CONGENITAL

ANOMALIES OF THE
RESPIRATORY TRACT
UZIMA UNIVERSITY
PAEDIATRICS LECTURE SERIES: 21/05/2024
FACILITATOR: DR.JULIANA
PRESENTERS: ALI NOOR UM/20-A/294
BRIDGIT KWAMBOKA UMB/20-A/301
PHILIP MUTWIRI UMB/19-A/200
SCOPE
CHOANAL ATRESIA
CLEFT PALATE
CLEFT LIP
LARYNGOMALACIA
TRACHEOMALACIA
TRACHEOESOPHAGIAL FISTULA
OESOPHAGEAL ATRESIA
OTHERS
CHOANAL ATRESIA
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• Blockage of posterior nasal opening. Often associated with bony abnormalities of

the midface.
• Most cases involve bony and membranous obstruction to varying degrees
• . Most often unilateral. When bilateral, represents an emergency
Epidemiology
• Choanal atresia occurs in approximately one in 7000 live births
• Approximately two-thirds of cases are unilateral
• Unilateral to bilateral ratio is 2:1
• Its more common in girls than boys, ratio 2:1
• More commonly right sided
• More commonly bony than membranous
Risk factors
• Genetic factors
• Exposure to certain medications or chemicals eg thioamides
• Maternal smocking during pregnancy
• Certain syndromes like CHARGE syndrome
• Retinoic acid deficiency during gestation period
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Clinical presentation
• The presentation varies depending upon whether one or both sides are involved.
• Individuals with unilateral choanal atresia typically present later in life with
unilateral nasal discharge and/or obstruction.
• Infants with bilateral choanal atresia typically present with severe upper airway
obstruction and cyclic cyanosis that worsens during feeding and improves when
the infant cries.
• The child is pink on crying and blue on breastfeeding
• Feeding difficulty
• Failure to thrive
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 Diagnosis
• Clinically: newborn turns cyanotic when breastfeeding and pink when crying
• Cotton wisp test Qualitative measure of nasal airflow, such as the movement of a wisp of
cotton under the nostrils or fogging of a mirror adds support to the clinical diagnosis
Nasal catheter: The diagnosis should be suspected if a number 5 or 6 French catheter cannot
be passed from the nose to oropharynx a distance of at least 32 mm
Endoscopy: use of flexible nasal endoscopy- occluded nasal cavity is typically filled with thick
tenacious secretions
Radiology: The diagnosis of choanal atresia is confirmed by CT with intranasal contrast that
shows narrowing of the posterior nasal cavity at the level of the pterygoid plate .
Atretic plate can be seen directly using fiberoptic rhinoscopy
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ASSSOCIATIONS
Often part of multiple malformation syndromes, such as CHARGE syndrome:
• Coloboma of eye
• Heart defects
• Atresia of choanae
• Restricted growth and development
• Gastrointestinal defects
• Ear defects
Approximately 10-20% of choanal atretic patients have it.
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Differential diagnosis
Deviated nasal septum

Dislocated nasal septum

Septal hematoma

Mucosal swelling

Turbinate hypertrophy

Encephalocele

Nasal dermoid

Hamartoma

Chordoma

Teratoma
TREATMENT
• Initial treatment consists of prompt placement of an oral airway .
• A standard oral airway (such as that used in anesthesia) can be used, or a feeding
nipple can be fashioned with large holes at the tip to facilitate air passage
• Once an oral airway is established, the infant can be fed by gavage until breathing
and eating without the assisted airway is possible
• In bilateral cases, intubation or, less often, tracheotomy may be indicated.
• If the child is free of other serious medical problems, operative intervention is
considered in the neonate; transnasal repair is the treatment of choice, with the
introduction of small magnifying endoscopes and smaller surgical instruments and
drills
Treatment

• Surgery is the definitive treatment in all cases

• Stents are usually left in place for weeks after the repair to prevent closure or
stenosis, although a large meta-analysis demonstrated that there is no benefit to
stenting.
• Another option is a transpalatal repair, and this is done when a transnasal
endoscope cannot be placed through the nose due to thick bony atresia or
stenosis
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Cont……
• Tracheotomy should be considered in cases of bilateral atresia in which the child
has other potentially lifethreatening problems and in whom early surgical repair of
the choanal atresia may not be appropriate or feasible.
• Operative correction of unilateral obstruction may be deferred for several years. In
both unilateral and bilateral cases, restenosis necessitating dilation or reoperation,
or both, is common.
• Mitomycin C has been used to help prevent the development of granulation
tissue and stenosis, although its efficacy is questionable.
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CLEFT LIP AND CLEFT PALATE
• Cleft lip- is a congenital condition where there is open section of upper lip.
• It can occur any point along the top lip
• Can extend as high as the nose when complete type

Cleft palate- is where defect exist in the hard or soft palate at the roof of the mouth
causing an opening between the mouth and nasal cavity
Cleft lip or cleft palate can occur together or on their own.
Incidence and Epidemiology
• Kenya –recent prospective cohort study done during free outrage camps in nie
different counties revealed that most common cleft deformities were cleft lip
(46.4%), both (34.6%) and cleft lip(15.5%).
• Unilateral clefts were mosty left sided (58.3%)
• There was a male predominance (62%)
Global-The incidence of cleft lip with or without cleft palate is approximately 1 in
750 white births; the incidence of cleft palate alone is approximately 1 in 2,500 white
births. Clefts of the lip are more common in males.
Cont……..
There are families in which a cleft lip or palate, or both, is inherited in a dominant
fashion (van der Woude syndrome ), and careful examination of parents is important
to distinguish this type from others, because the recurrence risk is 50%.
• Ethnic factors also affect the incidence of cleft lip and palate; the incidence is
highest among Asians (~1 in 500) and Native Americans (~1 in 300) and lowest
among blacks (~1 in 2,500).
• Cleft lip may be associated with other cranial facial anomalies, whereas cleft
palate may be associated with central nervous system anomalies
• There are approximately 400 syndromes associated with cleft lip and palates
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ETIOLOGICAL FACTORS
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 Pathophysiology
• These facial defects arise from incomplete closure or maturation of embryonic
processes
• Formation of the face begins at week 4 after formation of facial prominences or
processes at the head region of the embryo which begins with frontal prominence
• The face develops from five swellings/processes that form around primitive mouth
(stomodeum). These processes are
 ● Single frontonasal process

● Paired maxillary processes

● Paired mandibular processes

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Frontonasal process forms forehead, external nose, nasal cavity, nasal septum,
and philtrum of the upper lip
● Maxillary processes form lateral parts of the upper lip and upper parts of the
cheek
 ● Mandibular processes form chin, lower lip, and lower parts of the cheek.
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Diagnostic evaluation
• Prenatal diagnosis- maternal ultrasonography and sample of amniotic fluid
• After birth- history and physical examination
Cleft lip is mostly apparent at birth
Neonate may have breastfeeding problem and thus clinically suspected
A gloved finger placed in the mouth to feel the defect or visual examination with
flash light will confirm the diagnosis
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LARYNGOMALACIA
• Definition– is a congenital softening of the larynx above the vocal cords.
• Laryngeal structure is malformed and floppy causing tissues to fall over the airway
opening due to inward collapse of supraglottic structure and partially block it.
In type 1 laryngomalacia, the aryepiglottic folds are tightened or foreshortened. Type 2 is
marked by redundant soft tissue in any area of the supraglottic region. Type 3 is associated
with other disorders, such as neuromuscular disease and gastroesophageal reflux.

EPIDEMIOLOGY
Common cause (65%) of congenital stridor in infants
May occur in older children and adults
More common in male and term baby
Association with other syndromes and neurologically-impaired eg cerebral palsy
 .Aetiology
• Cartilage immaturity
• Anatomic abnormality
• Neuromuscular immaturity
• Inflammatory causes

Pathophysiology
Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both.
When the epiglottis is involved, it is often elongated, and the walls fold in
on themselves. The epiglottis in cross section resembles an omega, and the
lesion has been referred to as an omega-shaped epiglottis. If the arytenoid
cartilages are involved, they appear enlarged. In eithe
Clinical Manifestations
• The usual history in patients with laryngomalacia is of inspiratory noises that begin during the
first 2 months of life. Sounds typically start at age 4-6 weeks, but they may begin in the
nursery or as late as age 2-3 months.
• Noises are inspiratory and may sound like nasal congestion. However, the noises persist and
no nasal secretions are present. The noise may be more high pitched, crowing stridor.
• Noise is often increased when the baby is supine, during sleep, during agitation, during upper
respiratory infection episodes, and, in some cases, during and after feeding.
• The baby's cry is usually normal, unless concomitant reflux laryngitis is present.
• Usually, no feeding intolerance is noted, although occasional choking or coughing with
feedings may be noted if the baby has reflux and/or aspiration. Noises may increase during
and after feeding.
• The infant is usually happy and thriving.
Physical Examination
• the baby is usually happy and appropriately interactive.
•Mild tachypnea may be present.
•Other vital signs are normal, and oxygen saturation is usually normal.
•One can usually detect nasal airflow.
•The noise may be increased if the baby is placed supine.
•The cry is normal.
•The noise is purely inspiratory. The sounds may best be heard just above the sternal notch.
•The rest of the examination findings are unremarkable.
Diagnosis
• The diagnosis is made primarily based on symptoms.
• The diagnosis is confirmed by outpatient flexible laryngoscopy .
• When the work of breathing is moderate to severe, airway films and chest
radiographs are indicated.
• Laryngomalacia can contribute to feeding difficulties and dysphagia in some
children because of decreased laryngeal sensation and poor suck-swallow-breath
coordination.
• When the inspiratory stridor sounds wet or is associated with a cough or when
there is a history of repeat upper respiratory illness or pneumonia, dysphagia
should be considered.
CONT…..
• When dysphagia is suspected, a contrast swallow study and/or a fiberoptic
endoscopic evaluation of swallowing (FEES) may be considered.
• Because 15–60% of infants with laryngomalacia have synchronous airway
anomalies, complete bronchoscopy is undertaken for patients with moderate to
severe obstruction.(bronchoscopy done under anaesthesia is more sensitive)
Differential Diagnoses
Congenital Stridor

Croup

Hypocalcemia

Pediatric Airway Foreign Body

Pediatric Gastroesophageal Reflux

Pediatric Subglottic Stenosis Surgery

Respiratory Papillomatosis
MANAGEMENT
• Expectant observation is suitable for most infants because most symptoms
resolve spontaneously by age 2 years.
• Laryngopharyngeal reflux is managed aggressively with antireflux medications,
such as histamine H2 receptor antagonists (H2RAs) or proton pump inhibitors
(PPIs).
• Risk-benefit ratio should be assessed in each patient because these medications,
particularly PPIs, have been associated with iron-deficiency anemia, increased
incidence of pneumonia, gastroenteritis, and Clostridium difficile infections,
among others.
Mx…
• In 15–20% of patients, symptoms are severe enough to cause progressive
respiratory distress, cyanosis, failure to thrive, or cor pulmonale.
• In these patients, surgical intervention via supraglottoplasty is considered.
Supraglottoplasty is 90% successful in relieving upper airway obstruction caused
by laryngomalacia.
• Some comorbidities, such as cardiac disease, neurologic disease, pulmonary
disorders, or craniofacial anomalies may be poor prognostic indicators that would
suggest earlier intervention.
TRACHEOMALACIA
• A relatively common anomaly of the upper respiratory tract
• Characterized by dynamic collapse of the trachea during breathing, resulting in
airway obstruction.
• Because most lesions are intrathoracic, airway collapse typically occurs during
expiration.
• Extrathoracix lesions in the cervical trachea are rare and lead to collapse during
inspiration
TYPES
• Type 1 is caused by an intrinsic defect in the cartilaginous portion of the trachea
leading to an increased proportion of membranous trachea.
- The lack of sufficient rigid support results in airway collapse.
• Type 2 is caused by extrinsic tracheal compression by mediastinal masses,
vascular rings and slings.
- This type can be congenital or acquired.
• Type 3 lesions result from prolonged positive pressure ventilation or an
infectious/inflammatory process that undermines the intrinsic cartilaginous
support of the trachea
CLINICAL FEATURES
• Depend upon the location and severity of the tracheal lesion.
• Intrathoracic lesions typically present with a recurrent harsh, barking, or croup-like
cough
• Extrathoracic lesions cause inspiratory stridor
• Both may result in respiratory distress.
• A greater extent of collapse is associated with earlier presentation.
• Infants and young children with tracheobronchomalacia tend to have more
frequent respiratory illnesses and delayed recovery from these illnesses as
compared to control patients, but the site and severity of the malacia does not
predict the respiratory illness profile
History
The history of a patient with tracheomalacia typically includes a wheeze that
usually begins when the individual is aged 4-8 weeks .
Physical Examination
The baby looks well and happy despite the chronic wheeze.
Vital signs are normal.
The typical abnormality is of a wheeze throughout exhalation that sounds the
same in all lung fields. It is a coarse monophonic exhalatory sound, which
has been described as exhalatory stridor. No asymmetry to the breath sounds
is present.
The patient's voice and cry are normal, unless gastroesophageal reflux is
present.
DIAGNOSIS
• CXR – usually normal
• Bronchoscopy- diagnostic, trachea observed to collapse during expiration
• Oxygen saturation
• (CT) scanning may reveal the abnormal shape of the trachea as the apposition of
the walls. "Expiratory frown" shapes are observed in CT scans when the area is
scanned during an exhalation or cough
• Esophagraphy can be performed to evaluate for a vascular anomaly, for a
bronchogenic cyst, or for esophageal duplication.
Differential Diagnoses
Bronchiolitis

Double Aortic Arch

Bronchopulmonary Dysplasia (BPD) Imaging

Pediatric Asthma

Pediatric Bronchogenic Cyst

Pediatric Gastroesophageal Reflux

Pulmonary Artery Sling

Right Aortic Arch in Vascular Ring Defects

Sinonasal Manifestations of Cystic Fibrosis

MANAGEMENT
• The long-term prognosis of this disorder is good in children with no associated
problems.
• Most affected infants improve spontaneously by 6 to 12 months of age as airway
caliber increases and cartilage develops.

• Intervention may be needed in children with life-threatening episodes of airway

obstruction, recurrent infection, respiratory failure, or failure to thrive.

• Although severely affected patients with type 1 or 3 tracheomalacia may require

positive pressure ventilatory support, tracheal surgery, placement of a tracheal stent,
or suspension of the trachea (tracheopexy) may be other options
 Mx…..
• Continuous positive airway pressure or bilevel positive airway pressure provided by means of
tight-fitting face or nasal mask, endotracheal tube, or tracheostomy tube can provide relief from
severe obstruction.
• Surgical Care;
• Repair of vascular rings and slings can be done to decompress the trachea and allow healing to
begin.
• Tracheostomy can provide internal stenting of the trachea in babies. With time and growth, the
airway obstruction resolves, and the cannula can be removed from the infant.
• Aortopexy (suspension of the aorta) is performed when tracheomalacia is caused by extrinsic
vascular compression
Tracheoesophageal fistula and
Esophageal atresia
Epidemiology
• Tracheoesophageal fistula (TEF) is a common congenital anomaly of the
respiratory tract
• Incidence of approximately 1 in 3500 live births
• TEF typically occurs with esophageal atresia (EA).
Pathogenesis
• The esophagus and trachea both develop from the primitive foregut. In a 4-week-
old embryo, the caudal part of the foregut forms a ventral diverticulum that
evolves into the trachea. The longitudinal tracheoesophageal fold fuses to form a
septum that divides the foregut into a ventral laryngotracheal tube and a dorsal
esophagus.
• The posterior deviation of the tracheoesophageal septum causes incomplete
separation of the esophagus from the laryngotracheal tube and results in a TEF.
Cont….

• Approximately 17-70% of children have associated developmental anomalies.

• These include ;
• Down syndrome
• Cardiac anomalies eg ventricular septal defect, patent ductus arteriosus, tetralogy of Fallot, atrial
septal defect, and right-sided aortic arch.
• Genitourinary anomalies eg renal agenesis or dysphagia, horseshoe kidney, polycystic kidney,
ureteral and urethral malformations, and hypospadias.
• Gastrointestinal anomalies eg imperforate anus, duodenal atresia, malrotation, intestinal
malformation, Meckel diverticulum, and annular pancreas.
• Musculoskeletal anomalies eg hemivertebrae, amelia, polydactyly, syndactyly, rib malformation,
scoliosis, and lower limb defect.
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TYPES
 Etiology
Although no definite cause exists for congenital tracheoesophageal fistulas (TEFs), an
association with trisomies 18, 21, and 13 has been reported.
In addition, the use of decongestants that contain imidazoline derivatives by women during
the first trimester of pregnancy has been linked to an increased risk for congenital TEFs .

Complications
These include;
recurrent pneumonia, acute lung injury, acute respiratory distress syndrome,
lung abscess, poor nutrition, bronchiectasis from recurrent aspiration,
respiratory failure, and death.
CLINICAL FEATURES
• The clinical presentation of TEF depends upon the presence or absence of EA.
• Esophageal atresia in the fetus should be considered as a cause of maternal
polyhydramnios. Absence of stomach gas on prenatal ultrasonography is another
indication of esophageal atresia.
• Neonates with esophageal atresia usually develop copious, fine white frothy bubbles of
mucus in the mouth and nose. Secretions recur despite suctioning.
• Infants may develop rattling respiration and episodes of coughing and choking in
association with cyanosis.
• Symptoms worsen during feeding in the presence of a tracheoesophageal fistula (TEF).
• Abdominal distension
• Recurrent episodes of pneumonia in type E TEF
Differential Diagnoses
Aspiration Pneumonitis and Pneumonia
Esophageal Cancer
Esophageal Diverticula
Esophageal Rupture
Esophageal Stricture
Esophagitis
Gastroesophageal Reflux Disease
Respiratory Failure
Tracheal Tumors
Tracheomalacia
Zenker Diverticulum
DIAGNOSIS
• prenatally:
• Ultrasound examination-reveals polyhydramnios, absence of fluid, a small abdomen,
lower than expected fetal weight and distended esophageal pouch.
Post-natally:
• Plain chest radiographs may reveal tracheal compression and deviation. Absence of a
gastric bubble indicates esophageal atresia without a TEF or esophageal atresia with a
proximal TEF.
X-ray-can demonstrate aspiration pneumonia in the posterior segments of the upper
lobes
Inability to pass NG tube into stomach due to resistance
Bronchoscopy, Abdominal ultrasound and echocardiogram
MANAGEMENT
• Treatment consists of surgical ligation of the fistula. in healthy infants primary
repair is performed within the first few days of life.
• Repair is delayed in patients with low birth weight, pneumonia, or other major
anomalies.
• Initially, treat patients conservatively with parenteral nutrition, gastrostomy, and
upper pouch suction until they are considered to be low risk.
• In cases with Esophageal Atresia, primary anastomosis of the esophageal
segments is preferred.
Cont…
• Primary repair may not be possible if the distance between esophageal segments
is large.
• In that case, staged procedures have been performed that include:
- Elongation of the esophagus
- interposition of the colon, and
- gastric transposition
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REFERENCES
• Nelson textook of pediatrics volume 2
• Langman embryology textbook
• Mk7 lecture series
• https:/www.ncbi.nnlm.nih.gov
• http://gpnotebook.com
• medscape
THANK YOU
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