G) Clutton joint and (H) Interstitial keratitis

11.4. Definition of Streptococcal Toxic Shock Syndrome

Clinical criteria
Hypotension plus 2 or more of the following:
Renal impairment
Coagulopathy
Hepatic impairment
Generalized erythematous macular rash
Soft tissue necrosis.
Definite case
Clinical criteria plus group A streptococcus from a normally sterile site.
Probable case
Clinical criteria plus group A streptococcus from a nonsterile site.

11.5. Children At High-risk of Invasive Pneumococcal Infection

Children with:
Sickle cell disease congenital or acquired asplenia or splenic dysfunction.
Human immunodeficiency virus infection.
Cochlear implants.

Infectious Diseases

145

11.6. Scarlet Fever

Figs 11.3A to C: Scarlet fever: A: Punctate, erythematous rash (2nd day), B: White
strawberry tongue (1st day) and C: Red strawberry tongue (3rd day)

Scarlet fever
It is an upper respiratory tract infection associated with a characteristic
rash, which is caused by an infection with pyrogenic exotoxin (erythrogenic
toxin)-producing Group A streptococcus (GAS) in individuals who do not
have antitoxin antibodies.
The milder form with equivocal pharyngeal findings can be confused
with:

i. Viral exanthems

ii. Kawasaki disease
iii. Drug eruptions.

11.7. Pathophysiologic Events in Postnatally Acquired Rubella

Virus Infection

Fig. 11.4: Rubella; graph of pathophysiologic events

146

Pediatric Spots

11.7.1. Complications of postnatally acquired rubella virus

infection
Possible complications include:
1. Arthralgia and/or arthritis
2. Thrombocytopenic purpura
3. Encephalitis.

11.8. Schematic Representation of the Development of Antibodies

to Various Epstein-Barr Virus Antigens in Patients with

Infectious Mononucleosis

Viral capsid antigen (VCA)

Fig. 11.5: Infectious mononucleosis; Epstein-Barr virus antigens

11.9. Pathophysiologic Events in Measles, Rubella, Scarlet Fever

and Roseola Infantum

Infectious Diseases

147

Figs 11.6A to D: Pathophysiologic events in A: measles, B: rubella,

C: scarlet fever and D: roseola infantum

11.10. Complications of Infectious Mononucleosis

1.

2.

3.

Respiratory complications:
Airway obstruction (drooling, stridor, and interference with breathing).
Subcapsular splenic hemorrhage or splenic rupture
(Most feared complication) (2nd week of illness).
Neurological complications:
i. Severe neurologic manifestations, such as seizures and ataxia, in
15% of cases.
ii. Alice in Wonderland syndrome (metamorphopsia) perceptual
distortions of sizes, shapes, and spatial relationships.
iii. Meningitis with nuchal rigidity and mononuclear cells in the
cerebrospinal fluid.

iv. Facial nerve palsy.

v. Transverse myelitis.
vi. Encephalitis.
4. Guillain-Barr syndrome or Reye syndrome may follow acute illness.
5. Hematological complications:

i. Hemolytic anemia, often with a positive Coombs test result and with
cold agglutinins specific for RBC i antigen
Occurs in 3% of cases
The onset is typically in the first 2 weeks of illness and lasts <1
month.
ii. Mild thrombocytopenia and neutropenia are common, severe
thrombocytopenia (<20,000 platelets/dL) or severe neutropenia
(<1,000 neutrophils/dL) is rare.
iii. Aplastic anemia is a rare complication that usually manifests 34
weeks after the onset of illness, usually with recovery in 48 days, but
some cases do require bone marrow transplantation.
6. Myocarditis or interstitial pneumonia may occur, and both resolve in 34
weeks.
7. Other rare complications are pancreatitis, parotitis and orchitis.

148

Pediatric Spots

11.11. Definition of Positive Tuberculin Skin Testing

Induration 5 mm
Children in close contact with known or suspected contagious cases of
tuberculosis.
Children suspected to have tuberculosis based on clinical or radiographic
findings.
Children on immunosuppressive therapy or with immunosuppressive
conditions (including HIV infection).
Induration 10 mm
Children at increased risk for dissemination based on young age (<4 years)
or with other medical conditions (cancer, diabetes mellitus, chronic renal
failure, or malnutrition).
Children with increased exposure: Those born in or whose parents were
born in endemic countries; those with travel to endemic countries; those
exposed to HIV-infected adults, homeless persons, illicit drug users.
Induration 15 mm
Children 4 years without any risk factors.

11.12. Clinical Features of Congenital Rubella, Cytomegalovirus

and Toxoplasmosis
Cytomegalovirus Rubella Toxoplasmosis
CNS
Hydrocephaly

+++

Microcephaly

+++

Calcification

+++

++

Deafness

++

+++

++

Encephalitis

Microphthalmia

+++

Cataracts

++

Chorioretinitis

+++

Intrauterine growth retardation

+++

Cardiac lesion

++

Purpuric rash

++

+++

Pneumonia

+++

++

++

Hepatosplenomegaly

++

+++

++++

Lymphadenopathy

Bony lesion

+++

Eyes

Infectious Diseases

149

11.13. Mechanisms of Bacterial Resistance to Antibiotics

Bacteria acquire resistance to antibiotics most commonly by one of three
main mechanisms
1. Inability to reach the site of action due to decreased cell wall permeability
or increased action of efflux pumps.
Examples of this type of mechanism occur in Pseudomonas spp. and
Enterobacteriaceae as a mechanism of resistance to aminoglycosides.
2. Alteration in the antimicrobial target.
An example is alteration in the penicillin-binding protein 2 in
staphylococci to PBP-2a encoded by the mec A gene, which renders all
-lactam antibiotics, including the penicillinase-resistant penicillins,
inactive, i.e. MRSA.
3. Production of an enzyme that inactivates the antibiotic.
Examples are -lactamases, which cleave the -lactam ring and render
these antibiotics inactive.

11.14. Recommendation of Usage of Pneumococcal Polysaccharide

Vaccines (PPV)
PPV is recommended as an additional strategy for children aged 2 years or
older in whom pneumococcal infection is likely to be more common and/or
dangerous
Asplenia or severe dysfunction of the spleen, e.g. homozygous sickle cell
disease and celiac syndrome.
Chronic renal disease or nephrotic syndrome.
Immunodeficiency or immunosuppression from disease or treatment
(including HIV infection).
Chronic heart, lung or liver disease.
Diabetes mellitus.
Cochlear implants.
History of invasive pneumococcal disease.
Presence of CSF shunt or other condition with risk of CSF leak.

11.15. Factors Associated with Mother-to-Child Transmission

(MTCT) of HIV
Without interventions, the rate of MTCT was 1520% in Europe
and 2540% in Africa.
Most MTCT occurs around the time of delivery.
Increased risk is associated with:
Late stage maternal disease
High maternal plasma viremia
Prolonged rupture of membranes

150

Pediatric Spots

Invasive obstetric procedures

Prematurity
Breastfeeding.

Bibliography
1. http://www.cdc.gov/tb/publications/factsheets/testing/skintesting.htm
2. http://www.cdc.gov/vaccines/vpd-vac/diphtheria
3. http://www.hopkinsmedicine.org/healthlibrary/conditions/infectious_
diseases/infectious_mononucleosis_
4. http://www.moleculartb.org/gb/pdf/transcriptions/11_YZhang.pdf
5. http://www.nc.cdc.gov/eid/article/1/3/pdfs/95-0301.pdf
6. http://www.who.int/ith/diseases/pneumococcal/en/index.html
7. http://www.who.int/reproductivehealth/topics/rtis/syphilis/en/

CHAPTER

12

Metabolic Disorders
12.1. Suspicion of Inborn Errors
Suspicion of inborn errors if encephalopathy occurs in neonates or young
infants or occurs suddenly without warning and progress rapidly.
Because of acute onset, it is usually not associated with focal neurologic
deficits.

12.1.1. Symptoms can include

Unexplained seizures
Coma
Lethargy
Hypertonia
Hypotonia.

12.1.2. Examples of the most common, associated diseases are

Maple syrup urine disease
Ornithine transcarbamoylase (OTC) deficiency
Propionic acidemia.
Most of these infants are normal at birth.

12.2. The Classical Galactosemia

(Deficiency of Galactose-1-Phosphate Uridyltransferase)
The infant cannot metabolize galactose -1-phosphate, and this accumu-lates
in the kidney, liver and brain.

12.2.1. The signs and symptoms of classic galactosemia include

12.2.1.1 Galactosemia include:
Jaundice
Hepatosplenomegaly
Hypoglycemia
Irritability
Cataracts
Cirrhosis
Mental retardation

Vomiting
Seizures
Lethargy
Poor weight gain
Vitreous hemorrhage
Ascites
Vomiting

152

Pediatric Spots

12.3. Friedreich Ataxia

12.3.1. Facts about Friedreich ataxia
AR
Mapped on chromosome 9
Occurs in about 1/50,000.

12.3.2. Symptoms include

Hypoactive or absent deep tendon reflexes

Ataxia
Corticospinal tract dysfunction
Impaired vibratory and proprioceptive function
Hypertrophic cardiomyopathy
Diabetes mellitus.

12.4. Recognition Pattern of Mucopolysaccharidosis

Manifestations
Mental deficiency
Coarse facial features
Corneal clouding
Visceromegaly
Short stature
Joint contractures
Dysostosis multiplex
Leukocyte inclusions
Mucopolysacchariduria

I-H
+
+
+
+
+
+
+
+
+

Mucopolysaccharidosis type
I-S
II
III
IV
VI

(+)
+
+

+
+

(+)
+
(+)
+
(+)

+
(+)
+

+
+
+
+

+
(+)
+
(+)
+
+
(+)
+
+

+
+
+
+
+
+

VII

+
+
+
+
+
+
+

I-HHurler disease; I-SScheie disease; IIHunter disease; IIISanfilippo disease;

IVMorquio disease; VIMaroteaux-Lamy; VIISly disease

12.5. Mucopolysaccharidosis Type I (Hurler Syndrome)

12.5.1. Facts about Hurler syndrome
MPS I is caused by mutations of the IUA gene on chromosome 4p16.3
encoding a-L-iduronidase.
An infant with Hurler syndrome appears normal at birth, but inguinal
hernias are often present.
Is a severe, progressive disorder with multiple organ and tissue involvement
that results in premature death, usually by 10 year of age.
Diagnosis is usually made between 6 and 24 months of age.

Metabolic Disorders

153

12.5.2. Common findings in Hurler syndrome

Hepatosplenomegaly

Prominent forehead

Coarse facial features

Joint stiffness

Corneal clouding

Short stature

Large tongue

Skeletal dysplasia

12.6. Mucopolysaccharidosis Type II (Hunter Syndrome)

12.6.1. Facts about Hunter syndrome
Due to defect in the gene that encodes for iduronate-2-sulfatase on
chromosome Xq2728.
Only males are affected.
In severely affected children, diagnosis is usually made by 2 years of age.

12.6.2. Common findings in Hunter syndrome

Learning difficulties (with challenging Nodular rash around the

behavior, ADD, or seizures)
scapulae and the extensor
surfaces is pathognomonic
(rare in children)
Middle ear diseases

Joint stiffness

Hernias

Hepatosplenomegaly

Coarse facial appearance

Diarrhea

12.7. Phenylketonuria (PKU)

AR disorder
Phenylalanine cannot be converted to tyrosine
The enzyme defect is phenylalanine hydroxylase (PAH).
The most common presentations in infant include:
Vomiting.
Irritability.
An eczematoid rash.
Peculiar odor-mousy, wolf-like or musty in character (due to the
phenylacetic acid in urine).
Nearly all are fair-haired and fair-skinned.

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12.8. Metabolic Screening

It is not recommended for asymptomatic children with idiopathic mental
retardation.
Consider metabolic screening if the following symptoms are present with
mental retardation:
Episodic vomiting or lethargy
Poor feeding
Poor growth
Seizures
Unusual odors
Loss of developmental skills
Sensory abnormality (specially retina)
Acquired skin disorders.

12.9. Some of the Most Common Reasons for Referral to a

Metabolic Clinic
Some of the most common reasons for referral to a metabolic clinic are:
Disorders detected by expanded newborn screening.
Suspected or confirmed lactic acidosis.
Suspected or confirmed metabolic neurological disorders; including
nonspecific developmental delay.
Metabolic bone diseases such as nutritional or hereditary rickets.
Failure to thrive.
Hypercholesterolemia.
Suspected porphyria.
Visceromegaly.

12.10. Disorders of Fatty Acid Metabolism

Disorders of fatty acid metabolism commonly present with one of three
phenotypes:
1. Sudden infant death.
2. Hypoketotic hypoglycemia in association with recurrent vomiting and
hepatic encephalopathy.
3. Recurrent rhabdomyolysis and myoglobinuria.

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12.11. Inborn Errors of Metabolism that Cause Elevated

Blood Lactate
Inborn errors of metabolism that cause elevated blood lactate include
disorders of:
Pyruvate metabolism and the Krebs cycle
Gluconeogenesis
Fatty acid oxidation
Mitochondrial function
Organic acid metabolism
Biotin metabolism
Glycogen storage diseases.

12.12. Flowchart for Differential Diagnosis of Hyperammonemia

(ASAArginosuccinic acid; CPSCarbamyl phosphate synthetase;

OTCOrnithine transcarbamylase; PCPyruvate carboxylase)

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Pediatric Spots

12.13. Flowchart for Evaluation of Metabolic Acidosis in the

Young Infant

(Fructose-1, 6-DP, fructose-1, 6-diphosphatase; GSD, glycogen storage disease;

L:P ratio, lactate to pyruvate ratio

12.14. Special Smell that Indicate the Inborn Error of

Metabolisms (IEMs)
The smell

The inborn error of metabolism

Musty or Mousy

PKU

Boiled cabbage

Tyrosinemia or hypermethioninemia

Maple Syrup

Maple syrup urine disease

Sweaty feet

Isovaleric acidemia or glutaric acidemia type II

Cat urine

Multiple carboxylase deficiencies (biotin deficiency)

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12.15. Quick References for Differential Diagnosis of Inborn Error

of Metabolism
Diagnosis Nonketotic
hyperglycemia

Ureacycle
defect

Labtest

1. Fatty
Organic Organic Organic 1. Glycogen
acid
acidemia acidemia acidemia
Storageoxidation
defects
defects
2. Amino
2. Organic
acidurias
acidemia
3. Carbohydrate metabolism
defect

Metabolic
acidosis
Ammonia

Glucose

12.16. Organic Acidemias

For example: Methylmalonic or propionic acidemia, multiple carboxylase
deficiency.
1. These are caused by abnormal metabolism of proteins, fats or
carbohydrates.
2. These are characterized by:

i. Marked metabolic acidosis with ketosis

ii. Often with elevated lactate
iii. Mild to moderate hyperammonemia.
3. Common signs include:
i. Vomiting

ii. Signs of encephalopathy
iii. Neutropenia and thrombocytopenia.

12.17. Fatty Acid Oxidation Defects

For example: Short, medium and long-chain acyl-CoA dehydrogenase
deficiencies (known as b-oxidation defects):
1. These are a distinct type of organic acid disorder, characterized by:

i. Hypoketotic hypoglycemia
ii. Hyperammonemia
iii. Cardiomyopathy.
2. It may present clinically with Reyes syndrome.

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Pediatric Spots

3. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is among

the most common of all IEMs and may account for 5% of SIDS cases.

12.18. Primary Lactic Acidosis

For example:
i. Pyruvate dehydrogenase
ii. Pyruvate carboxylase
iii. Cytochrome oxidase deficiencies.
Present with severe lactic acidosis.

12.19. Aminoacidopathies
For example:
i. Phenylketonuria

ii. Hereditary tyrosinemia
iii. Nonketotic hyperglycinemia
iv. Maple syrup urine disease [MSUD]

v. Homocystinuria .
1. May have similar presentation to the organic acidemias, but are a very
heterogeneous group of disorders.
2. Hereditary tyrosinemia can present in the neonate with a bleeding
diathesis due to liver disease, or later in infancy with a renal Fanconi
syndrome.
3. The severe form of nonketotic hyperglycinemia presents as unremitting
seizures with hypotonia and hiccoughs.
4. MSUD classically presents at the end of the first week of life with:

i. Feeding difficulties
ii. Lethargy
iii. Coma
iv. Seizures

v. Characteristic odor.

12.20. Urea Cycle Defects

For example:
i. Citrullinemia

ii. Ornithine transcarbamylase deficiency
iii. Arginosuccinic aciduria.
1. Result from the inability to detoxify nitrogen
2. Are characterized by:

i. Severe hyperammonemia

ii. Respiratory alkalosis
iii. Typical onset after 24 hours of age.

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12.21. Disorders of Carbohydrate Metabolism

For example:
i. Galactosemia

ii. Hereditary fructose intolerance
iii. Fructose 1,6-diphosphatase deficiency
iv. Glycogen storage diseases.
1. Are a heterogeneous group caused by

i. Inability to metabolize specific sugars

ii. Aberrant glycogen synthesis
iii. Disorders of gluconeogenesis.
2. They may manifest with:
i. Hypoglycemia
ii. Hepatosplenomegaly
iii. Lactic acidosis or ketosis.

12.22. Lysosomal Storage Disorders

For example:
i. Mucopolysaccharidosis
ii. Tay-Sachs
iii. Niemann-Pick disease
iv. Gauchers disease.
1. Are caused by accumulation of glycoproteins, glycolipids, or
glycosaminoglycans within lysosomes in various tissues.
2. They usually present later in infancy, not with a specific laboratory
abnormality, but with:
i. Organomegaly

ii. Facial coarseness
iii. Neurodegeneration
iv. Progressively degenerative course.

12.23. Peroxisomal Disorders

For example:

i. Zellweger syndrome

ii. Neonatal adrenoleukodystrophy.
1. Result from failure of the peroxisomal enzymes.
2. They may present with features similar to the lysosomal storage disorders.
3. Common features of Zellweger syndrome include:

i. Large fontanel
ii. Organomegaly
iii. Down-like facies
iv. Seizures

v. Chondrodysplasia punctata.

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Bibliography

1. http://emedicine.medscape.com/article/1150420-overview
2. http://ghr.nlm.nih.gov/condition/galactosemia
3. http://ghr.nlm.nih.gov/condition/phenylketonuria
4. http://pediatrics.aappublications.org/content/123/1/19
5. http://www.cdc.gov/newbornscreening
6. http://www.ucsfbenioffchildrens.org/pdf/manuals/53_Metabolism.pdf
7. http://www.ucsfbenioffchildrens.org/pdf/manuals/53_Metabolism.pdf
8. www.nccpeds.com/powerpoints/IEM_Ellefson.ppt

CHAPTER

13

Neonatology
13.1. Lethal Neonatal Dwarfism
13.1.1. Usually fatal

Achondrogenesis (different types)

Campomelic dysplasia
Chondrodysplasia punctata (rhizomelic form)
Dyssegmental dysplasia, Silverman-Handmaker type
Short rib polydactyly, Majewski type, Saldino-Noonan type
Homozygous achondroplasia
Hypophosphatasia (congenital form)
Osteopetrosis (congenital form)
Osteogenesis imperfecta, type II
Thanatophoric dysplasia.

13.1.2. Often fatal

Asphyxiating thoracic dystrophy (Jeune syndrome).

13.1.3. Occasionally fatal

Ellis-van Creveld syndrome

Diastrophic dysplasia
Metatropic dwarfism
Kniest dysplasia.

13.2. Usually Nonlethal Dwarfing Conditions

Recognizable at birth or within first new months of life.

13.2.1. Most common

Achondroplasia
Diastrophic dysplasia
Spondyloepiphyseal dysplasia congenita

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Pediatric Spots

Osteogenesis imperfecta (types I, III, and IV)

Ellis-van Creveld syndrome.

13.2.2. Less common

Chondrodysplasia punctata (some forms)

Kniest dysplasia (not severe congenital forms)
Metatropic dysplasia
Langer mesomelic dysplasia.

13.3. Incidence of Malformation and Degree of Maternal

Hyperglycemia Prior to Conception
Mothers should keep:
1. Fasting blood sugars at 60100 mg/dL.
2. Keep 1-hour postmeal values at 100140 mg/dL.
3. Before diabetic women become pregnant, they should have glycosylated hemoglobin (HbA1c) of < 6% and it should be maintained during
pregnancy.

13.4. Known Risk Factors for Prematurity Include

1. Placenta bleeding (placenta previa, abruptio placentae)
2. Bacterial vaginosis
3. Uterine abnormalities (bicornuate uterus, incompetent cervix)
4. Congenital abnormalities
5. Cocaine abuse
6. Polyhydramnios
7. Maternal chronic diseases
8. Group B streptococcus (GBS)
9. Premature rapture of membranes (PROM)
10. Sexually transmitted diseases (herpes and syphilis)
11. Chorioamnionitis
12. Periodontal diseases.

13.5. Independent Risk Factors for Increased Mortality

among Preterm Infants
Male sex

Persistent bradycardia at 5 minutes

5-minute Apgar < 4

Hypothermia

Lack of antenatal steroids

Intrauterine growth restriction (IUGR)

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13.6. Algorithm for Management of Baby Born to Mom with

Group B Streptococcus Infection (GBS) Prophylaxis

13.7. Apgar Score (After Virginia Apgar)

A: Activity (muscle tone)
P: Pulse (heart rate)
G: Grimace (reflex irritability)
A: Appearance (color)
R: Respiration.

13.7.1. Apgar score elements

Score

Heart rate

Absent

<100 beats/minute

>100 beats/minute

Respiration

Absent

Slow and irregular

Good and crying

Muscle tone

Limp

Some flexion

Active motion

Grimace

Cough, sneeze
and cry

Reflex irritability No response

Color

Blue and pale Body pink and blue limbs Completely pink

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Pediatric Spots

Reflex irritability is tested in response to a catheter placed in infants nose.

Scoring is done at 1 minute, 5 minutes.
Maximum score is 10.
Score at 15 minutes <3 has been associated with >50% mortality and >60%
permanent, severe neurologic sequelae in infant who survive.

13.8. The Used Endotracheal Tube (i.e. diameter) Based

on Body Weight
13.8.1. The size
<1.5 kg wt : 2.5 mm tube diameter
2.5 kg wt : 3 mm diameter
>2.5 kg wt : 3.5 mm diameter.

13.8.2. The length

1 kg wt
2 kg wt
3 kg wt
4 kg wt

: 7 cm tube length
: 8 cm tube length
: 9 cm tube length
: 10 cm tube length.

13.9. A White Pupillary Reflex is Abnormal, so Think of

1. Retinoblastoma
2. Retinal coloboma
3. Chorioretinitis
4. Retinopathy of prematurity.

Fig. 13.1: White pupillary reflex

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165

13.10. Prechtl States of Sleep and Wakefulness in the Newborn

State

Findings

Eyes closed, regular respiration and no movements

Eyes closed, irregular respiration and no gross movements

Eyes open and no gross movements

Eyes open, gross movements and no cry

Crying and eyes can be open or closed

13.11. Glucose Screening

Routine glucose screening is no longer recommended.

13.11.1. Screening should be directed toward those infants at risk

for pathologic hypoglycemia
Born to mother with diabetes

Low birth weight (<2,500 gm)

Large for gestational age (LGA)

Polycythemia (HCT > 70%)

Small for gestational age (SGA)

Hypothermia

Premature (< 37 weeks gestation)

Low APGAR scores (<5 at 1 minute)

Stress (sepsis, respiratory distress

and other abnormalities)

13.11.2. Screen if any of these clinical signs are noted

Tremors and irritability

Cyanosis, apnea and tachypnea

High-pitched cry

Poor suck

Lethargy and hypotonia

Jitteriness

Seizures

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Pediatric Spots

13.12. The Primitive Reflexes

1. Moro reflex:
Hold the baby up off the bed by its hands in abduction, lift its shoulders a
few inches off the bed and then release the babys hands
So: The normal response is for the baby to rapidly abduct and extend its
arms, followed by complete opening of the hands.
2. Finger grasp:
Insert your fingers in to the babys hands to get flexion of its fingers around
your fingers then lift the baby while he/she holds on to your fingers with
his/her palmar grasp.
3. Automatic walking (stepping reflex):
Hold the baby upright with its feet on the table/bed in a standing position,
then tilt the baby slightly forward
So: The baby should make a step forward.
4. Suckswallow reflex:
Place your finger in the babys mouth and note the strength and rhythm of
sucking and its synchrony with swallowing.

13.13. The Clinical Problems Associated with Small for

Gestational Age (SGA) at Birth
Asphyxia
Temperature instability
Glucose abnormalities (both
hypo- and hyper-)
Immune dysfunction

Metabolic abnormalities (both protein and lipid)

Neurodevelopmental abnormalities
PolycythemiaHyperviscosity

13.14. Complications of Diabetes in Pregnancy on the

Fetuses and Infants
Infants of mothers with gestational diabetes only (onset only in pregnancy)
are at increased risk for all of the followings except for congenital abnormalities and future obesity/diabetes:
Sudden fetal death in the 3rd trimester

Cardiomyopathy

Macrosomia

Congenital heart disease

Increased rate of C-section

Septal defects

IUGR

Transposition of great arteries

Hypoglycemia

Truncus arteriosus

Hypocalcemia

Coarctation

Hypomagnesemia

Unconjugated hyperbilirubinemia

Polycythemia

Small left-colon syndrome

Renal anomalies

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167

13.15. The Risk of Developing Respiratory Distress Syndrome

(RDS) Hyaline Membrane Disease (HMD) is
13.15.1. The risk increased by the following factors

Premature birth
Male gender
Hypothermia
Fetal distress/asphyxia
Caucasian race
C-section
Diabetic mother
Second-born twin
Family history of HMD.

13.15.2. Reduced by the following factors

Maternal hypertension
Premature rapture of membranes
Subacute placental abruption
Maternal use of narcotics.

13.16. Persistent Pulmonary Hypertension of the Newborn

(PPHN)The Most Commonly Identified Etiologies
1. Meconium aspiration
2. Pulmonary infections
3. HMD
4. Sepsis
5. Pulmonary hypoplasia
6. Hyperviscosity/polycythemia
7. Hypoglycemia
8. Hypothermia.

13.17. Do Not Use Indomethacin in Treatment of Patent Ductus

Arteriosus (PDA) if the Infant has Any of the Following

Necrotizing enterocolitis
Serum creatinine >1.6 mg/dL
Hourly urine output<1 mL/kg
Bleeding diathesis
Platelets <50,000.

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Pediatric Spots

13.17.1. Note:
1. It is OK to use if the infant has an interventricular hemorrhage.
2. Indomethacin loses its effectiveness fairly quickly.
3. By 34 days, it is less effective because of prostaglandins play a less
significant role in keeping PDA open.

13.18. Meconium Plugs Occur More Commonly in Infants with

Small left colon syndrome

Cystic fibrosis (CF)
Hypothyroidism
Rectal aganglionosis
Maternal drug abuse
Magnesium sulfate therapy for pre-eclampsia.

13.19. Risk Factors for Severe Hyperbilirubinemia

Predischarge total bilirubin in a high-risk zone defined as >95th percentile
for age.
Jaundice within the first 24 hours of life.
Hemolytic disease due to immune- mediated hemolysis.
Gestational age 3536 weeks.
Previous sibling who required phototherapy.
Cephalhematoma.
Significant bruising from birth trauma.
An infant who is exclusively breast- fed and lost >12% of body weight.
East-Asian or Greek race.

13.19.1. Other minor risk factors include

Gestational age 41 weeks
African-American race
Male gender.

13.20. Neonatal Jaundice

13.20.1. Jaundice appears after the 3rd day during the first week
suggests
Sepsis
Urinary tract infections
Congenital infection (syphilis and CMV).

Neonatology

169

13.20.2. Jaundice occurs after the first week considers

Breast milk jaundice

Sepsis
Galactosemia
Hypothyroidism
CF
Congenital atresia of the biliary ducts
Hepatitis
Spherocytosis
Other weird hemolytic anemia, e.g. pyruvate kinase deficiency
Drugs (specially in G6PD deficiency).

13.20.3. Jaundice is persistent, so think of the following

Inspissated bile syndrome

Hyperalimentation/drug-induced cholestasis
Hepatitis
A TORCH disease
Congenital atresia of the bile ducts
Galactosemia.

13.21. Guidelines for Implementing Phototherapy in Hyperbilirubinemia

13.21.1. For infants at low-risk
( 38 weeks gestation and without risk factors)
Phototherapy is started at the following total serum bilirubin values:
24 hours of age: > 12 mg/dL (205 mmol/L)
48 hours of age: > 15 mg/dL (257 mmol/L)
72 hours of age: > 18 mg/dL (308 mmol/L).

13.21.2. For infants at medium risk

( 38 weeks gestation with risk factors or 3537 6/7 weeks without risk
factors)
Phototherapy is started at the following total serum bilirubin values:
24 hours of age: > 10 mg/dL (171 mmol/L)
48 hours of age: > 13 mg/dL (222 mmol/L)
72 hours of age: > 15 mg/dL (257 mmol/L).

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Pediatric Spots

13.21.3. For infants at high-risk

(3537 6/7 weeks with risk factors)
Phototherapy is started at the following total serum bilirubin values:
24 hours of age: > 8 mg/dL (137 mmol/L)
48 hours of age: > 11 mg/dL (188 mmol/L)
72 hours of age: > 13.5 mg/dL (231 mmol/L).

13.21.4. Risk factors

Isoimmune hemolytic disease

Glucose-6-phosphate dehydrogenase (G6PD)deficiency
Asphyxia
Significant lethargy
Temperature instability
Sepsis
Acidosis
Albumin <3.0 gm/dL.

13.22. Guidelines for Implementing Exchange Transfusion in

Hyperbilirubinemia
13.22.1. For infants at low-risk
( 38 weeks gestation and without risk factors)
Exchange transfusion is indicated for the following total serum bilirubin values:
24 hours of age: > 19 mg/dL (325 mmol/L)
48 hours of age: > 22 mg/dL (376 mmol/L)
72 hours of age: > 24 mg/dL (410 mmol/L)
Any age: 25 mg/dL (428 mmol/L).

13.22.2. For infants at medium risk

( 38 weeks gestation with risk factors or 3537 6/7 weeks without risk
factors)
Exchange transfusion is indicated for the following total serum bilirubin values:
24 hours of age: > 16.5 mg/dL (282 mmol/L)
48 hours of age: > 19 mg/dL (325 mmol/L)
72 hours of age: > 21 mg/dL (359 mmol/L).

13.22.3. For infants at high-risk

(3537 6/7 weeks with risk factors)
Exchange transfusion is indicated for the following total serum bilirubin values:
24 hours of age: > 15 mg/dL (257 mmol/L)

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171

48 hours of age: > 17 mg/dL (291 mmol/L)

72 hours of age: > 18.5 mg/dL (316 mmol/L).

13.23. Congenital Syphilis

If an infant is born to a mother with a +VDRL or +RPR, examine the infant for
clinical findings of congenital syphilis:
Nonimmune hydrops
Jaundice
Hepatosplenomegaly
Rhinitis
Pseudoparalysis of an extremity
Skin rash:
1. Vesicular lesions
2. Vesiculobullous lesions
3. Superficial desquamation.
Uveitis /chorioretinitis.

13.24. Neonatal Seizures

13.24. 1. Causes of neonatal seizures
13.24.1.1. Age 14 days
Hypoxic-ischemic encephalopathy
Drug withdrawal, maternal drug use of narcotic or barbiturates
Drug toxicity: lidocaine and penicillin
Intraventricular hemorrhage
Acute metabolic disorders:
1. Hypocalcemia
2. Hypoglycemia
3. Hypomagnesemia
4. Hyponatremia or hypernatremia
Inborn errors of metabolism
1. Galactosemia
2. Hyperglycinemia
3. Urea cycle disorders
Pyridoxine deficiency.

13.24.1.2. Age 414 days

Infection.
Metabolic disorders.

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Pediatric Spots

Drug withdrawal, maternal drug use of narcotic or barbiturates.

Benign neonatal convulsions, familial and nonfamilial.
Kernicterus and hyperbilirubinemia.
Developmental delay, epilepsy and neonatal diabetes (DEND) syndrome.

13.24.1.3. Age 28 weeks

Infection
Head injury
Inherited disorders of metabolism
Malformations of cortical development
Tuberous sclerosis
Sturge-Weber syndrome.

13.24.2. Facts about neonatal seizures

13.24.2.1. Definition
Neonatal seizures, as with any other type of seizure, are paroxysmal, repetitive and stereotypical events.

13.24.2.2. Presentation
1. They are usually clinically subtle, inconspicuous and difficult to recognize
from the normal behaviors of the interictal periods or physiological
phenomena.
2. There is no recognizable postictal state.
3. Generalized tonic clonic seizures (GTCS) are exceptional.

13.24.2.3. Main types of neonatal seizures

The most widely used scheme is by Volpe of five main types of neonatal seizure:
Subtle seizures (50%)
Tonic seizures (5%)
Clonic seizures (25%)
Myoclonic seizures (20%)
Nonparoxysmal repetitive behaviors.

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173

13.25. Characteristic Features of Early- and Late-onset

Neonatal Listerosis
Early onset (< 5 days)

Late onset ( 5 days)

Positive result of maternal Listeria

culture

Negative results of maternal Listeria

culture

Obstetric complications

Uncomplicated pregnancy

Premature delivery

Term delivery

Low birth weight

Normal birth weight

Neonatal sepsis

Neonatal meningitis

Mean age at onset 1.5 days

Mean age at onset 14.2 days

Mortality rate is >30%

Mortality rate is <10%

13.26. Characteristic Features of Early- and Late-onset

GBS Disease

Age at onset

Early-onset disease

Late-onset disease

06 days

790 days

Increased risk after obstetric Yes

complications

No

Common clinical
manifestations

Sepsis, pneumonia and

meningitis

Bacteremia,
meningitis and other
focal infections

Common serotypes

Ia, III, V, II, Ib

III predominates

Case fatality rate

4.7%

2.8%

13.27. Screening for Inborn Errors of Metabolism that

Cause Neonatal Seizures
13.27.1. Blood glucose low
Fructose 1,6-diphosphatase deficiency
Glycogen storage disease type I
Maple syrup urine disease.

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Pediatric Spots

13.27.2. Blood calcium low

Hypoparathyroidism
Maternal hyperparathyroidism.

13.27.3. Blood ammonia high

Argininosuccinic acidemia
Carbamylphosphate synthetase deficiency
Citrullinemia
Methylmalonic acidemia (may be normal)
Multiple carboxylase deficiency
Ornithine transcarbamylase deficiency
Propionic acidemia (may be normal).

13.27.4. Blood lactate high

Fructose 1,6-diphosphatase deficiency

Glycogen storage disease type I
Mitochondrial disorders
Multiple carboxylase deficiency.

13.27.5. Metabolic acidosis

Fructose 1,6-diphosphatase deficiency

Glycogen storage disease type I
Maple syrup urine disease
Methylmalonic acidemia
Multiple carboxylase deficiency
Propionic acidemia.

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13.28. Pathophysiology of Meconium Passage and the Meconium

Aspiration Syndrome

13.29. Congenital Infections

13.29.1. Features of congenital Cytomegalovirus infection
1. Small for dates
2. Mental retardation
3. Petechial rash
4. Seizures
5. Hepatosplenomegaly
6. Central nervous system calcification
7. Chorioretinitis

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Pediatric Spots

8. Microgyria
9. Deafness.

13.29.2. Features of congenital rubella infection

1. Growth retardation
2. Cataracts
3. Purpura
4. Deafness
5. Thrombocytopenia
6. Perivascular necrotic areas
7. Hepatosplenomegaly
8. Polymicrogyria
9. Congenital heart disease
10. Heterotopias
11. Chorioretinitis
12. Subependymal cavitations.

13.29.3. Features of congenital toxoplasmosis infection

1. Purpura
2. Hydrocephalus
3. Hepatosplenomegaly
4. Chorioretinitis
5. Jaundice
6. Cerebral calcification
7. Convulsions.

13.30. Neonatal Features of Maternal Drugs Intake Prenatally

13.30.1. Fetal alcohol syndrome
1. Growth retardation
2. Feeding problems
3. Ptosis
4. Neuroglial heterotopia
5. Absent philtrum and hypoplastic upper lip
6. Disorganization of neurons
7. Congenital heart disease.

13.30.2. Fetal phenytoin syndrome

1.
2.
3.
4.
5.

Growth delay
Broad nasal ridge
Hypoplasia of distal phalanges
Anteverted nostrils
Inner epicanthic folds.

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13.31. Definitions by World Health Organization (WHO)

13.31.1. Gestation (independent of birth weight)
1. Preterm = Less than 37 completed weeks of gestation (258 days).
2. Full-term = Between 37 weeks and 42 completed weeks of gestation (259
293 days).
3. Post-term or postmature = More than 42 completed weeks (294 days).
Dates are taken from the first day of the last menstrual period.

13.31.2. Birth weight (independent of gestation)

1.
2.
3.
4.

Low birth weight = Less than 2500 gm

Very low birth weight = Less than 1500 gm (accepted by convention)
Extremely low birth weight = Less than 1000 gm
Impossibly or incredibly low birth weight = Less than 750 gm.

13.31.3. Size for gestation

1. Small for gestation (SGA) = Less than 10th centile in weight expected for
gestation (small for dates).
2. Appropriate for gestation (AGA) = Between 10th and 90th centiles of
weight expected for gestation.
3. Large for gestation (LGA) = More than 90th centile in weight expected for
gestation.

13.31.4. The neonate

1. Perinatal period = The period from 24 weeks gestation or the time of the
live birth if less than 24 weeks gestation, to 7 days of postnatal age.
2. Early neonatal period = The first 7 days of life of a liveborn infant of any
gestation.
3. Late neonatal period = 828 days after birth.
4. Neonatal period = The first 28 days of life of a liveborn infant of any
gestation.
5. Infancy = The first year of life.

13.31.5. Mortality rates

1. Stillbirth rate = Number of stillbirths per 1000 total births.
2. Perinatal mortality rate (PMR) = Number of stillbirths + early (upto 7
days) neonatal deaths per1000 total births.
3. Neonatal mortality rate (NNMR) = Number of deaths in the first 28 days
per 1000 live births.
4. Infant mortality rate (IMR) = Number of deaths in the first 365 days per
1000 live births.

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Pediatric Spots

13.32. Conditions Predisposing to Birth Injury

Poor maternal health
Maternal age (very young and old)
Grand multiparity
Twins (particularly the second)
Prematurity/low birth weight
Malpresentation

Cephalopelvic disproportion
Hydrocephalus
Macrosomia
Dystocia
Contracted pelvis
Instrumental delivery

13.33. The Major Clinical Features for Grading the Severity of

Hypoxic-Ischemic Encephalopathy
Mild
Irritability

Moderate
Lethargy

Hyper-alert
Normal tone

Severe
Coma

Seizures
Differential tone (legs > arms)
(neck extensors > flexors)
Weak suck
Poor suck and requires
tubefeeds
Sympathetic dominance Parasympathetic dominance

Prolonged seizures
Severe hypotonia
No sucking reflex
Coma and requires
respiratory support

13.34. Differential Diagnosis for Hypoxic-Ischemic

Encephalopathy
Condition
Infective
Traumatic brain lesion
Vascular

Metabolic

Inborn error of metabolism

Congenital brain malformation

Neuromuscular disorder
Maternal drug exposure

Examples
Meningitis (bacterial or viral)
Encephalitis (herpes simplex)
Subdural hemorrhage
Neonatal stroke
Shock secondary to acute blood
loss (antepartum/intrapartum)
Hypoglycemia
Hypo/hypernatremia
Bilirubin encephalopathy
Urea cycle defects
Pyridoxine dependency
Lactate acidemias
Aminoacidemias
Organic acidemias
Neuronal migration disorder
Spinal muscular atrophy
Acute or chronic

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13.35. Etiology of the Small for Gestational Age (SGA) Neonate

Maternal causes
These consist of in utero starvation and placental insufficiency
Essential hypertension

Multiple pregnancy

Pregnancy-associated
hypertension (PET)

Poor socioeconomic circumstances

with severe malnutrition

Chronic renal disease

Excess smoking

Long-standing diabetes

Excess alcohol

Heart disease in pregnancy

Living at high altitude

Fetal causes
Congenital abnormality
Congenital infection
(chromosomal and many (rubella, toxoplasmosis,
syndromes, e.g. potter)
cytomegalovirus, herpes
simplex and syphilis)

Early fetal toxins such

as alcohol, phenytoin
and warfarin

13.36. Problems of the Small for Gestational Age (SGA) Neonate

Hypoglycemia.
Hypothermia.
Polycythemia.
Neutropenia and thrombocytopenia.
Hypocalcemia.
Infection.
Congenital abnormality (36%).
Pulmonary hemorrhage.
Other humoral and metabolic abnormalities (high ammonia, urea, and
uric acid levels, high circulating cortisol, corticosterone and growth
hormone levels after birth.

13.37. Etiology of the Large for Gestational Age (LGA) Neonate

1. Constitutionally large baby from heavy large mother.
2. Maternal diabetes or prediabetesThe infant of the diabetic mother
(IDM) or the infant of the gestational diabetic mother (IGDM).
3. Severe erythroblastosis.
4. Other causes of hydrops fetalis and ascites.
5. Transposition of the great arteries (sometimes).
6. Syndromes:
a. Beckwith-Wiedemann (BW) syndrome
b. Sotos syndrome
c. Marshall syndrome
d. Weaver syndrome.

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Pediatric Spots

13.38. Problems of the Large for Gestational Age (LGA) Neonate

Birth asphyxia and trauma

Hypoglycemia
Polycythemia
Apparent large postnatal weight loss.

13.39. Complications of Parenteral Nutrition

1.





2.

Catheter related
a. Sepsis-bacterial or fungal
b. Thrombosis/obstruction
c. Hemorrhage
d. Extravasation of fluid from peripheral lines
e. Catheter displacement and breakage or removal.
Metabolic related
a. CholestasisOften reversible, and reduced by minimal enteral
feeding.
b. Fat embolism and lipid overloadRare.
c. Hyperglycemia and glycosuria.
d. Hyperammonemia and acidosisRare.

13.40. Factors Affecting the Incidence of RDS

Decrease

Increase

Intrauterine growth retardation

Asphyxia

Prolonged rupture of membranes

Severe rhesus disease

Maternal steroid therapy

Maternal diabetes

Maternal smoking

Maternal hypertension

Sickle cell disease

Antepartum hemorrhage

Heroin

Elective cesarean section

Alcohol

Second twin

Black infants

Family history

Girls

Boys

Bibliography

1. http://emedicine.medscape.com/article/410969-overview#a19
2. http://emedicine.medscape.com/article/898437-overview
3. http://pediatrics.aappublications.org/content/120/6/1390.full
4. http://www.cdc.gov/Features/PrematureBirth/
5. http://www.cdc.gov/groupbstrep/about/newborns-pregnant.html

Neonatology

181

6. http://www.medscape.com/medline/abstract/5063132
7. http://www.ncbi.nlm.nih.gov/books/NBK2599/
8. J. Eric Pia-Garza. Finishers clinical pediatric neurology. Seventh edition.
Saunders 2013.
9. www.kellogg.umich.edu
10. www.thenurseslockerroom.com

CHAPTER

14

Nephrology
14.1. Most Frequent HereditaryMetabolic Diseases of
Childhood that Lead to End-stage Renal Disease
1.
2.
3.
4.
5.
6.
7.

Nephronophthisis-medullary cystic disease

Nephropathic and juvenile cystinosis
Congenital nephrotic syndrome
Primary oxalosis with oxaluria
Alport syndrome
Nail-patella syndrome
Polycystic kidney disease (both infantile and adult varieties).

14.2. Causes of End-stage Renal Disease (ESRD) Vary with the

Patient's Age and Include

Congenital renal diseases (53%)

Glomerulonephritides (20%)
Focal segmental glomerular sclerosis (12%)
Metabolic diseases (10%)
Miscellaneous (5%).

14.3. Causes of Anemia in Chronic Kidney Disease (CKD)

1.
2.
3.
4.
5.
6.
7.
8.

Abnormally low erythropoietin levels (most common)

Functional or absolute iron deficiency
Blood loss (either occult or overt)
Uremic inhibitors (e.g. parathyroid hormone {PTH}, spermine, etc.)
Reduced half-life of circulating blood cells
Folate deficiency
Vitamin B12 deficiency
Combination of these with a deficiency of erythropoietin.

14.4. Schwartz Formula for Estimation of Creatinine Clearance

Creatinine clearance = K (height in cm/plasma creatinine in mg/dL)
K is an age-dependent constant.

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Nephrology

14.4.1. Creatinine clearance

0.45 for children <2 years
0.55 for children and adolescent girls
0.70 for adolescent boys.

14.5. Important Concepts Used in Determining Acid-base Status

14.5.1. What effect ventilation, which is reflected in the PaCO2, has
on pH and HCO3
14.5.2. What effect metabolic alkalosis or acidosis, reflected in the
HCO3, has on PaCO2 (ventilation)
14.5.3. Anion gap and osmolal gap
Note:

I. Normal serum anion gap (AG) is 12
AG = Na+ (Cl + HCO3 )

II. Normal urine anion gap (UAG) is negative, indicating that kidney is
producing an unmeasured cation, i.e. ammonia (NH+4 )
UAG = Na+ + K+ Cl

14.6. Changes in Blood ChemistryRespiratory vs Metabolic

Disorders
Equilibrium reactions
between PaCO2 and HCO3

Respiratory
disorders

Metabolic
disorders

Then pH
changes:
(acute/
chronic)

Then HCO3
changes:
(acute/
chronic)

If PaCO2
decreased by 10

0.08
0.04

2
5

If PaCO2
increased by 10

0.08
0.04

1
4

Then
PaCO2
changes:

If HCO3
decreased by 10

12

If HCO3
increased by 10

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Pediatric Spots

14.7. Metabolic Acidosis

Metabolic acidosis occurs with:
Overproduction of lactic acids or ketoacids

HCO3 wasting (renal tubular acidosis or diarrhea)

Underexcreation of acid (renal failure)
Poisoning by agents that are metabolized to acids.
Approach for evaluating metabolic acidosis

14.8. Anion Gap and Metabolic Acidosis

Causes of increased anion gap metabolic acidosis:
Causes

Examples

1. Severe chronic renal failure (CRF)

Decreased acid (specially NH4+)

excretion-most common

2. Ketoacidosis

Diabetes, alcoholic and starvation

3. Lactic acidosis

Drugs, toxins, circulatory compromise

4. Poisoning

Salicylates, methanol, ethylene glycol

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185

14.9. Analysis of Acid-base Problems

14.9.1. First step
1. Acidosis or alkalosis?

Determine primary abnormality: Respiratory or metabolic (Role 1).

2. Calculate anion gap (Role 2).

3. If an anion gap (AG) is present, then calculate the difference between the
calculated AG and a normal AG of 12.

This is also known as - (delta-delta) (Role 3).

4. Is there compensation?

If pCO2 and HCO3 are changed in opposite directions, there must be

more than one disorder.

14.9.2. Second step

Well go through these roles.

14.9.2.1.Role 1: Look at the pH

< 7.35 indicates acidemia

> 7.45 indicates alkalemia.

14.9.2.2.Role 2: Calculate the anion gap

AG = Na+ (Cl + HCO3)
If the AG is 20:
There is a primary metabolic acidosis, regardless of pH or bicarbonate
There is an anion gap metabolic acidosis.

14.9.2.3.Role 3: Calculate the excess anion gap (when Ag is increased)

Using the delta-delta, which uses:
The differences between measured and normal anion gap
The difference between measured and normal bicarbonate.

14.9.2.3.1. So
i.
ii.

Find the difference between measured and normal anion gap

Then add the measured bicarbonate
(Measured anion gap -12) + measured bicarbonate
The result will then be compared to normal bicarbonate.

14.9.2.3.2. If the result is:

i. Greater than a high-normal bicarbonate (30)

an underlying metabolic alkalosis.

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Pediatric Spots

ii. Less than a low-normal bicarbonate (24)

an underlying nonanion gap metabolic acidosis.

14.10. Persistent Asymptomatic Hematuria

In an otherwise healthy child can usually be attributed to 1 of 4 causes:
1. Idiopathic hypercalciuria (diagnosed with urine calcium: creatinine
>0.2).
2. IgA nephropathy.
3. Thin basement membrane disease.
4. Early Alport syndrome (family history of hearing loss or renal failure
specially in males).

14.11. Evaluation of Hematuria in ChildrenTests for All Children

at Initial Presentation
1. CBC
2. Urinalysis
3. Serum creatinine
4. Urine calcium: Creatinine ratio (U Ca: cr)
Urine protein: Creatinine ratio (Upr:cr)
5. Serum C3 level
6. Ultrasound (if above dont reveal the problem).

14.12. Evaluation of Hematuria in ChildrenTests for

Selected Children
14.12.1. Laboratory tests

DNase B titer/streptozyme if hematuria <6 months duration

Throat culture for group A streptococcus
Culture of skin lesion consistent with group A streptococcus
ANA titer
Urine RBC morphology
Coagulation studies
Sickle cell screen
ANCA test
Anti-GBM test.

14.12.2. Voiding cystourethrogram

With infection or when suspicion of lower tract infection.

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187

14.12.3. Renal biopsy indicated for the following

Persistent microscopic hematuria

Hematuria with diminished renal function
Proteinuria exceeding 150 mg/24 hours
Hypertension
Recurrent episode of gross hematuria.

14.12.4. Cystoscopy indicated for the following

Pink to red hematuria
Dysuria with a sterile urine culture.

14.13. Classical Features of Henoch-Schnlein Purpura (HSP)

(Anaphylactoid Purpura)
1. Purpuric rash (over the buttocks, abdomen and lower extremities)
2. Abdominal pain
3. Arthralgias
4. Glomerulonephritis with IgA deposition.

14.14. Classical Features of Nephrotic Syndrome Usually Includes

Proteinuria > 50 mg/kg /24 hours (or >3.5 gm/24 hours)

Serum albumin <3 mg/dL
Edema
Hypercholesterolemia.

14.15. Poor Prognostic Features of Hemolytic Uremic Syndrome

Anuria lasting longer than 2 weeks.

Initial neutrophil count >20,000.
Coma on admission.
Atypical forms of the disease (e.g. the diarrheal form has a better
prognosis).

14.16. Facts About Renal Tubular Acidosis (RTA)

14.16.1. Facts concerning RTA
All RTAs have a normal anion gap, i.e. all are hyperchloremic
There are 3 types; one proximal (type II) and two distal (I and IV)
There is no type III.

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Pediatric Spots

14.16.2. Facts concerning serum K+, remember

Type I is low K+
Type II is low to normal K+
Type IV is high K+.

14.17. Type II RTA (Proximal RTA)

14.17.1. Facts concerning type II RTA (proximal RTA)
The defect is decreasing bicarbonate reabsorption in the proximal tubule.
Caused by a mechanism similar to that of acetazolamide.
Type II in children is frequently caused by Fanconi syndrome.
An acidic urine (i.e. normal) is usually found in type II RTA.

14.17.2. Causes of type II RTA

1. Fanconi syndrome
2. Drugs (Acetazolamide and 6-mercaptopurine)
3. Heavy metal poisonings (lead, copper, mercury, cadmium)
4. Disorders of protein, carbohydrate, or amino acid metabolism
5. Multiple myeloma.

14.18. Type IV RTA

14.18.1. Facts concerning type IV RTA
Affects the Na+/K+-H+ exchange mechanism in the distal tubule
It has an effect similar to spironolactone or hypoaldosteronism
Hyperkalemia and hyperchloremic (i.e. normal anion gap) acidosis.

14.18.2. Causes of type IV RTA

1. Obstructive uropathy
2. Interstitial renal disease
3. Multicystic dysplastic kidneys
4. Type I pseudohypoaldosteronism
5. Diabetic nephropathy
6. 21-hydroxylase deficiency
7. Renal transplant.

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189

14.19. Type I RTA (Distal RTA)

14.19.1. Facts concerning type I RTA
Defect is only in H+ secretion.
Patient becomes acidotic and hypokalemic.
Commonly causes renal stone (from decreased citrate excretion and
hypercalciuria).

14.19.2. Causes of type I RTA

1. Amphotericin B
2. Toluene (glue sniffing)
3. Lithium
4. SLE
5. Sjgrens disease
6. Chronic active hepatitis.

14.20. Acute Renal Failure

N.B. Prerenal failure is always due to a decrease in renal blood flow.

14.20.1. Facts concerning acute renal failure

Fractional excretion of Na+ (FE Na+) is best first test in assessing renal
failure
This is very low (<1%) in prerenal azotemia.
Urine sediment and protein further differentiate between prerenal and
acute glomerulonephritis.
If a patient has renal failure with a FE Na+ <1 and a normal urine sediment (or
just granular or hyaline casts), the patient has prerenal azotemia.

14.20.2. Prerenal causes of acute renal failure

Severe intravascular volume loss

Renal artery stenosis
Congestive heart failure
Cirrhosis of the liver
Nephrotic syndrome
Drugs:
1. Diuretics (most common)
2. NSAIDs
3. ACE inhibitors
4. Interleukin-2.

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Pediatric Spots

14.20.3. Intrarenal causes of acute renal failure

Acute tubular necrosis (ATN-ischemia or nephrotoxic).
Vascular problems (large blood vessels).
Glomerular damage (i.e. the acute glomerular nephritides)
(This is the first cause of acute renal failure in children).
Acute interstitial nephritis.

14.20.4. Postrenal causes of acute renal failure

Usually due to bladder outlet obstruction (posterior urethral valves).
BUN: Cr ratio is elevated (because the urea diffuse back into the system).
K+ may be elevated (due to associated Type IV RTA).

14.21. Causes of Chronic Interstitial Nephritis

Renal outlet obstruction

Drugs: Chronic analgesic abuse, cisplatin, cyclosporine
Heavy metal (lead, cadmium)
Sjgrens disease
Sickle-cell disease.

14.22. Risk Factors Associated with the Development of UTI

Risk factors associated with the development of UTI:
1. Age and sex
2. Race
3. Family history
4. Constipation
5. Sexual activity
6. Bladder catheterization
7. Abnormalities of the urinary tract
Vesicoureteric reflux (VUR)
Obstruction.

14.23. Effects of Constipation on Urinary System

Constipation in children increases the likelihood of:
1. Urinary incontinence
2. Dysfunctional voiding
3. Large capacity
4. Poorly emptying bladder
5. UTI.

Nephrology

14.24. Differential Diagnosis of Enuresis

Differential diagnosis of enuresis
1. Urinary tract infection
2. Detrusor instability
3. Neuropathic bladder
4. Ectopic ureter
5. Posterior urethral valves
6. Chronic renal disease
7. Diabetes mellitus.

14.25. VUR Grading

Fig. 14.1: VUR grading

191

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Pediatric Spots

14.26. Causes of Hematuria

Causes of hematuria
1. Infection

a. Bacterial

b. Viral

c. Schistosomiasis

d. Tuberculosis.
2. Glomerular diseases
3. Stones

a. Urolithiasis

b. Idiopathic hypercalciuria.
4. Trauma
5. Anatomic abnormalities

a. Congenital abnormalities, e.g. pelviureteric junction obstruction

b. Polycystic kidneys

c. Tumor.
6. Vascular

a. Arteritis

b. Infarction and thrombosis

c. Loin painHematuria syndrome.
7. Hematological

a. Coagulopathies

b. Sickle-cell disease.
8. Drugs, e.g. cyclophosphamide
9. Exercise-induced
10. Factitious.

14.27. Investigations for Children with Renal Calculi

Investigations for children with renal calculi
1. Urinalysis including pH and urine for amino acids.
2. Urine culture.
3. Plasma biochemistry including creatinine, chloride, bicarbonate,
calcium, phosphate, urate, magnesium levels.
4. Second morning urine sample for calcium :creatinine and oxalate:
creatinine ratios (24 hours urine collections to confirm hypercalciuria or
hyperoxaluria in older children).
5. Analysis of calculus if available.

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193

14.28. Classification of Glomerular Disorders

14.28.1. Primary glomerulonephritis
1. Immune complex glomerulonephritis
a. Postinfectious acute glomerulonephritis
b. IgA nephropathy (Berger disease)
c. Membranoproliferative glomerulonephritis (types I to III)
d. Membranous glomerulonephritis (idiopathic).
2. Anti-GBM-antibody-mediated glomerulonephritis.
3. Uncertain etiology, e.g. minimal lesion glomerulonephritis, focal
segmental glomerulosclerosis.

14.28.2. Glomerulonephritis associated with systemic disorders

1. Immunologically-mediated
a. Henoch-Schnlein purpura.
b. Systemic lupus erythematosus and other collagen disorders, e.g.
scleroderma.
c. Polyarteritis nodosa, Wegeners granulomatosis and other
vasculitides.
d. Mixed cryoglobulinemia.
e. Systemic infections (subacute bacterial endocarditis, shunt nephritis,
syphilis, malaria, hepatitis B, HIV).
2. Hereditary disorders
a. Familial nephritis, e.g. Alport syndrome
b. Sickle cell anemia.
3. Other conditions
a. Diabetes mellitus
b. Amyloidosis.

14.29. Causes of Proteinuria

14.29.1. Intermittent proteinuria
1. Postural (orthostatic)
2. Nonpostural
a. Exercise
b. Fever
c. Anatomic abnormalities, e.g. urinary tract
d. Glomerular lesions, e.g. IgA nephropathy
e. Random finding; no known cause.

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Pediatric Spots

14.29.2. Persistent proteinuria

1. Glomerular
a. Isolated asymptomatic proteinuria.
b. Damage to glomerular basement membrane, e.g. acute or chronic
glomerulonephritis.
c. Loss or reduction of basement membrane anionic charge, e.g.
minimal change and congenital nephrosis.
d. Increased permeability in residual nephrons, e.g. chronic renal
failure.
2. Tubular
a. Hereditary, e.g. cystinosis, Wilson disease, Lowe syndrome, proximal
tubular acidosis, galactosemia.
b. Acquired, e.g. interstitial nephritis, acute tubular necrosis,
postrenal transplantation, pyelonephritis, vitamin D intoxication,
penicillamine, heavy metal poisoning (gold, lead, mercury, etc.),
analgesic abuse, drugs.

14.30. The Features of Nephrotic Syndrome

1. Heavy proteinuria (> 40 mg/hour/m2 or protein/creatinine ratio > 200
mg/mmol).
2. Hypoalbuminemia (< 25 gm/L).
3. Edema.

14.31. Indications for Renal Biopsy in Children with Nephrotic

Syndrome
14.31.1. Renal biopsy is recommended before treatment with
corticosteroids when the nephrotic syndrome occurs
1. Onset at less than 6 months of age (congenital nephrotic syndrome types).
2. Evidence of a mixed nephritic/nephrotic picture with hypertension and/
or low plasma C3 (pathology other than MCD more likely).

14.31.2. Renal biopsy may be considered in children with

nephrotic syndrome
1.
2.
3.
4.

Onset between 6 and 12 months of age

Onset over 12 years of age (other pathology may be more likely)
Persistent hypertension, microscopic hematuria, or low plasma C3
Renal failurePersistent and not attributable to hypovolemia.

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195

14.32. Causes of Infantile Nephrotic Syndrome

14.32.1. Primary causes
a.
b.
c.
d.
e.
f.

Congenital nephrotic syndromeNPHS1; NPHS2 mutations.

Diffuse mesangial sclerosis.
Minimal change nephrotic syndrome.
Focal segmental glomerulosclerosis.
Denys-Drash syndrome.
Nail-patella syndrome; Pierson syndrome; Galloway-Mowatt syndrome.

14.32.2. Secondary causes

a. Syphilis
b. Toxoplasmosis
c. Cytomegalovirus
d. Mercury
e. Hodgkins lymphoma or T cell malignancies.

14.33. Causes of Hypertension

14.33.1. Causes of hypertension in newborn
1.
2.
3.
4.
5.
6.
7.
8.

Renal artery thrombosis

Renal artery stenosis
Renal venous thrombosis
Congenital renal abnormalities
Coarctation of the aorta
Bronchopulmonary dysplasia
Patent ductus arteriosus
Intraventricular hemorrhage.

14.33.2. Causes of hypertension in the first year

1. Coarctation of the aorta
2. Renovascular disease
3. Renal parenchymal diseases.

14.33.3. Causes of hypertension 16 years

1.
2.
3.
4.
5.

Renal parenchymal diseases

Renovascular disease
Coarctation of the aorta
Endocrine causes
Essential hypertension.

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Pediatric Spots

14.33.4. Causes of hypertension 612 years

1.
2.
3.
4.
5.
6.

Renal parenchymal diseases

Renovascular disease
Essential hypertension
Coarctation of the aorta
Endocrine causes
Iatrogenic (e.g. medications, postoperative hypertension).

14.33.5. Causes of hypertension 1218 years

1. Essential hypertension
2. Iatrogenic
3. Renal parenchymal diseases
4. Renovascular disease
5. Endocrine causes
6. Coarctation of the aorta.

14.34. Causes of Renal Hypertension

Causes of renal hypertension
1. Chronic renal failure and postrenal transplant
2. Renal parenchymal disease

a. Scarring due to reflux nephropathy or obstructive uropathy

b. Acute or chronic glomerulonephritis

c. Hemolytic uremic syndrome

d. Renal dysplasia

e. Polycystic kidneys.

3. Renovascular disease

a. Renal artery stenosis

b. Renal artery thrombosis

c. Renal artery aneurysm

d. Arteriovenous fistula.

4. Renal tumors
a. Nephroblastoma
b. Hamartoma
c. Hemangiopericytoma.

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197

14.35. Biochemical Urine Indices in Renal Failure

Prerenal

Renal

Urine osmolality (mOsm/kg)

> 500

< 350

Urine Na (mmol/L)

< 20

> 40

U/P creatinine

> 40

< 20

U/P urea

> 15

<5

< 1%

> 3%

FeNa + =

UNa PCr
PNa UCr

14.36. Guidelines on the Indications for Dialysis

1. Uncontrollable fluid overload/hypertension.
2. Uncontrollable acidosis.
3. Symptomatic electrolyte disturbances not controlled by above measures.
4. Symptomatic uremia.
5. Presence of a dialyzable toxin.
6. Established anuria, even if 15 not present, provided obstruction
excluded.

14.37. Stages of Chronic Renal Failure (CRF)

Stage of CRF
Mild
Moderate
Severe
End-stage renal failure

GFR (mL/min/1.73 m2)

5075
2550
< 25
< 10

Features
Asymptomatic
Metabolic abnormalities
Progressive growth failure
Require renal replacement
therapy

Bibliography

1. http://kidney.niddk.nih.gov/kudiseases/pubs/biopsy/
2. http://www.deflux.com/country/usa/?q=node/50
3. http://www.edrep.org/pages/textbook/anaemia.php
4. http://www.emedicinehealth.com/cystoscopy/article_em.htm
5. http://www.kidney.niddk.nih.gov/kudiseases/pubs/tubularacidosis/
6. http://www.radiologyinfo.org/en/info.cfm?pg=voidcysto

CHAPTER

15

Neurology
15.1. MRI of the Head
1.
2.

May detect cerebral dysgenesis at any age in a child

Consider it if any of the following are present
Cerebral palsy
Abnormal head shape or size
Craniofacial malformation
Seizures
Loss or stagnation of developmental skills
Neurocutaneous abnormalities
IQ < 50.

15.2. Cytogenetic Chromosome Testing for Mental Retardation

If mental retardation is present, do cytogenetic chromosome testing if any of
the following is also found:
Microcephaly
Family history of mental retardation
Family history of fetal loss
IQ <50
Skin pigmentary abnormalities
Suspected genetic syndrome.

15.3. Delayed Language Development

50% of children with delayed language development will have delays in
other areas.
Common causes of language development problems:
Hearing deficiency (always order the hearing first)
Mental retardation
Dysphasia
Dysarthria
Structural problems of the mouth/respiratory tract
Child abuse/neglect.

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199

15.4. Diagnostic Criteria for Migraine Headaches

Two of the following criteria are mandatory to diagnose migraine headaches.
Pain on one side (although children with migraine can have bifrontal or
bitemporal pain).
Pulsating/throbbing character.
Moderate-to-severe intensity.
Increasing severity with activity.

15.5. Febrile Infection-related Epilepsy Syndrome (FIRES)

The clinical characteristic best conceptualized FIRES as a chronic epilepsy
with an explosive onset include:
The similar perirolandic and perisylvian features of acute and chronic
seizures.
The lack of a silent period.
The absence of evidence of cerebral inflammation.
The poor response to immunotherapies.

15.6. EEG Series

15.6.1. Absence seizure
Note the asymmetrical left frontal onset.

Fig. 15.1: EEG graph of absence seizure

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Pediatric Spots

15.6.1.1. Absence (Petit mal) seizure in an 8-year-old boy

Fig. 15.2: EEG of absence seizure in an 8 year old boy

15.6.1.2. Atypical absence seizure in a patient with encephalopathic

generalized epilepsy
Notice the polyspikes that evolve to a slow spike-and-wave pattern.

Fig. 15.3: EEG of atypical absence seizure

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201

15.6.2. Myoclonic seizure

Myoclonic seizure associated with a burst of generalized polyspike-andwaves in a patient with juvenile myoclonic epilepsy (JME).

Fig. 15.4: EEG of myoclonic seizure

15.6.3. Infantile spasm

Infantile spasm noted in second 7 below with an electrodecremental response obtained in a 3-year-old child with tuberous sclerosis. Note the high
amplitude.

Fig. 15.5: EEG of infantile spasm

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15.6.4. Lennox-Gastaut syndrome

Tonic seizure in a patient with Lennox-Gastaut syndrome.

Fig. 15.6: EEG of Lennox-Gastaut syndrome

15.6.5. Simple partial seizure

The below EEG shows a simple partial seizure that occurred out of stage 2
sleep.

Fig. 15.7: EEG of simple partial seizure

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203

15.6.6. Temporal lobe epilepsy

Right temporal 6- to 7-Hz rhythmic ictal theta discharge at seizure onset in a
patient with temporal lobe epilepsy.

Fig. 15.8: EEG of temporal lobe epilepsy

15.6.7. Frontal lobe epilepsy

Nonlocalized ictal EEG in frontal lobe epilepsy.
Notice the brief right frontal-central repetitive spikes in seconds 7 to 8.

Fig. 15.9: EEG of frontal lobe epilepsy

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15.7. Screening Scheme for Developmental Delay: Upper Range

Age
(mo.)

Gross motor

Fine motor

Social skills

Language

Supports
weight on
forearms

Opens hands
spontaneously

Smiles
appropriately

Coos, laughs

Sits
momentarily

Transfers objects

Shows likes
and dislikes

Babbles

Pulls to stand

Pincer grasp

Plays pat-acake, peek-aboo

Imitates
sounds

12

Walks with one

hand held

Releases
an object on
command

Comes when
called

12 meaningful
words

18

Walks upstairs
with assistance

Feeds from a
spoon

Mimics actions
of others

At least 6
words

24

Runs

Builds a tower of
6 blocks

Plays with
others

23-word
sentences

15.8. Head Growth

15.8.1. The average rate of head growth in a healthy premature
infant
0.5 cm in the 1st 2 week.
0.75 cm in the 3rd week.
1.0 cm in the 4th week and every week thereafter until the 40th week of
development.

15.8.2. The head circumference of an average term infant

Measures 3435 cm at birth
44 cm at 6 month
47 cm at 1 year of age.

15.9. Permanent Causes of Anosmia (Loss of Smell)

1. Head trauma with damage to the ethmoid bone or shearing of the olfactory
nerve fibers as they cross the cribriform plate.
2. Tumors of the frontal lobe.
3. Intranasal drug use.
4. Exposure to toxins (acrylates, methacrylates and cadmium).

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205

5. Occasionally, a child who recovers from purulent.

6. Meningitis or develops hydrocephalus has a diminished.
7. Sense of smell.
8. Rarely, anosmia is congenital (isolated deficit) or as part of Kallman
syndrome (a familial disorder) characterized by:

i. Hypogonadotropic hypogonadism

ii. Congenital anosmia.

15.10. Horner Syndrome

15.10.1. Characterized by
1. Ipsilateral ptosis (droopy eyelid)
2. Miosis (constricted pupil)
3. Anhidrotic (lack of sweating) of the face.

15.10.2. Horner syndrome may be

1. Congenital
2. May be caused by a lesion of the sympathetic pathway in the:
Hypothalamus
Brainstem, cervical spinal cord
Sympathetic plexus.

15.11. Causes of True or Apparent VIth Nerve Weakness in Children

VIth cranial nerve paresis:
Raised intracranial pressure
Brainstem glioma.
Moebius syndrome
Duanes syndrome
Esotropia (abduction is usually normal).

15.12. Most Common Clinical Features of Progressive Infantile

Hydrocephalus
15.12.1. 50% of progressive infantile hydrocephalus cases are
asymptomatic
15.12.2. Symptoms of progressive infantile hydrocephalus
Headache or irritability
Vomiting

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Pediatric Spots

Anorexia
Drowsiness or lethargy.

15.12.3. Signs of progressive infantile hydrocephalus

Inappropriately increasing occipitofrontal circumference (approx 75%).

Tense anterior fontanelle.
Splayed sutures.
Scalp vein distension.
Sunsetting (loss of upward gaze).
Neck retraction or rigidity.
Pupillary changes.
Neurogenic stridor.
Decerebration.

15.13. Clinical Features of Decompensated Hydrocephalus

(Children with Shunts)
15.13.1. Symptoms of decompensated hydrocephalus

Vomiting
Drowsiness or lethargy
Headache
Behavioral change
Anorexia
Valve malfunction
Sleep disturbance
Seizures.

15.13.2. Signs of decompensated hydrocephalus

No clinical signs (approx 25%)

Decreased conscious level
Acute squint
Neck retraction
Distended retinal veins
Sluggish palpable valve mechanism.

15.14. Causes of Acquired Hydrocephalus

1. Posthemorrhagic causes
Neonatal intraventricular hemorrhage

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207

Subarachnoid hemorrhage
Subdural hemorrhage.
2. Postmeningitic
Toxoplasmosis
Mumps (aqueductitis, ependymitis)
Pyogenic organisms (pneumococcus, haemophilus, etc.)
Cytomegalovirus
Other viral meningitides
Rubella
Tuberculous meningitis and tuberculoma.
3. Space-occupying lesions
Tumor
Clot
Cyst
Abscess.
4. Postasphyxial
Injury.

15.15. Dandy-Walker Malformation

15.15.1. This incorporates
1. Cystic dilation of the fourth ventricle.
2. An enlarged posterior fossa with upward displacement of the tentorium.
3. Cerebellar vermian hypoplasia.

15.15.2. Facts on Dandy-Walker malformation

A definitive diagnosis cannot be made until after 18 weeks gestation as
normal cerebellar hemisphere fusion is not complete until 17 weeks
gestation.
There is an association of Dandy-Walker malformations with chromosomal
abnormality in upto 45%.
The outcome for Dandy-Walker malformations and its variants ranges
from normal to severe disability.

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Pediatric Spots

15.16. Classification of Spina Bifida

Fig. 15.10: Types of spina bifida

15.17. Neurofibromatosis 1 (NF1)

15.17.1. Incidence of NF1
NF1 is the most common single gene disorder to affect the human nervous
system with an estimated incidence of 1 in 3000.

15.17.2. Genetics of NF1

This is an autosomal dominant disorder although 50% of cases are
sporadic.
The NF1 gene has been mapped to chromosome 17 and codes the protein
neurofibromin.

15.17.3. Diagnostic criteria for NF1: Two or more of the following

are required
1. Six or more caf-au-lait spots (at least 1.5 cm postpuberty, at least 0.5 cm
prepuberty).
2. Two or more neurofibromas or one or more plexiform neurofibromata.
3. Axillary or inguinal freckling.
4. Optic glioma.

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209

5. Two or more Lisch nodules (benign iris hamartomas).

6. Osseous dysplasia on the sphenoid bone or cortex of a long bone.
7. A first degree relative with NF1.

15.18. Neurofibromatosis 2 (NF2)

15.18.1. Incidence and genetics of NF2
NF2 is very rare with a birth incidence of 1 in 40 000.
It shows autosomal dominant transmission with nearly full pene-trance.
The NF2 gene maps to the long arm of chromosome 22 and codes a
member of the protein 4.1 family of cytoskeletal associated elements.

15.18.2. The diagnosis for NF2 is based on the following criteria

1. Bilateral VIIIth nerve masses detected on neuroimaging.
2. A first degree relative with NF2 and either unilateral VIIIth nerve mass or
two of the following:
i. Neurofibroma
ii. Meningioma
iii. Glioma
iv. Schwannoma

v. Juvenile posterior subcapsular lenticular opacity.

15.19. Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)

15.19.1. Major features
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.

Facial or forehead plaque

Nontraumatic ungual or periungual fibroma
Hypomelanotic macules (more than three)
Shagreen patch (connective tissue nevus)
Multiple retinal nodular hamartoma
Cortical tuber
Subependymal nodule
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma, single or multiple
Lymphangiomyomatosis
Renal angiomyolipoma.

15.19.2. Minor features

1. Multiple randomly distributed pits in dental enamel
2. Hamartomatous rectal polyps
3. Bone cyst

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4.
5.
6.
7.
8.
9.

Pediatric Spots

Cerebral white matter radial migration lines

Gingival fibromas
Nonrenal hamartoma
Retinal achromic patches
Confetti skin lesions
Multiple renal cysts.

15.19.3. Criteria for diagnosis of tuberous sclerosis complex (TSC)

Definite TCSEither two major features or one major feature plus two
minor features.
Probable TCSOne major plus one minor feature.
Possible TCSEither one major feature or two minor features.

Figs 15.11A to C: Tuberous sclerosisVarious skin lesions

15.20. Principal Purposes for the Usage of EEG, to

Help establish the likely diagnosis of epilepsy

Help establish the type of epilepsy
Help identify possible precipitants to epileptic seizures
Investigate the cause of cognitive decline
Help localize the onset of focal seizures
Monitor treatment, including the timing of drug withdrawal.

15.21. Generalized, Self-limited Seizures

15.21.1. Generalized tonic-clonic seizures (GTCS)
Involve an initial, bilaterally symmetrical, sustained contraction of
the muscles (tonic phase) followed by bilateral repetitive, rhythmical
contractions of the limbs (clonic phase).

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211

There is usually a phase of postictal drowsiness, of variable duration.

During GTCS, manifestations such as tongue biting, cyanosis of the lips
and incontinence are frequent.

15.21.2. Tonic seizures

Characterized by sustained muscle contractions lasting a few seconds to
minutes.
It may involve the whole, or greater part, of the body or be confined to
particular parts of the body.
Tonic seizures may be manifested by opisthotonus or by a subtle elevation
of the eyebrows.

15.21.3. Clonic seizures

Manifested by rhythmical contractions of the limbs
An alternative term is rhythmic myoclonus.

15.21.4. Myoclonic seizures

Characterized by sudden, brief (<100 ms), involuntary, single or multiple
contraction(s) of muscle(s) or muscle groups.
They may be massive, involving axial and proximal limb muscles, or subtle
and fragmentary involving distal muscles.

Special types of myoclonic seizure

15.21.4.1. Myoclonic absence seizures
Characterized by a typical absence seizure with rhythmical myoclonus usually involving the head and proximal muscle of the upper limbs.

15.21.4.2. Eyelid myoclonia

Characterized by rhythmical myoclonia of the eyelids sometimes accompanied by a brief typical absence seizure.

15.21.4.3. Myoclonic atonic seizures

Consisting of a brief jerk followed by a diffuse loss of tone.

15.21.5. Atonic seizures

Characterized by a sudden diminution of muscle tone lasting a second or
longer, and involving the head, trunk, jaw or limb musculature.

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Pediatric Spots

15.21.6. Epileptic spasms (previously called infantile spasms)

Consist of a sudden flexion, extension or mixed extension-flexion of,
predominantly proximal and truncal, muscles which is more sustained
than myoclonus but briefer than a tonic seizure (approx 1s).
They frequently occur in clusters and it is now recognized that their
occurrence is not limited to infancy or to West syndrome.

15.21.7. Absence seizures

Characterized clinically by a brief impairment of consciousness.

The depth of impairment of consciousness during absences varies.
Unless mild, automatisms are frequent.
Mild clonic, myoclonic, and atonic phenomena may also occur during
absences.
Automatisms (defined as more or less coordinated, repetitive, motor activity
usually occurring when cognition is impaired and for which the subject is
usually amnesic afterwards.
They are usually relatively simple, e.g. lip smacking and fumbling with
hands.

15.21.7.1. Typical absence seizures

Brief impairment of consciousness is of abrupt onset and cessation with
no postictal symptoms.
Typical absence seizures are accompanied, on the EEG, by generalized
3-Hz spike-wave discharges.

15.21.7.2. Atypical absence seizures

Onset and cessation of the brief impairment of consciousness may be
less clearly defined, with the person appearing to drift into and out of the
seizure.
Atypical absence seizures are usually accompanied by generalized spikewave discharges at frequencies under 2.5 Hz.

15.22. Focal, Self-limited Seizures

15.22.1. Focal motor seizures
Involve muscle activity in any form, with either an increase or decrease in
muscle contraction.

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213

FOCAL MOTOR SEIZURES SUBTYPES INCLUDE

15.22.1.1. Focal motor seizures with elementary clonic motor signs
Imply involvement of the primary motor area of the frontal lobe and may
include a Jacksonian march with spread of clonic movements through
contiguous body parts.
Elementary implies that a single type of contraction of a muscle or group of
muscles is involved Clonic implies regular repetitive contractions.

15.22.1.2. Focal motor seizures with asymmetrical tonic motor signs

Characterized by an asymmetrical, sustained increase in muscle
contractions, causing, e.g. the child to adopt a fencing posture.
They are characteristic of those involving the supplementary motor areas
of the frontal lobes although they can arise from other frontal lobe regions
and from extrafrontal lobe sites.

15.22.1.3. Focal motor seizures with typical (temporal lobe)

automatisms
Occurs in mesial temporal lobe seizures.

15.22.1.4. Focal motor seizures with hyperkinetic automatisms

Such seizures usually imply a frontal lobe origin
Such as pedalling, thrashing and rocking movements.

15.22.1.5. Rarer seizure types

Focal negative myoclonus.
Seizures with inhibitory motor signs (implying a loss of muscle contraction
as in motor arrest).

15.22.2. Focal sensory seizures

Characterized by a perceptual experience not caused by appropriate
stimuli in the external world.

FOCAL SENSORY SEIZURES SUBTYPE INCLUDE

15.22.2.1. Focal sensory seizures with elementary sensory
symptoms
Here the term elementary is used to imply a single, unformed pheno-menon
involving one primary sensory modality, e.g. somatosensory (parietal lobe
seizures), visual (occipital lobe seizures), auditory, olfactory, gustatory, epigastric or cephalic.

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Pediatric Spots

15.22.2.2. Focal motor seizures with experiential sensory symptoms

These are characteristic of seizures involving the junction of the temporal,
parietal and occipital lobes.e.g.:

i. Affective symptoms (fear, depression, anger, etc.).

ii. Distortions of reality (dj vu, jamais vu).
iii. Feelings of depersonalization and formed illusionary or hallucinatory
events.

15.22.3. Gelastic seizures

Characterized by ictal laughter or giggling, usually without an appropriate
affective tone.
Such seizures often involve the hypothalamus.

15.22.4. Hemiclonic seizures

Characterized by rhythmical clonic jerking involving one side of the body.

15.22.5. Secondary, generalized seizures

Seizures whose onset is focal (e.g. motor or sensory) and then becomes
generalized, usually as a tonic-clonic seizure.

15.22.6. Autonomic seizures

Characterized by altered autonomic function (objective or subjective)
of any type (cardiovascular, pupillary, gastrointestinal, sudomotor,
vasomotor and thermoregularity) at seizure onset or in which all
manifestations are consistent with altered autonomic function.

15.23. Indications for Neuroimaging in Children with Headache

Indications for neuroimaging in children with headache
1. Features of cerebellar dysfuction: ataxia; nystagmus; intention tremor.
2. Features of increased intracranial pressure: papilledema; night or early
morning vomiting; large head.
3. New focal or new neurological deficits including recent squint.
4. Seizures and specially focal.
5. Personality change.
6. Deterioration of school work.

Neurology

15.24. Causes of Ataxia in Children

15.24.1. Metabolic causes of ataxia in children
1. Any cause of fat malabsorption
2. Neuronal ceroid lipofuscinosis (late infantile)
3. Abetalipoproteinemia
4. Vitamin E deficiency
5. Biotinidase deficiency
6. Mitochondrial cytopathies
7. Metachromatic leukodystrophy
8. Refsum disease
9. Organic acidemias
10. Sialidosis
11. Urea cycle disorders.

15.24.2. Acute/subacute causes of ataxia in children

1. Acute cerebellar ataxia
2. Acute labyrinthitis hydrocephalus
3. Posterior fossa tumor/space occupying lesion
4. Traumatic brain injury
5. Acute disseminated encephalomyelitis
6. Toxic/poisoning
7. Miller-Fisher syndrome
8. Nonconvulsive status
9. Postinfectious polyneuropathy
10. Acute labyrinthitis.

15.25. Transient Movement Disorders in Childhood

1. Benign paroxysmal torticollis of infancy
2. Benign myoclonus of the newborn
3. Benign myoclonus of infancy
4. Jitteriness
5. Transient paroxysmal dystonia of infancy
6. Spasmus nutans.

215

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Bibliography

1. http://www.emedicinehealth.com/migraine_headache/article_em.htm
2. http://www.medindia.net/patients/patientinfo/anosmia_causes.htm
3. http://www.medscape.com/viewarticle/504722
4. http://www.ncbi.nlm.nih.gov/pubmed/14679581
5. http://www.ncbi.nlm.nih.gov/pubmed/20345937
6. http://www.nidcd.nih.gov/health/voice/pages/speechandlanguage.aspx
7. www.foreverinmomgenes.com

CHAPTER

16

Oncology
16.1. Common Chemotherapeutic Agents; Mechanism of Action
and Toxicity
Drug

Mechanism of action

Toxicity

Antimetabolites
Methotrexate

Folic acid antagonist

6-MP

Inhibits purine synthesis

Ara-C

Inhibits DNA polymerase

Cyclophosphamide

Inhibits DNA synthesis

Myelosuppression

Alkylating agents
Hemorrhagic cystitis

Antibiotics
Doxorubicin
Daunorubicin

Cardiomyopathy
Binds to DNA

Bleomycin

Pulmonary fibrosis
Vinca alkaloids

Vincristine
Vinblastine

Inhibits microtubule formation

Peripheral neuropathy
Leukopenia

Enzymes
L-asparaginase

Depletes L-asparagine

Prednisone

Unknown

Pancreatitis, increased
glucose

Hormones
1. Cushing syndrome
2. Cataracts
3. Diabetes mellitus (DM)
4. Hypertension (HTN)
Other
Cisplatin

Inhibits DNA synthesis

{NON}
1. Nephrotoxic
2. Ototoxic
3. Neurotoxic

Etoposide (VP-16)

Topoisomerase inhibitor

Secondary leukemias

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Pediatric Spots

16.2. Some Conditions Predispose to AML

Trisomy 21
Diamond-Blackfan syndrome
Fanconi anemia
Bloom syndrome
Kostmann syndrome
Paroxysmal nocturnal hemoglobinuria
Neurofibromatosis.

16.3. Differences between Osteosarcoma and Ewing Sarcoma

Osteosarcoma

Ewing sarcoma

Race

All races

Caucasians

Age

Children and adolescents

Less than 10 years

Cell type

Spindle cell-producing osteoid

Undifferentiated, probably
neural

Site

Metaphyses of long bones

Diaphyses of long and flat

bones

Presentation

1. History of injury
2. Local pain/swelling

1. Fever
2. Local pain/swelling

X-ray
findings

Less commonly lytic, Sunburst

pattern

Lytic Onion skinning

16.4. The Most Common Signs and Symptoms of

Cancer in Children
Pallor, bruising, persistent fever or infection; pancytopenia.
Pain: Persistent and unexplained; metastasis, bone marrow malignancy
and primary bone tumor.
Headache with neurologic deficit.
Morning headache and vomiting; increased intracranial pressure.
Lymphadenopathy: Persistent and unexplained.
Abdominal mass.
Mass or persistent swelling.
Eye changes: Proptosis and white papillary reflex.

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219

16.5. Uncommon Signs and Symptoms of Cancer in Children

16.5.1. Uncommon signs and symptoms of cancer in children
related directly to tumor

Superior vena cava syndrome

Subcutaneous nodules
Leukemoid reaction
Myasthenia gravis
Heterochromia.

16.5.2. Uncommon signs and symptoms of cancer in children not

related directly to tumor

Chronic diarrhea
Polymyoclonus-opsoclonus
Failure to thrive
Cushing syndrome
Pseudomuscular dystrophy.

16.6. Oncologic Emergencies

16.6.1. Metabolic

Hyperuricemia
Hyperkalemia
Hyperphosphatemia
Hyponatremia
Hypercalcemia.

16.6.2. Hematologic

Anemia
Thrombocytopenia
Disseminated intravascular coagulation
Neutropenia
Hyperleukocytosis (> 50,000/mm3)
Graft versus host disease.

16.6.3. Space-occupying lesions

Spinal cord compression
Increased intracranial pressure

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Pediatric Spots

Superior vena cava syndrome

Tracheal compression.

16.7. Potential Long-term Sequelae of Childhood Cancer

1. Late recurrence of primary cancer.
2. Second malignancy.
3. Impairment of normal growth.
4. Endocrine dysfunction.
5. Infertility.
6. Educational and psychological dysfunction.
7. Other organ toxicity, e.g. cardiac, pulmonary.
8. Impairment of normal life, e.g. obtaining work, insurance, being allowed
to adopt children.

16.8. Categorical Etiological Factors for CNS Tumors

16.8.1. Heritable syndromes as etiological factors for CNS tumors
1. Neurofibromatosis (visual pathway tumors + gliomas)
2. Tuberous sclerosis (glial ependymomas)
3. Von Hippel-Lindau (cerebellar + retinal + pheochromocytomas).

16.8.2. Immunodeficiency (intracerebral lymphomas) as

etiological factors for CNS tumors specially
a. Postrenal transplantation
b. Wiskott-Aldrich
c. Ataxia telangiectasia.

16.9. The WHO Classification Hodgkins Lymphoma or

Hodgkins Disease (HD)
According to the WHO classification HD can be subdivided into four
subtypes
1. Lymphocyte predominance:

i. Reed-Sternberg cells may be quite scarce

ii. Fibrosis is rarely seen
iii. The prognosis is very good.
2. Mixed cellularity:

i. Reed-Sternberg cells are usually profuse (515 per high power field).

ii. Often with fine fibrosis and focal necrosis.

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221

3. Lymphocyte depletion:

i. Large abnormal mononuclear cells are often seen as well as ReedSternberg cells with few lymphocytes.

ii. Fibrosis and necrosis are common and often quite diffuse.
iii. This form is rarer in children.
4. Nodular sclerosis:

i. Lacunar cells are a characteristic finding with a thickened capsule
and bands which divide the tissue into nodules.

ii. This histology is specially common in lower cervical, supra-clavicular
and mediastinal HD of childhood.

16.10. Factors Predisposing to Childhood Leukemia

16.10.1. Genetic conditions predisposing to childhood leukemia
Down syndrome

Neurofibromatosis type I

Fanconi anemia

Ataxia-telangiectasia

Bloom syndrome

Severe combined immune

deficiency

Diamond-Blackfan anemia

Paroxysmal nocturnal
hemoglobinuria

Schwachman-Diamond syndrome

Li-Fraumeni syndrome

Kostmann syndrome

16.10.2. Environmental conditions predisposing to

childhood leukemia
Ionizing radiation

Nitrosourea

Drugs

Epipodophyllotoxin

Alkylating agents

Benzene exposure

Advanced maternal age (?)

16.11. French-American-British (FAB) Classification of Acute

Myelogenous Leukemia
Subtype

Common name

M0

Acute myeloblastic leukemia without differentiation

M1

Acute myeloblastic leukemia without maturation

M2

Acute myeloblastic leukemia with maturation

M3

Acute promyeloblastic leukemia

M4

Acute myelomonocytic leukemia

M5

Acute monocytic leukemia

M6

Erythroleukemia

M7

Acute megakaryocytic leukemia

Contd...

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Pediatric Spots

Contd...
Subtype

Common name

M3

Acute promyeloblastic leukemia

M4

Acute myelomonocytic leukemia

M5

Acute monocytic leukemia

M6

Erythroleukemia

M7

Acute megakaryocytic leukemia

16.12. Location of Childhood Brain Tumors within the Central

Nervous System
The relative frequency of brain tumor histologic types and the anatomic
distribution are shown:

Fig. 16.1: The relative frequency of brain tumor histologic

types and the anatomic distribution

Bibliography
1. https://www.caring4cancer.com/go/cancer/treatment/chemotherapy/
common-chemotherapy-drugs-and-side-effects.htm
2. http://www.medscape.com/viewarticle/453273
3. http://www.ncbi.nlm.nih.gov/books/NBK20928/
4. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1817663/
5. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC474028/
6. http://www.scielo.br/scielo.php?script=sci_arttext&pid
=S1807-59322006000200003
7. http://erc.endocrinology-journals.org/content/17/3/R141.full

CHAPTER

17

Ophthalmology
17.1. Useful Screening Questions for Older Children with
Perceptual Visual Difficulties Related to Central Nervous
System (CNS) Disease
Does the child have difficulty:
1. Identifying objects within a busy or fast-moving environment?
2. With coordination and movement in three-dimensional space?
3. Recognizing familiar faces?
4. With orientation in familiar environments?

17.2. Refractive Errors

17.2.1. Hypermetropia in infants
Most infants are slightly hypermetropic, which normally resolves by age 2
yearsemmetropization.

17.2.2. Hypermetropia
Hypermetropia present after the age of 2 years normally persists into adult
life.

17.2.3. Myopia is rare in young children

17.2.3.1. When high degrees of myopia do occur an underlying
disease such as
1.
2.
3.

Homocystinuria
Marfan syndrome
Stickler syndrome
should be considered.

17.2.4. Syndromes associated with hypermetropia or myopia

Lebers congenital amaurosis is often associated with hypermetropia
Marfan syndrome with myopia.

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Pediatric Spots

17.2.5. Signs and symptoms of refractive errors

Blurred vision is the most common symptom of refractive errors
Other symptoms may include the following:
1. Double vision
2. Haziness
3. Glare or halos around bright lights
4. Squinting
5. Headaches
6. Eye strain.

17.3. Causes of Cerebral Visual Impairment

17.3.1. Prenatal
Brain malformations
Intrauterine infections
Placental dysfunction.

17.3.2. Preterm neonatal

Preterm neonatal periventricular hemorrhage.

17.3.3. Perinatal

Neonatal asphyxia
Intracerebral hemorrhage
Meningitis
Encephalitis.

17.3.4. Postnatal
Trauma (accidental and nonaccidental)
Cardiac arrest.

17.4. Conditions that may Present with (Apparent) Concomitant

Strabismus
Retinoblastoma
Optic nerve hypoplasia
Optic atrophy:
Primary
Secondary to neoplasm.

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225

Unilateral cataract
Persistent fetal vasculature
VIth cranial nerve weakness.

17.5. Causes of True or Apparent VIth Nerve Weakness in Children

1.


2.
3.
4.

VIth cranial nerve paresis:

i. Raised intracranial pressure
ii. Brainstem glioma.
Moebius syndrome
Duanes syndrome
Esotropia (abduction is usually normal).

17.6. Mnemonic DWARF for Evaluation of Nystagmus

Nystagmus may be described using the mnemonic DWARF:
Direction (horizontal or vertical)
Wave form (jerk or pendular)
Amplitude (large amplitude or small amplitude oscillations)
Rest (primary position (at rest/gaze evoked))
Frequency (rapid movements or slow movements).

17.7. Causes of Sensory Congenital Nystagmus

Albinism
Lebers amaurosis
Aniridia
Optic nerve hypoplasia
Retinal cone dystrophy.

17.7.1. Albinism
Albinism refers to a group of conditions that may be divided into:
1. Oculocutaneous albinism (OCA)
2. Ocular albinism (OA).
The ocular abnormalities found are common to all forms of albinism
The ocular abnormalities include:
1. Defective iris and fundus pigmentation
2. Reduced vision and photophobia
3. Nystagmus
4. Strabismus
5. Delayed visual maturation

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Pediatric Spots

6. Foveal hypoplasia
7. Abnormal chiasmal crossing.
Most forms of OCA are autosomal recessive
Two rare forms of OCA are associated with systemic disease:
1. Chdiak-Higashi disease (increased susceptibility to infection).
2. Hermansky-Pudlak syndrome (frequent bruising due to platelet
dysfunction).

17.8. Causes of Acquired Nystagmus in Children

Suprasellar tumor
Posterior fossa tumor or malformation
Neurodegenerative diseases such as:
1. Battens disease
2. Neuroliposes
3. Peroxisomal disorders.

17.9. Ocular Defects that may Cause Bilateral

Congenital Blindness
17.9.1. Whole globe
1. Anophthalmos
2. Microphthalmos.

17.9.2. Cornea
1. Sclerocornea
2. Peters anomaly.

17.9.3. Lens
Cataract.

17.9.4. Retina
1.
2.
3.
4.
5.

Retinal detachment (e.g. following retinopathy of prematurity)

Retinal dysplasia (e.g. Norries disease)
Chorioretinal coloboma
Chorioretinitis scarring
Cherry red spot in storage diseases (e.g. Tay-Sachs disease).

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227

17.9.5. Optic atrophy

Prenatal:
1. Infection
2. Asphyxia
3. Cerebral malformations.
Perinatal:
1. Asphyxia.
Postnatal:
1. Meningitis/encephalitis
2. Compression (e.g. hydrocephalus and craniopharyngioma)
3. Genetic (e.g. autosomal dominant optic atrophy)
4. Secondry to retinal disease.

17.9.6. Optic nerve hypoplasia

Optic nerve hypoplasia is associated with maternal diabetes, maternal alcohol and drug abuse, maternal use of antiepileptic drugs, and young maternal
age (20 years of age or less), most cases of ONH have no clearly identifiable
cause.

17.9.7. Optic disk colobomas

The following conditions have been associated with optic disk coloboma:
1. Basal encephalocele.
2. Aicardi's syndrome.
3. CHARGE association (coloboma, heart defects, atresia choanae, retarded
growth and development, genital hypoplasia, ear anomaly and deafness).
4. Goltz's focal dermal hypoplasia.
5. Meckel's syndrome.
6. Warburg's syndrome.
Chromosome abnormalities such as trisomy 13 or 4p.

17.10. The Blind Infant with Apparently Normal Eyes

Delayed visual maturation

Cerebral visual impairment
Lebers congenital amaurosis
Retinal cone dystrophy
Optic nerve hypoplasia
Oculomotor praxia.

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17.11. Causes of Visual Loss in Children Evident on

Ophthalmic Examination
17.11.1. Cataract
Metabolic disease.

17.11.2. Retina
Retinal dystrophies
1. Rod-cone dystrophies
2. X-linked juvenile retinoschisis
3. Stargardts disease.

17.11.3. Optic atrophy

1. External compression:
Hydrocephalus tumor:

Craniopharyngioma other suprasellar tumors.
2. Intrinsic tumor:
Glioma:

Neurofibromatosis type I.
3. Retinal diseases
4. Genetic
Autosomal dominant optic atrophy.
5. Demyelinating diseases.

17.12. Congenital Ptosis

Classification of congenital ptosis
1. Aponeurotic

Disinsertion of aponeurosis

2. Myogenic

Localized dystrophy (most common)

Other muscle diseases (myotonic dystrophy)

3. Neurogenic

3rd nerve palsy

Horner's syndrome
Jaw-wink ptosis

4. Neuromyogenic

Myasthenia gravis

5. Mechanical

Lid tumors

6. Pseudoptosis

Microphthalmic eye, anophthalmos, phthisis bulbi

Hypotropia
Contralateral lid retraction
Contralateral proptosis

Ophthalmology

Fig. 17.1: Congenital ptosis

17.13. Causes of Congenital Cataracts

17.13.1. Inherited syndrome that cause congenital cataracts
Chromosomal:
Trisomy 21,13,18
Turners
Translocation 3;4 and 2;14
Cri du chat 5q15.2.
Mitochondrial diseases
Lowes oculocerebrorenal syndrome
Ectodermal dysplasia.

17.13.2. Metabolic diseases that cause congenital cataracts

Galactosemia
Galactokinase deficiency
Hypocalcemia
Hypoglycemia
Mannosidosis.

17.13.3. Prenatal infection that cause congenital cataracts

Rubella
Toxoplasma
Herpes simplex
Varicella.

17.13.4. Trauma that cause congenital cataracts

Accidental
Nonaccidental

229

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Pediatric Spots

Ocular associations
Microphthalmos
Aniridia
Persistent fetal vasculature
Peters anomaly
Endophthalmitis.

17.14. Abnormalities of the Optic Disk and Retina

17.14.1. Hypoplastic disk and optic nerve hypoplasia
The optic disk is anatomically very small in this case, with severely reduced
vision.

Fig. 17.2: Hypoplastic disk

17.14.2. Retinitis pigmentosa

Typical bone spicule pigmentation is seen in the midperiphery of the fundus.

Fig. 17.3: Retinitis pigmentosa

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231

17.14.3. Retinal cone dystrophy

With typical bulls eye pigmentation at the center of the macula.

Fig. 17.4: Retinal cone dystrophy

17.14.4. Severe papilledema with hemorrhages and exudates

Fig. 17.5: Severe papilledema

17.14.5. Optic disk drusen

Optic nerve drusen are abnormal globular collections of protein and calcium
salts which accumulate in the optic nerve and usually become visible after
the first decade of life. They occur in both eyes more often than just one.

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Pediatric Spots

Fig. 17.6: Optic disk drusen

17.14.6. Cherry red spot due to Tay-Sachs disease

Fig. 17.7: Cherry red spot

17 .14.7. Retinal hemorrhages related to leukemia

Fig. 17.8: Retinal hemorrhages

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233

17.14.8. Large multinodular retinal hamartoma adjacent to optic

disk in a case of tuberous sclerosis

Fig. 17.9: Large multinodular retinal hamartoma

17.15. Corneal Clouding

Corneal clouding develops in: (FM3)
1. Mucopolysaccharidoses, all of which show corneal clouding, except
MPSII and MPSIII.
2. Mucolipidoses.
3. Fucosidosis.
4. Mannosidosis.

17.16. Differential Diagnosis of Retinal Hemorrhages in an Infant

with Suspected Shaking Injury (Not Exhaustive)
1. Nonaccidental shaking injury
2. Accidental injury (severe trauma)
3. Leukemia
4. Coagulation disorders
5. Birth hemorrhages
6. Meningococcal meningitis
7. Glutaric aciduria type I
8. Severe papilledema with raised intracranial pressure
9. Copper deficiency
10. Meningococcal meningitis.

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Pediatric Spots

17.17. Ophthalmological Photos

1. Aniridia: No iris tissue is seen. There is fibrovascular pannus covering
the peripheral cornea in this case.

Fig. 17.10: Aniridia

2. Coloboma of the inferior iris.

Fig. 17.11: Coloboma of inferior iris

3. Iritis: The pupil has been dilated and adhesions between the iris and
lens (posterior synechiae) are seen.

Fig. 17.12: Iritis

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235

4. Congenital cataract: This is a partial, lamellar cataract with relatively

good vision. Surgery in infancy was not needed in this case.

Fig. 17.13: Congenital cataract

5. Subluxed lens.

Fig. 17.14: Subluxation of the lens

6. Reiger syndrome: Note posterior embryotoxon and abnormal pupil

shape and position (corectopia).

Fig. 17.15: Corectopia

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Pediatric Spots

7. Sturge-Weber syndrome: Note eyelid port wine stain, and abnormal

scleral blood vessels.

Fig. 17.16: Telangiectasia of the sclera

8. Lisch nodules of the iris: Multiple pigmented nodules are easily

visualized against the background of a lightly pigmented iris in this
case.

Fig. 17.17: Lisch nodules of the iris

9. Hyphema: Blood in the anterior chamber obscures the iris.

Fig. 17.18: Hyphema

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237

10. Retinoblastoma: Inspection for a red reflex (Bruckner test) in this child
revealed asymmetry with leukocoria (White pupil) of the right eye
secondary to retinoblastoma.

Fig. 17.19: Retinoblastoma

17.18. Stages of Papilledema (Frisen Scale)

A. Stage 0: Normal optic disk.

B. Stage 1: Very early papilledema

1. Obscuration of the nasal border of the disk
only.
2. Without elevation of the disk borders.

C.

Stage 2: Early papilledema

1. Obscuration of all borders
2. Elevation of the nasal border
3. Complete peripapillary halo.

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Pediatric Spots
D. Stage 3: Moderate papilledema
1. Elevation of all borders.
2. Increased diameter of the optic nerve
head.
3. Obscuration of vessels at the disk
margin.
4. Peripapillary halo with finger-like
extensions.

E. Stage 4: Marked papilledema

1. Elevation of the entire nerve head.
2. Total obscuration a segment of a major
blood vessel on the disk.

F.

Stage 5: Severe papilledema

1. Obscuration of all vessels.
2. Obliteration of the optic cup.
3. Nerve fiber layer hemorrhages and
macular exudate.

Figs 17.20A to F: Various stages of papilledema

(Courtesy: University of Rochester Eye Institute)

Bibliography
1. http://content.lib.utah.edu/utils/getfile/collection/EHSL-Moran-Neuro-opth/
id/140/filename/88.pdf
2. http://emedicine.medscape.com/article/1211159-overview
3. http://en.wikipedia.org/wiki/Lisch_nodule
4. http://health-7.com
5. http://imagebank.asrs.org
6. http://optometrist.com.au/children-cataracts/
7. http://webeye.ophth.uiowa.edu
8. http://webeye.ophth.uiowa.edu/eyeforum/cases-i/case114/DDX.html _
9. http://www.aapos.org/terms/conditions/82
10. http://www.aapos.org/terms/conditions/83

Ophthalmology

239

11. http://www.allaboutvision.com/conditions/congenital-cataracts.htm
12. http://www.beltina.org
13. http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php? cat3=2181
14. http://www.mrcophth.com/pd/oppticoa.html
15. http://www.nei.nih.gov/healthyeyestoolkit/factsheets/refractiveerrors.pdf
16. http://www.stlukeseye.com
17. http://www.varga.org/Physician%20Assistant%20Photos.htm
18. webeye.ophth.uiowa.edu
19. www.beautifulcanvas.org
20. www.lookfordiagnosis.com
21. www.willseye.org

CHAPTER

18

Orthopedic
18.1. Differential Diagnosis of Joint Pain in Children
18.1.1. Arthritis
1. Infective and reactive
2. Juvenile idiopathic arthritis
3. Other:

i. Autoimmune rheumatic disorders, e.g.

a. Systemic lupus erythematosus

b. Dermatomyositis.
ii. Vasculitis
iii. Miscellaneous.

18.1.2. Mechanical/degenerative
1. Trauma: Accidental and nonaccidental.
2. Hypermobility.
3. Avascular necrosis, osteochondritis and apophysitis, including Perthes,
Osgood-Schlatter and Scheuermann.
4. Slipped capital femoral epiphysis.
5. Anterior knee pain.

18.1.3. Nonorganic/idiopathic
1. Idiopathic pain syndromesLocalized and diffuse
2. Benign idiopathic limb pains (growing pains)
3. Psychogenic.

18.1.4. Other
1. Osteomyelitis.
2. Tumors:

i. Malignant: Leukemia and neuroblastoma

ii. Benign: Osteoid osteoma and pigmented villonodular synovitis.

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241

3. Metabolic abnormalities: Rickets, diabetes, hypophosphatemic rickets

and hypo/hyperthyroidism.
4. Genetic disorders: Skeletal dysplasias, mucopolysaccharidoses and
collagen disorders.

18.2. Hypermobility, Criteria Most Frequently Used to Define

The definition of hypermobility is based on clinical assessment. The criteria
most frequently used are those defined by Beighton which assess joint laxity
based on a number of clinical maneuvers:
1. Passive dorsiflexion of the 5th metacarpophalangeal joint to 90.
2. Apposition of the thumb to the flexor aspect of the forearm.
3. Hyperextension of the elbow to greater than 10.
4. Hyperextension of the knee to greater than 10.
5. Forward flexion of the trunk to place the palms of the hands flat on the
floor with the knees extended.

Figs 18.1A and B: Hypermobility: (A) Apposition of the thumb to the flexor aspect of the
forearm (B) Extension of the thumb

18.3. Inherited Syndromes with Significant Hypermobility

1.
2.
3.
4.

Ehlers-Danlos syndrome
Marfan syndrome
Osteogenesis imperfecta
Stickler syndrome.

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Pediatric Spots

18.4. Inherited Skeletal Dysplasias

1.
2.
3.
4.
5.

Spondyloepiphyseal dysplasia (SED)

Multiple epiphyseal dysplasia
Achondroplasia and hypochondroplasia
Trichorhinophalangeal dysplasia
Storage disorders: The mucopolysaccharidoses (MPS).

18.5. Differential Diagnosis of Inflammatory Arthritis in

Childhood
1. InfectionDifferential diagnosis include:

a. Acute septic arthritis

b. Viral arthritis

c. Reactive/postinfectious arthritis.
2. Juvenile idiopathic arthritis

a. The most common chronic rheumatologic disease in children

b. One of the most common chronic diseases of childhood

c. The etiology is unknown

d. The genetic component is complex.
3. Arthritis associated with inflammatory bowel disease: Inflammatory
bowel disease (IBD) refers to two disorders Crohn's disease and
ulcerative colitis arthritis associated with IBD.

a. Inflammation tends to involve only a few, large joints and it tends
not to involve both sides of the body equally.

b. Antibodies commonly found in the blood of people with rheumatoid
arthritis are not usually present in the blood of people with IBD
arthritis.

c. Unlike rheumatoid arthritis, arthritis associated with IBD may affect
the lower spine, specially the sacroiliac joints.

d. Is associated with a certain gene (called HLA-B27).
4. Other autoimmune rheumatic disorders

a. Systemic lupus erythematosus

b. Juvenile dermatomyositis

c. Systemic sclerosis

d. Mixed connective tissue disease.
5. Systemic vasculitis

a. Henoch-Schnlein purpura

b. Kawasaki disease

c. Polyarteritis nodosa.
6. Malignancy

a. Leukemia

b. Neuroblastoma.

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243

7. Hematological

a. Sickle cell anemia

b. Hemophilia.
8. Immune deficiency syndromes
9. Genetic disorders

a. Cystic fibrosis

b. Velocardiofacial syndrome

c. CINCA syndrome

d. Down syndrome

e. Stickler syndrome.
CINCA: Chronic infantile neurological cutaneous and articular
syndrome .
10. Drug reactions
11. Trauma including nonaccidental injury
12. Orthopedic

a. Perthes disease

b. Pigmented villonodular synovitis.
13. Miscellaneous

a. Sarcoidosis

b. SAPHO syndrome

c. Familial mediterranean fever.
SAPHO: Synovitis, acne, pustulosis, hyperostosis and osteitis
syndrome .

18.6. The Differential Diagnosis of Joint Pain in Children

18.6.1. Arthritis
Infective and reactive.
Juvenile idiopathic arthritis.
Other: Autoimmune rheumatic disorders (e.g. systemic
erythematosus and dermatomyositis); vasculitis; miscellaneous.

lupus

18.6.2. Mechanical/degenerative
Trauma: Accidental and nonaccidental.
Hypermobility.
Avascular necrosis, osteochondritis and apophysitis, including Perthes,
Osgood-Schlatter and Scheuermann.
Slipped capital femoral epiphysis.
Anterior knee pain.

18.6.3. Nonorganic/idiopathic
Idiopathic pain syndromesLocalized and diffuse
Benign idiopathic limb pains (growing pains)
Psychogenic.

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Pediatric Spots

18.6.4. Other

Osteomyelitis.
Malignant tumors: Leukemia and neuroblastoma.
Benign: Osteoid osteoma and pigmented villonodular synovitis.
Metabolic abnormalities: Rickets, diabetes, hypophosphatemic rickets
and hypo/hyperthyroidism.
Genetic disorders: Skeletal dysplasias, mucopolysaccharidoses and
collagen disorders.

18.7. Comparison of Synovial Fluid Analysis in Children with

Infective and Inflammatory Arthritis
Characteristic

Normal

Juvenile idiopathic
arthritis

Septic arthritis

Color

Yellow

Yellow

Serosanguinous

Clear

Cloudy

Clarity
WBC

count/mm3

PMN count (%)

< 200

1520

< 25

6075

Turbid
103

40300000 103
> 75

PMNPolymorphic neutrophil, WBCWhite blood cell

18.8. Psoriatic Arthritis

Psoriatic arthritis is defined as arthritis and psoriasis, or arthritis and at least
two of the following:
Dactylitis
Nail pitting and onycholysis
Psoriasis in a first-degree relative.

Fig. 18.2: Psoriatic arthritis

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245

18.9. Criteria for the Diagnosis of Rheumatic Fever

Modified Jones criteria for the diagnosis of rheumatic fever
Major criteria

Minor criteria

Polyarthritis (common): Flitting and large joints

Fever

Carditis (common): Pancarditis

Arthralgia

Chorea (Sydenham) (uncommon): Persistent

Prolonged P-R interval

Erythema marginatum (uncommon): Macules

evolving to serpiginous

Elevated ESR/CRP,
leukocytosis

Subcutaneous nodules (uncommon): Extensor

surfaces

Previous rheumatic fever

The diagnosis of rheumatic fever is made in the presence of either two major
criteria or one major plus two minor criteria together with evidence of recent
group A streptococcal infection:
i. Positive throat swab
ii. Elevated antistreptolysin O titer (ASOT)
iii. Other antistreptococcal antibodies.

18.10. Roles of Radiological Imaging in Juvenile

Idiopathic Arthritis (JIA)
18.10. 1. All imaging modalities may have a potential role in JIA
to
Aid diagnosisParticularly to exclude other musculoskeletal conditions.
Document and define evidence of joint damage.
Aid the assessment of complex joints, e.g. hip, subtalar, shoulder and
temporomandibular joints.
Detect subclinical or very early synovitisMagnetic resonance scanning
with gadolinium contrast is a very sensitive technique.
Distinguish synovitis from tenosynovitis.
Facilitate intra-articular steroid injection.

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Pediatric Spots

18.10. 2. Stages of radiographic changes are seen on plain

radiographs in JIA are 3
Early: Soft tissue swelling, e.g. blurring of the infrapatellar fat pad on lateral
knee radiograph and periarticular osteopenia.
Intermediate: Cortical erosions, joint space narrowing and subchondral
cysts.
Late: Destructive joint changes with ankylosis, joint contractures,
metaphyseal and diaphyseal changes and growth anomalies.

Plain radiographs in juvenile idiopathic arthritis: (A) Destructive changes of wrists with
crowding of carpal bones; periarticular osteopenia and loss of joint space at proximal
interphalangeal joints; (B) Fusion in block of posterior elements of C2C7
Fig. 18.3: Radiography for juvenile idiopathic arthritis

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247

18.11. Kawasaki Disease

Diagnostic criteria for Kawasaki disease
Fever persisting for at least 5 days plus four of the following features:
1. Changes in peripheral extremities or perineal area
2. Polymorphous exanthema
3. Bilateral conjunctival injection
4. Changes of lips and oral/pharyngeal mucosa
5. Cervical lymphadenopathy.
In the presence of confirmed coronary artery involvement and fever, less
than four of the remaining criteria are sufficient to make the diagnosis.

Figs 18.4A and B: Kawasaki disease. A: Typical erythematous groin rash with
peeling and B: Peeling of digits

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Pediatric Spots

Figs 18.5A to C: Kawasaki disease

18.12. Juvenile Dermatomyositis

Diagnostic criteria for Juvenile Dermatomyositis
Classic rash

Heliotrope rash of the eyelids

Gottron papules

Plus three of the following:

Weakness

Symmetric
Proximal

Muscle enzyme elevation (1)

Creatine kinase
Aspartate aminotransferase
Lactate dehydrogenase
aldolase

Electromyographic changes

Myopathy
Denervation

Muscle biopsy

Necrosis
Inflammation

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249

18.13. Systemic Lupus Erythematosus

1. Malar rash
2. Discoid rash
3. Photosensitivity
4. Serositis:

a. Pleuritis

b. Pericarditis.
5. Arthritis
6. Hematological disorders:

a. Hemolytic anemia

b. Leukopenia < 4 109/L (two or more occasions)

c. Lymphopenia < 1.5109/L (two or more occasions)

d. Thrombocytopenia < 100 109/L.
7. Immunological disorders:

a. Raised antinative DNA antibody binding

b. Anti-Sm antibody

c. Antiphospholipid antibodies:

i. Abnormal serum levels of IgG or IgM anticardiolipin antibodies.

ii. Positive test for lupus anticoagulant.

iii. False-positive serological test for syphilis present for at least 3
months.
8. Oral ulceration.
9. Renal disorder:

a. Proteinuria > 0.5 gm/24 hours

b. Cellular casts.
10. Neurological disorder:

a. Seizures

b. Psychosis (other causes excluded).
11. Antinuclear antibody present in raised titer.
A person shall be said to have SLE if four or more of the 11 criteria are present
(serially or simultaneously).

Bibliography

1. http://emedicine.medscape.com/article/1417215-overview
2. http://himho.com/kawasaki-disease
3. http://www.aafp.org/afp/2006/0701/p115.html
4. http://www.arthritis.org/conditions-treatments/disease-center/juvenile
arthritis
5. http://www.cdc.gov/arthritis/basics/childhood.htm
6. http://www.medicinenet.com/hypermobility_syndrome/article.htm

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Pediatric Spots

7. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1311464/
8. http://www.niams.nih.gov/Health_Info/Lupus/default.asp
9. http://www.pediatriconcall.com/m/doctor/DiseasesandCondition/
PEDIATRIC_CARDIOLOGY/diagnosis.asp
10. www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/
psoriaticarthritis.asp

CHAPTER

19

Otolaryngology
19.1. Facts about ENT
19.1.1. Facts about ears
1. 95% of traumatic tympanic membrane perforations will close
spontaneously and return to normal.
2. Acute otitis media is the most common cause of otalgia with fever in
children.
3. Postaural subperiosteal swelling with a protruding pinna is
pathognomonic of acute mastoiditis.
4. Otitis media with effusion is the most common cause of conductive
deafness in childhood.
5. Surgery for otitis media with effusion should only follow 3 months of
watchful waiting.
6. Significant bilateral sensorineural deafness has an incidence of one in
1000 live births.
7. Only about 50% of children with significant bilateral sensorineural loss
have an identifiable cause.
8. Early diagnosis of sensorineural deafness is vital for acquisition of
speech and language.
9. Only 50% of children with sensorineural deafness have an identifiable
cause.
10. Cochlear implants are only required for a very small number of
profoundly deaf children.

19.1.2. Facts about nose

1. Unilateral foul-smelling nasal discharge in a young child is pathognomonic
of a nasal foreign body.
2. Epistaxis in a child usually comes from Littles area at the front of the nose
and can be controlled by local pressure.
3. Periorbital infection often arises from infection of the ethmoid or frontal
sinuses and should be treated vigorously.
4. Gasping respiration in a neonate is suggestive of choanal atresia.

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Pediatric Spots

19.1.3. Facts about Tonsils

1. There is no good evidence that antibiotics for tonsillitis alter the course or
severity of the acute episode.

19.2. Causes of Sensorineural Deafness

19.2.1. Prenatal causes
19.2 .1.1. Hereditary causes
1.
2.
3.
4.
5.
6.
7.

Waardenburg syndrome
Klippel-Feil syndrome
Alport syndrome
Pendred syndrome
Refsum syndrome
Usher syndrome
Jervell and Lange-Nielsen syndrome.

19.2 .1.2. Nonhereditary causes

Maternal illness, specially in the first trimester of pregnancy:
1. Cytomegalovirus infections
2. Toxoplasmosis
3. Glandular fever
4. Rubella.
Ototoxic drugstaking during pregnancy:
1. Aminoglycosides
2. Quinine
3. Salicylates
4. Alcohol.

19.2.2. Perinatal causes

1. Prematurity
2. Hypoxia.

19.2.3. Postnatal causes

1. Head injury
2. Ototoxic drugs
3. Specific infections:
Measles
Mumps
Meningococcal or pneumococcal meningitis.

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253

19.3. Symptoms of Sensorineural Deafness

19.3.1. Sensorineural deafness is hearing loss that occurs from
damage to
1. The inner ear
2. Auditory nerve
3. The brain.

19.3.2. Symptoms may include

Certain sounds seem too loud

Difficulty following conversations when two or more people are talking
Difficulty hearing in noisy areas
Easier to hear men's voices than women's voices
Hard to tell high-pitched sounds (such as "s" or "th") from one another
Other people's voices sound mumbled or slurred
Problems hearing when there is background noise.

19.4. Common Causes of Stridor in Infants and Children

a.
b.



c.


d.



e.

Nose: Choanal atresia in newborn

Tongue:
i. Macroglossia due to cretinism
ii. Hemangioma or lymphangioma and dermoid at base of tongue
iii. Lingual thyroid.
Mandible
i. Micrognathia
ii. Pierre-Robin syndrome.
Pharynx
i. Congenital dermoid
ii. Adenotonsillar hypertrophy
iii. Retropharyngeal abscess and tumors.
Larynx
i. Congenital:
1. Laryngeal web
2. Laryngomalacia
3. Cysts
4. Vocal cord paralysis
5. Subglottic stenosis.
ii. Inflammatory:
1. Epiglottitis
2. Laryngotracheitis

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f.









g.

Pediatric Spots

3. Diphtheria
4. Tuberculosis.
iii. Neoplastic
1. Hemangioma
2. Juvenile multiple papillomas.
iv. Traumatic:
1. Injuries of larynx
2. Foreign bodies
3. Edema following endoscopy
4. Prolonged intubation.
v. Miscellaneous:
1. Tetanus
2. Tetany
3. Laryngismus stridulus.
vi. Neurogenic: Laryngeal paralysis due to acquired lesions.
Trachea and bronchi
i. Congenital:
1. Atresia
2. Stenosis
3. Tracheomalacia.
ii. Inflammatory: Tracheobronchitis.
iii. Traumatic:
1. Foreign body
2. Stenosis trachea.
iv. Neoplastic: Tumors of trachea.
Lesions outside respiratory tract
i. Congenital:
1. Vascular rings
2. Esophageal atresia
3. Tracheoesophageal fistula
4. Congenital goiter
5. Cystic hygroma.
ii. Inflammatory: Retropharyngeal and retroesophageal abscess.
iii. Traumatic: Foreign body esophagus.
iv. Tumors: Masses in neck.

Otolaryngology

255

19.5. Normal CT Scan for the Paranasal Sinuses

Ostiomeatal unit line drawing: Inferior turbinate (1) middle turbinate

(2) maxillary sinus (M), uncinate (U), ethmoidal bulla (B), mrontal sinus (F),
ethmoidal infundibulum (INF), nasal septum (NS) and middle meatus (*)
Fig. 19.1: CT scan of normal paranasal sinuses

Axial images of the anterior (ae) and posterior (pe) ethmoid air cells. The
sphenoid sinus (Sph) can be seen with its intersinus septum
Fig. 19.2: CT scan of normal paranasal sinuses

256

Pediatric Spots

Coronal view demonstrating well-pneumatized frontal sinuses (FS), the ethmoid

bulla (b), and the lamina papyracea (LP). Also of interest is the presence of
an aerated middle turbinate or concha bullosa (C) blocking the ostiomeatal
complex. The inferior turbinate is labeled IT
Fig. 19.3: Coronal view for the sinuses

19.6. Lateral Soft Tissue X-ray of a 4-year-old Boy

Showing enlarged adenoids occluding the postnasal airway (arrowed).

Fig. 19.4: Lateral soft X-ray

Otolaryngology

257

19.7. Adenoidectomy
19.7.1. Indications

Persistent mouth breathing.

Repeated or chronic otitis media with effusion.
Hyponasal speech.
Adenoid facies.
Persistent or recurrent nasopharyngitis when it seems to be temporarily
related to hypertrophied adenoid tissue.

19.7.2. Fact
Tonsillectomy is NOT performed for those above problems.

19.8. Tonsillectomy
19.8.1. Indications
Recurrent pharyngitis:
7 episodes in the past year
5 in each of the last 2 years
3 in each of the past 3 years.
Marked severe adenotonsillar hypertrophy
Severe sleep apnea.

19.8.2. Facts
Tonsillectomy does NOT help with preventing or treating acute or chronic
sinusitis or chronic otitis media.
Tonsillectomy does NOT help preventing UTIs.

19.9. Causes of Hoarseness in Children

The causes of hoarseness in children
1. Vocal nodules
2. Polyps of the larynx
3. Laryngeal papillomas
4. Unilateral vocal cord paralysis.

19.9.1. Laryngeal diagnoses of the causes of hoarseness in

children
1. Reflux laryngitis
2. True vocal fold nodules
3. Laryngomalacia.

258

Pediatric Spots

19.10. Complications of Tonsillitis

Peritonsillitis
Peritonsillar abscess (quinsy)
Airway obstruction
Rheumatic fever and glomerulonephritis.

19.10.1. Complications specific to group A -hemolytic

Streptococcus pyogenes (GABHS) pharyngitis

Scarlet fever
Rheumatic fever
Septic arthritis
Glomerulonephritis.

19.11. The Most Common Causes of Epistaxis in Children

19.11.1. Local causes

Epistaxis digitorum (nose picking)

Foreign bodies
Trauma including child abuse
Rhinitis
Chronic sinusitis.

19.11.2. Nasal causes

Intranasal neoplasm or polyps

Septal deviation
Septal perforation
Vascular malformation or telangiectasia.

19.11.3. Blood diseases

Hemophilia
Platelet dysfunction
Thrombocytopenia
Hypertension
Leukemia.

19.11.4. Other causes

Liver disease (e.g. cirrhosis).
Medications (e.g. aspirin, anticoagulants, nonsteroidal anti-inflammatory
drugs and topical corticosteroids).

Otolaryngology

259

19.12. Serous Otitis Media (Secretory Otitis Media)

19.12.1. Causes of serous otitis media
1. Malfunctioning of eustachian tube:

i. Adenoid hyperplasia

ii. Chronic rhinitis and sinusitis
iii. Chronic tonsillitis

iv. Palatal defects.
2. Allergy
3. Unresolved otitis media
4. Viral infections.

19.12.2. Symptoms of serous otitis media

i. Hearing loss
ii. Delayed and defective speech
iii. Mild earaches.

19.13. Predisposing Factors for Acute Suppurative Otitis Media

1. Recurrent attacks of common cold, upper respiratory tract infections and
exanthematous fevers like measles, diphtheria and whooping cough.
2. Infections of tonsils and adenoids.
3. Chronic rhinitis and sinusitis.
4. Nasal allergy.
5. Tumors of nasopharynx, packing of nose or nasopharynx for epistaxis.
6. Cleft palate.

Bibliography
1. http://earnosethroatclinic.blogspot.ae/2010/12/stridor-causes-anddifferential.html
2. http://emedicine.medscape.com/article/871977-clinical
3. http://emedicine.medscape.com/article/875244-overview#a16
4. http://oto.sagepub.com/
5. http://radiopaedia.org/articles/adenoids-1
6. http://www.emedicinehealth.com/nosebleeds/page2_em.htm#nosebleed_
causes
7. http://www.entusa.com/tonsillectomy_surgery.htm
8. http://www.medscape.com/viewarticle/433482
9. http://www.nlm.nih.gov/medlineplus/ency/article/003291.htm

CHAPTER

20

Respiratory Disorders
20.1. The AAP Guidelines for RSV Immunoprophylaxis for
High-risk Infants and Children
1. Infants and children <24 months with chronic lung disease of prematurity
who require medical therapy (e.g. diuretics oxygen) within 6 months
before the start of RSV season.
2. Infants born at <32 weeks gestation at the start of RSV season, those born
at 2932 weeks benefit most upto 6 months of age.
3. Infants born at <28 weeks gestation during the first months of life.
4. Children <24 months of age with hemodynamically significant cyanotic
and acyanotic congenital heart disease.
(NOT secundum ASD, small VSD, pulmonary stenosis, uncomplicated
aortic stenosis, PDA, mild coarctation, or those with more severe disease
who have been corrected and no longer require medication).
5. For those 3235 weeks of age and with one of the following:
Attends day care
Infant has a sibling <5 years of age.

20.2. Signs of Respiratory Distress in an Infant Older than 2

Months of Age

Tachypnea
Subcostal retractions
Cough
Crackles
Decreased breath sounds.

20.3. Tachypnea Thresholds based on AgeA Comparison

Age

Normal (breaths/minute)

Tachypnea (breaths/minute)

212 months

2540

50

15 years

2030

40

> 5 years

1525

20

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261

20.4. Recommendations of Chest X-ray for Chest Infection

Children under 5 years of age with fever and high WBCs of unknown
source.
There is clinical evidence of possible pneumonia, but the clinical findings
are not clear-cut.
Pleural effusion is suspected.
Pneumonia is unresponsive to antibiotics.

20.5. Side Effects of Systemic Corticosteroids

Suppression of the hypothalamic-pituitary-adrenal axis

Osteoporosis
Cataracts
Hypoglycemia
Weight gain
Thinning of the skin
Striae
Growth retardation.

20.6. Problems that may be Caused by the Usage

of Inhaled Steroids
Growth velocity changes.
Dermal thinning and increased ease of skin bruising.
Rarely cataracts may form and hypothalamic-pituitaryAdrenal axis
function may be affected.
Oral candidiasis (thrush) is common.

20.7. Risk Factors for Poor Prognosis in Drowning and

Submersion Events Include

Submersion >10 minutes

>10 minutes elapsed before life support is begun at the scene
Resuscitation takes >25 minutes
Age <3 years
Water temperature >10C (50F).

20.8. Reasons to Consider Sweat Test

20.8.1. GI pearls for testing
Meconium ileus
Rectal prolapsed

262

Pediatric Spots

Prolonged neonatal jaundice

Chronic diarrhea
Steatorrhea.

20.8.2. Respiratory pearls for testing

Nasal polyps
Pansinusitis
Chronic cough
Recurrent wheezing
Staphylococcus aureus pneumonia
Finding Pseudomonas in throat, sputum, or bronchus cultures.

20.8.3. Miscellaneous pearls for testing

Digital clubbing
Family history of cystic fibrosis (CF)
Failure to thrive (FTT)
My baby tastes salty
Male infertility.

20.9. Hemoptysis in Children

20.9.1. The most common etiologies in children are
Infection
Foreign bodies
Bronchiectasis.

20.9.2. Rare causes include

Vascularitides:

Neoplasm

HSP

AV malformation

Wegeners

Hemangioma

Goodpastures

Trauma

SLE

Pulmonary embolism

Congenital heart and lung defects

Idiopathic

20.10. Sarcoidosis
20.10.1. Indications for systemic corticosteroids in sarcoidosis
Eyes involvement
Heart conduction abnormalities

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263

CNS involvement
Severe pulmonary symptoms
Severe skin lesions
Persistent hypercalcemia.

20.10.2. Radiological staging of sarcoidosis

Stage

Chest X-ray findings

Clear

Bilateral hilar adenopathy

II

Adenopathy + parenchymal infiltrates

III

Diffuse parenchymal infiltrates

IV

Fibrosis, bullae and cavities

20.10.3. Facts concerning sarcoidosis

Erythema nodosum is an associated skin lesion that denotes a good
prognosis.
Corticosteroids have not been proven to induce remissions in sarcoidosis,
although they do decrease the symptoms and pulmonary function tests.

20.10.4. Dermatologic manifestations of sarcoidosis

Dermatologic manifestations may include the following:
Erythema nodosum.
A lower-extremity panniculitis with painful, erythematous nodules (often
with Lfgren syndrome).
Lupus pernio (the most specific associated cutaneous lesion).
Violaceous rash on the cheeks or nose (common).
Maculopapular plaques (uncommon).

20.10.5. Laboratory evaluation of sarcoidosis

Routine laboratory evaluation is often unrevealing, but possible abnormalities
include the following:
Hypercalcemia (about 1013% of patients)
Hypercalciuria (about a third of patients)
Elevated alkaline phosphatase level
Elevated angiotensin-converting enzyme (ACE) levels.

264

Pediatric Spots

20.11. Conditions Predisposing to Aspiration

Lung Injury in Children
20.11.1. Anatomical and mechanical conditions
Tracheoesophageal fistula

Esophageal foreign body

Laryngeal cleft

Tracheostomy

Vascular ring

Endotracheal tube

Cleft palate

Nasoenteric tube

Micrognathia

Collagen vascular disease (scleroderma

and dermatomyositis)

Macroglossia

Gastroesophageal reflux disease

Achalasia

Obesity

20.11.2. Neuromuscular conditions

Altered consciousness

Muscular dystrophy

Immaturity of swallowing/prematurity

Myasthenia gravis

Dysautonomia

Guillain-Barr syndrome

Increased intracranial pressure

Werdnig-Hoffmann disease

Hydrocephalus

Ataxia-telangiectasia

Vocal cord paralysis

Cerebral vascular accident

Cerebral palsy

20.11.3. Miscellaneous
Poor oral hygiene

Poor feeding techniques (bottle propping,

overfeeding, inappropriate foods for toddlers)

Gingivitis

Bronchopulmonary dysplasia

Prolonged hospitalization

Viral infection

Gastric outlet or intestinal obstruction

Respiratory Disorders

20.12. Finger Clubbing

Fig. 20.1: Finger clubbing

20.12.1. Nonpulmonary diseases associated with clubbing

20.12.1.1. Cardiac diseases
1. Cyanotic congenital heart disease
2. Subacute bacterial endocarditis
3. Chronic congestive heart failure.

20.12.1.2. Hematological diseases

1. Thalassemia
2. Congenital methemoglobinemia (rare).

20.12.1.3. Gastrointestinal diseases

1.
2.
3.
4.
5.
6.

Ulcerative colitis
Chronic dysentery and sprue
Polyposis coli
Severe gastrointestinal hemorrhage
Small bowel lymphoma
Liver cirrhosis (including 1-antitrypsin deficiency).

20.12.1.4. Other diseases

1.
2.
3.
4.
5.

Thyroid deficiency (thyroid acropachy)

Chronic pyelonephritis (rare)
Toxic (e.g. arsenic, mercury and beryllium)
Lymphomatoid granulomatosis
Fabry disease
Raynaud disease and scleroderma.

265

266

Pediatric Spots

20.13. Spirogram Showing Lung Volumes and Capacities

FEV1.0 is the maximum volume exhaled in 1 sec after maximum inspiration, FEV,
forced expiratory volume
Fig. 20.2: Spirogram

Restrictive diseases are usually associated with decreased lung volumes

and capacities.
Intrathoracic airway obstruction is associated with air trapping and
abnormally high functional residual capacity and residual volume.
FEV1.0 and vital capacity are decreased in both restrictive and obstructive
diseases.
The ratio of FEV1.0 to vital capacity is normal in restrictive disease but
decreased in obstructive disease.

20.14. Pulmonary Function Testing

20.14.1. Pulmonary function testing, although rarely resulting in
a diagnosis, is helpful in
1. Defining the type of process (obstruction and restriction) and the degree
of functional impairment.
2. Following the course and treatment of disease.
3. Estimating the prognosis.
4. Preoperative evaluation.
5. Confirmation of functional impairment in patients having subjective
complaints but a normal physical examination.

20.14.2. Spirometer and pulmonary function

A spirometer is used to measure:

i. VC and its subdivisions

ii. Expiratory (or inspiratory) flow rates.

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267

Flow rates measured by spirometry usually include

i. FEV1

ii. Maximal midexpiratory flow rate.

20.14.3. Restrictive diseases and pulmonary function

Restrictive diseases typically decrease

i. Total lung capacity (TLC)

ii. Vital capacity (VC).

20.14.4. Obstructive diseases and pulmonary function

i. Increase residual volume and FRC.
ii. Peak expiratory flow is reduced in advanced obstructive disease.
iii. The forced expiratory volume in 1 sec (FEV1) correlates well with the
severity of obstructive diseases.
iv. Maximal midexpiratory flow rate, the average flow during the middle
50% of the forced vital capacity (FVC), is a more reliable indicator of
mild airway obstruction.
v. The flow rate at 25% VC (V25) is a useful index of small airway function.

20.15. The Most Common Causes of Epistaxis in Children

1.
2.
3.
4.

Epistaxis digitorum (nose picking).

Trauma including child abuse.
Foreign bodies.
Medications (e.g. aspirin, anticoagulants, nonsteroidal anti-inflammatory
drugs).
5. Hypertension.
6. Thrombocytopenia.

20.16. Condition that can Mimic the Common Cold

Condition

Differentiating features

Allergic rhinitis

Prominent itching and sneezing

Nasal eosinophils

Foreign body

Unilateral, foul-smelling secretions

Bloody nasal secretions

Sinusitis

Presence of fever, headache or facial pain, or periorbital

edema or persistence of rhinorrhea or cough for >14 days

Contd...

268

Pediatric Spots

Contd...
Condition

Differentiating features

Streptococcosis

Mucopurulent nasal discharge that excoriates the nares

Pertussis

Onset of persistent or severe cough

Congenital syphilis Persistent rhinorrhea with onset in the 1st 3 months of life

20.17. Exercise-induced Bronchospasm

20.17.1. Sport activities that less likely than others to trigger
exercise-induced bronchospasm
According to the American Academy of Allergy, Asthma and Immunology
(AAAAI); Certain activities may be less likely than others to trigger exerciseinduced bronchospasm:
Swimming
Walking
Bike riding
Hiking.

20.17.2. Symptoms of exercise-induced bronchospasm

Shortness of breath or wheezing

Decreased exercise endurance
Chest pain or tightness with exercise
Cough
Upset stomach or stomachache
Sore throat.

20.18. Lung Function Abnormalities in Asthma

Spirometry (in clinic):
Airflow limitation:
Low FEV1 (relative to percentage of predicted norms)
FEV1/FVC ratio <0.80
Bronchodilator response (to inhaled a-agonist):
Improvement in FEV1 12% and 200 mL*
Exercise challenge:
Worsening in FEV1 15%*
Daily peak flow or FEV1 monitoring: day to day and/or AM-to-PM variation
20%*
*Main criteria consistent with asthma
FEV1, forced expiratory volume in 1 sec; FVC and forced vital capacity

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269

20.19. Lung Function Patterns (For Spirometry)

Setting

Vital
capacity

Peak
flow

Poor effort/
weakness

Reduced

Mild asthma/cystic
fibrosis
Severe asthma/
cystic fibrosis

FEV1/
FVC

MEF50

MIF50

Reduced Normal

Normal

Reduced

Normal

Normal

Reduced

Normal

Reduced

Reduced Reduced

Reduced

Normal

Normal

20.20. Congenital Central Hypoventilation Syndrome (CCHS)

The clinical and physiological diagnosis of CCHS has been considered to
require the following criteria
1. Persistent evidence of hypoventilation during sleep
[PaCO2 > 60 mmHg (8 kPa)].
2. Onset of symptoms usually in the first year after birth.
3. Absence of primary pulmonary or neuromuscular disease.
4. No evidence of primary heart disease.

20.21. Factors Suggesting Need for Hospitalization of Children

with Pneumonia
1. Age<6 months.
2. Sickle cell anemia with acute chest syndrome.
3. Multiple lobe involvement.
4. Immunocompromised state.
5. Toxic appearance.
6. Moderate to severe respiratory distress.
7. Requirement for supplemental oxygen.
8. Dehydration.
9. Vomiting or inability to tolerate oral fluids or medications.
10. No response to appropriate oral antibiotic therapy

11. Social factors (e.g. inability of caregivers to administer medications at

home or follow up appropriately).

270

Pediatric Spots

20.22. Differentiation of Pleural Fluid

Transudate

Empyema

Clear

Cloudy or purulent

<1000

Often >50,000 (cell count

has limited predictive value)

Cell type

Lymphocytes,
monocytes

Polymorphonuclear
leukocytes (neutrophils)

Lactate dehydrogenase

< 200 U/L

> 1000 U/L

Appearance
Cell count (per

mm3)

Pleural fluid/serum LDH < 0.6

ratio

> 0.6

Protein >3 gm

Unusual

Common

Pleural fluid/serum
protein ratio

< 0.5

> 0.5

Glucose

Normal

Low (< 40 mg/dL)

pH

Normal (7.407.60)

< 7.10

Gram stain

Negative

Occasionally positive (less

than one-third of cases)

20.23. Low Glucose or pH in Pleural Fluid

Pleural fluid with low glucose or pH may be seen in:
Malignant effusion
Tuberculosis
Esophageal rupture
Pancreatitis (positive pleural amylase)
Rheumatologic diseases (e.g. systemic lupus erythematosus).

20.24. Causes of Spontaneous Pneumothorax

20.24.1. Conditions associated with increased
intrathoracic pressure

Asthma
Bronchiolitis
Air-block syndrome in neonates
Cystic fibrosis
Airway foreign body.

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271

20.24.2. Congenital lung disease

Congenital cystic adenomatoid malformation
Bronchogenic cysts
Pulmonary hypoplasia.

20.24.3. Infection
Pneumatocele
Lung abscess
Bronchopleural fistula.

20.24.4. Diffuse lung disease

Langerhans cell histiocytosis

Tuberous sclerosis
Marfan syndrome
Ehlers-Danlos syndrome.

20.24.5. Other conditions

Primary idiopathicUsually resulting from ruptured subpleural blebs
Secondary blebs
Metastatic neoplasmUsually osteosarcoma (rare).

20.25. Cystic Fibrosis

20.25.1. Respiratory symptoms may include the following

Cough
Recurrent wheezing
Recurrent pneumonia
Atypical asthma
Dyspnea on exertion
Chest pain.

20.25.2. Gastrointestinal (GI) symptoms may include

Meconium ileus
Abdominal distension
Intestinal obstruction
Increased frequency of stools
Failure to thrive (despite adequate appetite)
Flatulence or foul-smelling flatus and steatorrhea
Recurrent abdominal pain

272

Pediatric Spots

Jaundice
GI bleeding.

20.25.3. Genitourinary symptoms may include the following

Undescended testicles or hydrocele
Delayed secondary sexual development
Amenorrhea.

20.25.4. Pulmonary complications

Bronchiectasis
Atelectasis
Pneumothorax
Hemoptysis
Hypertrophic pulmonary osteoarthropathy
Allergic bronchopulmonary aspergillosis (ABPA)
Pulmonary hypertension
Cor pulmonale
End-stage lung disease.

20.25.5. Gastrointestinal complications

Gastroesophageal reflux
Meconium ileus
Distal intestinal obstruction syndrome
Rectal prolapse.

20.25.6. Liver and pancreatic complications

Fatty liver
Focal biliary cirrhosis
Portal hypertension
Liver failure
Cholecystitis and cholelithiasis
Pancreatitis.

20.25.7. Metabolic complications

Vitamin deficiency (specially fat-soluble vitamins)

Rickets
Osteoporosis
Cystic fibrosis-related diabetes mellitus.

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273

20.25.8. Nasal complications

Nasal polyps.
Chronic and persistent sinusitis with complications such as mucopyocele
formation.

Bibliography

1. http://bentollenaar.com/_MM_Book/Ch.22.htm
2. http://emedicine.medscape.com/article/1001602-workup
3. http://emedicine.medscape.com/article/301914-overview
4. http://learnpediatrics.com/body-systems/respiratory-system/approach-topediatric-hemoptysis/
5. http://studynursing.blogspot.ae/2009/10/pulmonary-symptoms.html
6. http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/
pulmonary/pulmonary-function-testing/
7. http://www.webmd.com/lung/arthritis-sarcoidosis

CHAPTER

21

Rheumatology
21.1. Criteria for Diagnosis of Systemic Lupus
Erythematosus (SLE)
Note: Must have at least 4 of 11.
1. Malar rash
2. Discoid rash
3. Photosensitivity
4. Oral ulcers
5. Arthritis
6. Serositis:

i. Pleuritis

ii. Pericarditis.
7. Renal disorder:

i. Proteinuria

ii. Cellular casts.
8. Neurologic disorder:

i. Seizures

ii. Psychosis.
9. Hematologic disorder:

i. Hemolytic anemia

ii. Leukopenia

iii. Lymphopenia

iv. Thrombocytopenia.
10. Immunologic disorder:

i. Positive antiphospholipid ab

ii. Anti-DNA ab

iii. AntiSmith

iv. False-positive syphilis test.
11. Antinuclear antibody.

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275

21.2. Common Presentation of Neonatal Lupus Erythematosus

Rash
Cytopenias
Hepatitis
Most importantly and congenital complete heart block.

21.3. Diagnosis of Juvenile Dermatomyositis

Presence of Heliotrope or Gottron Papules is required
Plus at least 3 of the following 4 findings = Definite diagnosis
Plus at least 2 of the following 4 findings = Probable diagnosis.

Figs 21.1A and B: Juvenile dermatomyositis

1.
2.
3.



4.

Symmetric proximal muscle

Elevated CPK, aldolase, LDH or transaminases
EMG abnormalities:
a. Small amplitude, short duration and polyphasic motor-unit
potentials.
b. Fibrillations, positive sharp waves, increased insertional irritability.
c. Spontaneous, bizarre high-frequency discharges.
Muscle biopsy abnormalities of:
a. Degeneration
b. Regeneration
c. Necrosis
d. Phagocytosis
e. Interstitial mononuclear cell infiltrate.

276

Pediatric Spots

21.4. Kawasaki Disease

A clinical diagnosis requires fever for at least 5 days and a minimum of 4 of 5
findings:
1. Bilateral conjunctivitis injection without exudates.
2. Rash-usually macular, polymorphous with no vesicles, scaling or crusting
in character on trunk and frequently more prominent in the perineal area
later in the course, followed by desquamation of this area.
3. Changes in lips and oral cavityRed pharynx, dry fissured lips, or injected
and strawberry tongue.
4. Changes in the peripheral extremitiesEdema or redness of the hands/
feet and later, desquamation of the fingers/toes.
5. Cervical lymphadenopathyUsually nonfluctuant with one node
required to be at least 1.5 cm in diameter.

21.5. Systemic Juvenile Idiopathic Arthritis

21.5.1. Poor prognostic indicators (36 months) of juvenile
idiopathic arthritis
1. Persistent fever
2. Steroid dependency
3. Thrombocytosis
4. Polyarthritis
5. Hip disease
6. Early joint damage.

21.5.2. High-spiking intermittent fever in systemic juvenile

idiopathic arthritis

Fig. 21.2: Graph of fever in systemic juvenile idiopathic arthritis

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277

21.6. Characteristics Differentiation of the Spondyloarthritides

Characteristic

Juvenile
ankylosing
spondylitis

Juvenile
psoriatic
arthritis

Inflammatory
bowel
disease

Reactive
arthritis

Enthesitis

+++

++

Axial arthritis

+++

++

++

Peripheral arthritis

+++

+++

+++

+++

HLA-B27 positive

+++

+++

+++

Antinuclear
antibody positive

++

Rheumatoid factor
positive

Eyes

Skin

Mucous
membranes

Gastrointestinal
tract

++++

++++

Systemic disease:

Frequency of characteristics:
: absent; + :<25%; ++: 2550%; +++: 5075%, ++++: 75% or more

21.7. Viruses Associated with Arthritis

21.7.1. Herpesviruses
1. Epstein-Barr
2. Cytomegalovirus
3. Varicella zoster
4. Herpes simplex.

21.7.2. Enteroviruses
1. Echovirus
2. Coxsackievirus B.

21.7.3. Hepadnavirus
Hepatitis B.

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Pediatric Spots

21.7.4. Paramyxoviruses
Mumps.

21.7.5. Adenoviruses
Adenovirus 7.

21.7.6. Orthopoxviruses
1. Variola virus (smallpox)
2. Vaccinia virus.

21.7.7. Togaviruses
21.7.7.1. Rubivirus
Rubella.

21.7.7.2. -viruses
1. Ross river
2. Chikungunya
3. Onyong-nyong
4. Mayaro
5. Sindbis
6. Ockelbo
7. Pogosta.

21.7.8. Parvoviruses
21.8. Morbidity in Childhood Lupus
System

Morbidity

Renal

Hypertension, dialysis and transplantation

Central nervous
system

Organic brain syndrome, seizures, psychosis and

neurocognitive dysfunction

Cardiovascular

Atherosclerosis, myocardial infarction, cardiomyopathy and

valvular disease

Immune

Recurrent infection, functional asplenia and malignancy

Musculoskeletal

Osteopenia, compression fractures and osteonecrosis

Ocular

Cataracts and glaucoma

Endocrine

Diabetes, obesity, growth failure, infertility and fetal wastage

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279

21.9. Definition of Arthritis

Arthritis is defined by intra-articular swelling or the presence of 2 or more of
the following signs:
1. Limitation in range of motion
2. Tenderness or pain on motion
3. Increased heat or erythema.

21.10. Arthralgias without Physical Findings for Arthritis

Arthralgias without physical findings for arthritis suggest:
1. Infection
2. Malignancy
3. Orthopedic conditions
4. Benign syndromes, or pain syndromes such as fibromyalgia.

21.11. Arthritis as a Presenting Manifestation of Multisystem

Rheumatic Diseases of Childhood
1. Systemic lupus erythematosus
2. Juvenile dermatomyositis
3. Sarcoidosis
4. Vasculitic syndromes.

21.12. Symptoms Characteristic of Inflammatory Back Pain

1.
2.
3.
4.

Pain at night with morning stiffness

No improvement with rest
Improvement with exercise
Insidious onset.

21.13. Reactive Arthritis

Reactive arthritis typically follows:
i. Enteric infection with:
1.
Salmonella
2.
Shigella
3.
Yersinia enterocolitica
4.
Campylobacter jejuni
5.
Cryptosporidium parvum
6.
Giardia intestinalis.
ii. Genitourinary tract infection with:
1.
Chlamydia trachomatis
2.
Ureaplasma.

280

Pediatric Spots

21.14. Drug-induced Lupus

21.14.1. Definit association
1. Adalimumab
2. Chlorpromazine
3. Etanercept
4. Diltiazem
5. Hydralazine
6. Infliximab, interferon and isoniazid
7. Methyldopa and minocycline
8. Penicillamine and procainamide.

21.14.2. Probable association

1. Amiodarone
2. -blockers
3. Captopril and carbamazepine
4. Docetaxel
5. Ethosuximide
6. Gemfibrozil, glyburide, gold and griseofulvin
7. Hydrochlorothiazide
8. Interferon-g
9. Lithium
10. Nitrofurantoin
11. Penicillin, phenytoin and propylthiouracil
12. Quinidine
13. Rifampin
14. Statins and sulfasalazine
15. Tetracycline
16. Valproate.

21.14.3. Facts about drug-induced lupus

1. These agents may act as a trigger for true SLE.
2. These agents provoke a reversible lupus-like syndrome.
3. Drug-induced lupus affects males and females equally.
4. An inherited predisposition toward slow acetylation may increase the risk
of drug-induced lupus.

Rheumatology

281

5. Circulating antihistone antibodies are often present in drug-induced SLE,

and these antibodies are detected in upto 20% of individuals with SLE.
6. Hepatitis, which is rare in SLE, is more common in drug-induced lupus.
7. Individuals with drug-induced lupus are less likely to demonstrate:

i. Antibodies to double-stranded DNA
ii. Hypocomplementemia
iii. Significant renal or neurologic disease.
8. Manifestations of drug-induced lupus resolve after withdrawal of the
offending medication.
9. Complete recovery may take several months to years.

21.15. The Screening Musculoskeletal Examination in a Child

1. Extend the arms straight out in front then make a fist.
2. Place palms and fingers together with wrists extended to 90: Prayer
position.
3. Raise arms straight above the head.
4. Turn neck to look over each shoulder.
5. Walk normally, on tip-toe and on the heels.
6. Sit cross-legged on the floor then jump up.
A child who can perform all these actions without difficulty is unlikely to have
a significant musculoskeletal problem.

21.16. Causes of Migratory Arthritis

1. Gonococcal arthritis
2. Rheumatic fever
3. Sarcoidosis
4. Systemic lupus erythematosus
5. Lyme disease
6. Bacterial endocarditis
7. Whipple's disease.

21.17. Causes of Polyarthritis

21.17.1. Causes of symmetric polyarthritis
1. Rheumatoid arthritis
2. Systemic lupus erythematosus
3. Psoriatic arthritis
4. Osteoarthritis
5. Scleroderma

282

Pediatric Spots

6. Lyme disease
7. Rheumatic fever
8. Gouty arthritis
9. Pseudogout
10. Liver disease.

21.17.2. Causes of asymmetric polyarthritis

1. Spondyloarthropathy (HLA-B27 disease)

i. Psoriatic arthritis

ii. Ankylosing spondylitis
iii. Reactive arthritis
iv. Inflammatory bowel disease.
2. Gouty arthritis
3. Pseudogout
4. Lyme disease
5. Viral arthritis.

21.18. Henoch-Schnlein Purpura (HSP)

21.18.1. HSP symptoms
Symptoms: Classic triad (beyond rash, triad is not uniformly present)
1. Palpable purpuric rash on lower extremities
2. Abdominal pain or renal involvement (nephritis)
3. Arthritis.

21.18.2. HSP signs

1.
2.
3.
4.

Rash (100% of cases)

Abdominal pain (6080% of cases)
Joint involvement (70% of cases)
Renal disease (2550% of cases).

21.18.3. HSP complications (more common in adults)

21.18.3.1. Cardiopulmonary conditions
1. Myocardial infarction
2. Pulmonary hemorrhage
3. Pleural effusion.

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283

21.18.3.2. Gastrointestinal conditions

1. Intussusception (mural hematoma is lead point) in 5% of cases
2. Gastrointestinal bleeding
3. Bowel infarction.

21.18.3.3. Neurologic conditions

1. Seizures
2. Mononeuropathies.

21.18.3.4. Renal disorders

1. Crescentic glomerulonephritis
2. Renal failure
3. Hematuria
4. Proteinuria.

21.18.3.5. Male genitourinary conditions

1. Orchitis
2. Testicular torsion.

Bibliography

1. http://emedicine.medscape.com/article/1006582-medication
2. http://www.fpnotebook.com/HemeOnc/Derm/HnchSchnlnPrpr.htm
3. http://www.fpnotebook.com/Rheum/joint/PlyrtclrArthrts.htm
4. http://www.medicinenet.com/kawasaki_disease/article.htm
5. http://www.rheumatology.org/Practice/Clinical/Patients/Diseases_And_
Conditions/Dermatomyositis_%28Juvenile%29/
6. http://www.the-rheumatologist.org/details/article/2041587/Systemic_
Juvenile_Idiopathic_Arthritis.html

CHAPTER

22

Pediatric Mnemonics
22.1. APGAR Score Components
APGAR:
Appearance: CyanosisPeripheral, central and none
Pulse: Pulse rate
Grimace: Response to stimulation
Activity: Movement of the baby (muscle tone)
Respiration: Respiratory rate.

22.2. Autistic Disorder: Features

AUTISTICS:
Again and again (repetitive behavior)
Unusual abilities
Talking (language) delay
IQ subnormal
Social development poor
Three years onset
Inherited component [35% concordance]
Cognitive impairment
Self-injury.

22.3. Breastfeeding: Contraindicated Drugs

BREAST:
Bromocriptine/Benzodiazepines
Radioactive isotopes/Rizatriptan
Ergotamine/Ethosuximide
Amiodarone/Amphetamines
Stimulant laxatives/Sex hormones
Tetracycline/Tretinoin.

Pediatric Mnemonics

285

22.4. Branches of Facial Nerve

Ten Zebras Beat My Cock
Temporal, Zygomatic, Buccal, Mandibular and Cervical.

22.5. Cyanotic Congenital Heart Diseases

5 T's:
Truncus arteriosus
Transposition of the great arteries
Tricuspid atresia
Tetralogy of Fallot
Total anomalous pulmonary venous return.

22.6. ECG: T Wave Inversion Causes

INVERT:
Ischemia
Normality [specially young and black]
Ventricular hypertrophy
Ectopic foci [e.g. calcified plaques]
RBBB and LBBB
Treatments [digoxin].

22.7. Innocent Murmurs

S3LAC:
Soft
Systolic
Short
Left sternal age
Asymptomatic
Change with posture.

22.8. Meckels Diverticulum-Rule of 2s

2 inches long
2 feet from the ileocecal valve
2% of the population
Commonly presents in the first 2 years of life may contain 2 types of epithelial
tissue.

286

Pediatric Spots

22.9. Murmurs: Questions to Ask

SCRIPT:
Site
Character (e.g. harsh, soft, blowing)
Radiation
Intensity
Pitch
Timing.

22.10. Murmurs: Innocent Murmur Features.8 S's

Soft
Systolic
Short
Sounds (S1 and S2) normal
Symptomless
Special tests normal (X-ray and EKG)
Standing/Sitting (vary with position)
Sternal depression.

22.11. Paramyxoviruses Family

PRM3
Parainfluenza
Respiratory syncytial virus
Mumps
Measles
Metapneumovirus.

22.12. Pheochromocytoma-rule of 10%s

10% malignant
10% bilateral
10% extra-adrenal
10% calcified
10% children
10% familial.

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287

22.13. Potter Syndrome

POTTER:
Pulmonary hypoplasia
Oligohydramnios
Twisted skin (wrinkly skin)
Twisted face (Potter facies)
Extremities defects
Renal agenesis (bilateral).

22.14. Protein Content of Milk

Human: 1.1
Cow: 2.2
Buffalo: 3.3
Goat :4.4.

22.15. Psoriasis: Pathophysiology

PSORIASIS:
Pink Papules/Plaques/Pinpoint bleeding (Auspitz sign)/Physical injury
(Koebner phenomenon)/Pain.
Silver scale/Sharp margins.
Onycholysis/Oil spots.
Rete Ridges with Regular elongation.
Itching.
Arthritis/Abscess (Munro).
Stratum corneum with nuclei and neutrophils.
Immunologic.
Stratum granulosum absent/Stratum spinosum thickening.

22.16. Radial Nerve Innervates the BEST!!!!

Brachioradialis
Extensors
Supinator
Triceps.

288

Pediatric Spots

22.17. Rash Appearance in a Febrile Patient

Really Sick Children Must Try Duck Eggs
1st day: Rubella
2nd day: Scarlet fever/Smallpox
3rd day: Chickenpox (15 days)
4th day: Measles (Koplik spots seen a day prior to the rash)
5th day: Typhus and Rickettsia (this is variable)
6th day: Dengue (Morbilliform, over dorsum of hands and feet; trunk)
7th day: Enteric fever (Rose spots over abdomen, flanks and back).

22.18. Risk Factor for Neonatal Jaundice

JAUNDICE:
Jaundice within 24 hours
A sibling with jaundice
Unrecognized hemolysis
Nonoptimal sucking
Deficiency of G6PD
Infection
Cephalhematoma
East Asia.

22.19. Raynaud's Phenomenon: Causes

COLD HAND:
Cryoglobulins/Cryofibrinogens
Obstruction/Occupational
Lupus erythematosus, other connective tissue disease
Diabetes mellitus/Drugs
Hematologic problems (polycythemia, leukemia, etc.)
Arterial problems (atherosclerosis)
Neurologic problems (vascular tone)
Disease of unknown origin (idiopathic).

22.20. STURGE Weber

STURGE
Seizures
Trigeminal port-wine stain

Pediatric Mnemonics
Unilateral weakness (often opposite side to stain)
Retardation (mental) in some patients
Glaucoma
Eye problems, e.g. buphthalmos.

22.21. White Patch of Skin: Differential

"Vitiligo PATCH":
Vitiligo
Pityriasis alba/Postinflammatory hypopigmentation
Age-related hypopigmentation
Tinea versicolor/Tuberous sclerosis (ash leaf macule)
Congenital birthmark
Hansen's (leprosy).

22.22. Williams Syndrome

WILLIAMS
Weight (low at birth and slow to gain)
Iris (stellate iris)
Long philtrum
Large mouth
Increased Ca++
Aortic stenosis (and other stenosis)
Mental retardation
Swelling around eyes (periorbital puffiness).

22.23. DiGeorge Syndrome

CATCH-22:
Congenital heart disease
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia
22q deletion

22.24. Short Stature

Short stature: differential ABCDEFG:
Alone (neglected infant)

289

290

Pediatric Spots

Bone dysplasias (rickets, scoliosis and mucopolysaccharidoses)

Chromosomal (Turner's and Down's)
Delayed growth
Endocrine (low growth hormone, Cushing's and hypothyroid)
Familial
GI malabsorption (celiac and Crohn's).

22.25. Breastfeeding: Contraindicated Drugs BREAST

Bromocriptine/Benzodiazepines
Radioactive isotopes/Rizatriptan
Ergotamine/Ethosuximide
Amiodarone/Amphetamines
Stimulant laxatives/Sex hormones
Tetracycline/Tretinoin.

22.26. Congenital Adrenal Hyperplasia (CAH)

Congenital Adrenal Hyperplasia (CAH): Endocrine, congenital, most common.
Mnemonic: One up! first number refers to aldosterone, second number to
Testosterone. If that number is one then that hormone is elevated. 21-Hydroxylase
(most common!), 17-Hydroxylase, 11-Hydroxylase, 3-Hydroxylase
AT

Aldosterone

Cortisol

Testosterone

21

Low

Low

Elevated

17

Elevated

Low

Low

11

Elevated

Low

Elevated

03

Low

Low

Low

And remember this tells you the symptoms too. Aldosterone if elevated leads
to hypertension, hypokalemia. Testosterone if elevated in females leads to
virilizing often at birth. Shows up later in males.

22.27. Causes of Elevated Anion Gap Metabolic Acidosis

MUDPILES
Methanol
Uremia (renal failure)
Diabetic, alcoholic or starvation ketoacidosis
Paracetamol, propylene glycol, paregoric

Pediatric Mnemonics

291

Inborn errors of metabolism, iron, ibuprofen and isoniazid

Lactic acid
Ethylene glycol
Salicylates (aspirin)s.

22.28. Causes of Normal Anion Gap Metabolic Acidosis

DR. C
Diarrhea.
Renal tubular acidosis type I, II, IV (hypoaldosteronism) or medication
induced.
Chloride excess (from saline fluid resuscitation, hyperalimentation, or
increased gastrointestinal Cl reabsorption from fistulae or ureteral diversion).

22.29. Causes of Respiratory Alkalosis

AMISH
Ammonia (urea cycle defect and hepatic encephalopathy), anxiety
Medications (progesterone and salicylates)
Increased intracranial pressure
Sepsis
Hypoxemia and hyperthermia.

22.30. Measles: Complications "MEASLES COMP" (Complications)

Myocarditis
Encephalitis
Appendicitis
Subacute sclerosing panencephalitis
Laryngitis
Early death
Shits (diarrhea)
Corneal ulcer
Otitis media
Mesenteric lymphadenitis
Pneumonia and related (bronchiolitis-bronchitis-croup).

292

Pediatric Spots

Bibliography
1. http://medmnemonics.wordpress.com/category/paediatrics/
2. http://theweeklymnemonic.wordpress.com/category/surgery/pediatric/
3. http://worldofmedicalmnemonics.blogspot.ae/2008/08/pediatric-mnemonics.
html
4. http://www.lifehugger.com/pediatrics?page=7
5. http://www.medicalmnemonics.com/cgi-bin/return_browse.cfm?discipline=P
ediatrics&browse=1
6. http://www.rxpgonline.com/modules.php?name=Mnemonics&func=CatView
&cat=5
7. http://www.valuemd.com/pediatrics_mnemonics.php

Suggested Reading

1. Kliegman Robert M, Behrman Richard E. Nelson Textbook of Pediatrics. 19th

ed.(revision).
2. Megan M. Tschudy, Kristin M. Arcara. The Harriet Lane handbook . 19th ed.
Johns Hopkins Hospital.Childrens Medical and Surgical Center. (revision).
3. Neil Mclntosh, Peter Helms. Forfar and Arneils Textbook of Pediatrics.7th ed
(revision).
4. Thomas CJ, Robert AH. Common Pediatric Problems; Pediatric Board Review
Core Curriculum. 4th ed. Medstay 20102011. Colorado

Index
A
Acid-base imbalance 87
derangement in 88
diagnosis of 89
Aminoacidopathies 158
Anemia due to iron deficiency vs.
anemia of chronic inflammatory
disease (ACD) 134
Angle classification of occlusion 42
Anticholinergic agents 3
Anticipatory guidance for children
with Down syndrome 113
Apgar score 163
elements 163
Arthritis 279
definition of 279
systemic juvenile idiopathic 276
viruses associated with 277
Autosomal
dominant inheritance 107
recessive inheritance 107

B
Behaviors suggestive of ADHD 123
Benign salivary gland hypertrophy 45
Bilateral enlargement of the submaxillary glands 45
Birth
length 117
weight 117
Burn
classification 8

C
Cardiac catheterization 31
Cardiology 12

Causes of
blue skin 2
diaphoretic skin 2
esophageal dysphagia 87
hypercalcemia 72
hyperkalemia 70
hypernatremia 68
hyperphosphatemia 72
hypokalemia 71
hypomagnesemia 74
hyponatremia 69
hypophosphatemia 73
immune thrombocytopenia 139
metabolic
acidosis 76
alkalosis 76
migratory arthritis 281
miosis 1
mydriasis 1
oropharyngeal dysphagia 86
polyarthritis 281
raised platelet count (thrombocytosis) 139
red cell fragmentation syndromes
139
red skin 2
respiratory
acidosis 76
alkalosis 76
rickets 80
thrombocytopenia 139
Chemical CamP 2
Children at high-risk of invasive pneumococcal infection 144
Chromosomal analysis
indications for 111

296

Pediatric Spots

Chronic abdominal pain in children,

causes of 103
gallbladder and pancreas tract 103
gastrointestinal tract 103
genitourinary tract 103
miscellaneous 104
nonorganic 103
Classical galactosemia 151
signs and symptoms of 151
Classification of sexual maturity states
126
in boys 127
in girls 126
Clinical evaluation of dehydration
mild 64
moderate 64
severe 64
Clinical features of congenital rubella,
cytomegalovirus and toxoplasmosis 148
Clinical problems associated with
small for gestational age (SGA) at
birth 166
Clues for diagnosis of functional
abdominal pain 91
Clues that indicate an organic cause for
the abdominal pain 91
Clues to abnormal speech and language
development by age 122
Common causes of
acute childhood diarrhea
in adolescence 102
in children 102
in infancy 102
chronic childhood diarrhea 102
in adolescence 102
in children 102
in infancy 102
constipation 102
emesis 99
during adolescence 100
during childhood 99
during infancy 99
gastrointestinal bleeding in childhood 104

in adolescence 104
in children 104
in infancy 104
Common clinical findings
Fragile X syndrome 115
Klinefelter syndrome 115
Comparison of ulcerative colitis and
Crohn disease 93
Complications of diabetes in pregnancy on the fetuses and infants 166
Conditions associated with an
increased risk of hepatitis C 97
Conditions associated with natal teeth
44
Conduction disturbances
atrioventricular (AV) blocks 27
bundle branch block 28
Congenital duodenal atresia 98
Congenital heart diseases 31
atrial septal defect 34
chromosomal abnormalities 31
coarctation of the aorta 36
genetic diseases and their associated cardiac abnormalities 31
left-to-right shunts occurring in
post-tricuspid valve 32
patent ductus arteriosus 32
right-to-left shunts 38
single mutant gene syndrome 31
tetralogy of Fallot (TOF) 38
transposition of great arteries 39
ventricular septal defect 33
Congenital syphilis 171
Criteria for diagnosis of systemic lupus
erythematosus (SLE) 274
Cyclic vomiting syndrome
criteria for 101

D
Dentistry 41
Dermatology 46
Developmental milestones 118
ambulating 119
hands/fingers 119

Index
head control 118
reflexes 118
rolling and sitting 118
social 119
speech and language 120
Diagnosis of juvenile dermatomyositis
275
Differential diagnosis of
hyperammonemia 155
oral ulceration 44
rickets 58
Diphtheria 141
Discolored teeth 44
Disorders
of carbohydrate metabolism 159
of fatty acid metabolism 154
with caf-au-lait spots 55
Down syndrome 111
associated findings with 113
gastrointestinal defects in 112
heart defects in 112
ophthalmological features in 112
Drugs and conditions that affect thyroid function tests 56
Drug-induced lupus 280
facts about 280

E
Easy blood gas interpretation 90
Edwards syndrome 113
Endocrinology 56
Esophageal atresia and tracheoesophageal fistula 97
Ethanol ingestion
signs and symptoms of 6
Ethylene glycol ingestion 7
Evaluation of
liver function tests 90
metabolic acidosis in the young
infant 156
Expressive language development 122

F
Factors associated with
hearing loss in neonates 123

297

mother-to-child transmission
(MTCT) of HIV 149
Facts about vaccination 121
Failure to thrive (FTT) 117
Fatty acid oxidation defects 157
Features of the normal and abnormal
rhythms 16
accelerated junctional rhythm 23
asystoleabnormal 24
atrial fibrillation 18
atrial flutter 19
AV block
first degree 19
second degree type II 20
second degree type I (Wenckebach) 20
bundle branch block 21
junctional rhythms 22
myocardial infarct (MI) 24
normal sinus rhythm 16
premature ventricular complexes
22
sinus bradycardia 17
sinus tachycardia 17
supraventricular tachycardia (SVT)
abnormal 18
third degree heart block 21
ventricular tachycardia (VT) abnormal 23, 24
Fluids, electrolytes and nutrition 61
Fluid management of dehydration 64
Foreign body ingestions 92
Formula feeding 82
amino acid formulas 84
cows milk protein-based formulas
82
facts 82
protein hydrolysate formula 83
soy formulas 83
Friedreich ataxia
symptoms 152

G
Gastroenterology 86
Gastrointestinal obstruction
common causes 100

298

Pediatric Spots

Genetic counseling
indications 106
Glucose
in the maintenance fluids 61
screening 165
Glycosylated 56
Grade of ankle sprains 11
Growth and development 117
tooth development 120

H
Head injury 10
Hematology 129
Hemophilia A and B 140
Henoch-Schnlein purpura (HSP) 282
Hepatitis
A 93
B (HBV) 94
E 97
Holliday-Segar formula 92
Hunter syndrome
common findings in 153
facts about 153
Hurler syndrome
common findings in 153
facts about 153
Hydrocarbon ingestion 8
Hypertrophic pyloric stenosis 98

I
Important intervals
PR 12
QRS 13
QT 13
Incidence of malformation and degree
of maternal hyperglycemia prior
to conception 162
Infectious diseases 86, 141
Infectious mononucleosis 147
complications of 147
Inherited causes of lymphocytopenia
138
Insulin therapy 58
Intestinal obstruction 100

acquired causes 101

congenital causes 100

K
Karyotype
indications for 115
Kawasaki disease 276
Kearns-Sayre syndrome 110
Known risk factors for prematurity
162

L
Lab results of bleeding disorders 134
Late manifestations of congenital syphilis 142
Leigh disease 110
Lethal neonatal dwarfism 161
Lysosomal storage disorders 159

M
Management of baby born to mom
with group B streptococcus infection (GBS) prophylaxis 163
Measurement of burn areas 9
Meckel diverticulum 92
Metabolic and autoimmune disorders
86
Metabolic
disorders 151
screening 154
Methanol ingestion
symptoms 6
Mitochondrial inheritance 109
Monitoring therapy 65
Morbidity in childhood lupus 278
Most common causes of
oropharyngeal dysphagia 99
Myoclonic epilepsy and red-ragged
fibers (MERRF) 110

N
Neonatal
jaundice 168

Index
seizures 171
Neonatology 161
Neuromuscular disorders 86
Nomenclature of electrocardiogram
12
Nonlethal dwarfing conditions 161
Normal or innocent murmurs 30

O
Obesity
endocrine causes 84
genetic causes 84
Opiate overdose 4
Oral rehydration solutions (ORS)
composition of 67
Oral replacement therapy
certain contraindications 92
Organic acidemias 157
Organophosphate ingestion 8
Ostium
primum defect 35
secundum defect 34
Other problems of Down syndrome in
childhood 112

P
Patau syndrome 114
Pedigree symbols 106
Peripheral smear 130
burr cells (echinocytes) 132
Howell-Jolly bodies 133
hypersigmented PMNs 133
RBC fragments (schistocytes) 130
sideroblasts 132
some other RBCs shapes 134
spherocytosis 131
spur cells (acanthocytes) 133
target cells 131
teardrop cells 132
Permanent dentition 41
Peroxisomal disorders 159
Persistent pulmonary hypertension of
the newborn 167
Phases of iron toxicity 3

299

Phenylketonuria (PKU) 153

Plasma osmolality 76
Positive tuberculin skin testing 148
Possible complications of blood transfusions 138
Postnatally acquired rubella virus
infection 146
complications of 146
pathophysiologic events 145
Primary
dentition 41
lactic acidosis 158
Primitive reflexes 166
Problems of older patients with Down
syndrome 112

Q
QRS complex 16

R
Reactive arthritis 279
Recommendation of usage of pneumococcal polysaccharide vaccines
(PPV) 149
Replacement fluid for diarrhea 63
Risk of developing respiratory distress
syndrome 167
Routine childhood immunization administration 120

S
Salicylate
level 5
poisoning 4
Scarlet fever 145
Screening musculoskeletal examination in a child 281
Severe hyperbilirubinemia
risk factors 168
Skin lesions 46
nonpathological neonatal 51
cutis marmorta 52
erythema toxicum 54

300

Pediatric Spots

Harlequin color change 52

milia 51
mongolian spots 53
Salmon patch 53
sebaceous hyperplasia 51
transient neonatal pustular
melanosis 54
primary 46
secondary 49
Speech and language 120
ST segment 15
Structural lesions 86
Suggested metabolic syndrome indices
in children and adolescents 123
Suspicion of inborn errors 151
Symmetrical goiter 57
Symptoms of
acetaminophen overdose 2
anticholinergics overdose 3
iron overdose 3
Systematic evaluation of an arterial
blood gas sample 75
Systemic problems that cause aggressive periodontitis in children 44

T
Theophylline overdose 5
Toxic shock syndrome
staphylococcal
diagnostic criteria of 141
streptococcal 144
Traumatic oral injury
injuries to teeth 43
tooth fractures 43
Treatment of dehydration
hypernatremic 65
hyponatremic 66

Tricyclic antidepressant ingestion 5

Turner syndrome
associated findings with 114
common clinical findings of 114

U
Urea cycle defects 158
Use of the mean corpuscular volume (MCV) and reticulocyte
count in the diagnosis of anemia 135

V
Ventricular hypertrophy
left ventricular 25
right ventricular 26
Vomiting
complications of 101

W
Wakefulness in the newborn 165
Waveforms and segments
P wave 14
T wave 15
U wave 15
White pupillary reflex 164

X
Xerostomia 45
X-linked recessive (XR) inheritance
108

Y
Y-linked inheritance 109