A 28-year-old woman presented at the emergency department (ED) with acute bilateral leg weakness ... more A 28-year-old woman presented at the emergency department (ED) with acute bilateral leg weakness and lost the ability to walk 1 day after noticing bilateral leg numbness and intermittent pleuritic pain for 3 weeks. Physical examination revealed bilateral decreased muscle strength with score 4 symmetrically in the legs and decreased deep tendon reflex. Laboratory tests indicated lymphopenia but no other grossly remarkable findings. Cerebrospinal fluid analysis demonstrated albuminocytologic dissociation. Electrophysiologic survey also indicated sensory-motor demyelinating polyneuropathy. The clinical picture was compatible with acute inflammatory demyelinating polyneuropathy (AIDP), the most prevalent form of Guillain-Barré syndrome (GBS). Plasma exchange was immediately arranged. After serial examination, pleuritic pain, persistent lymphopenia, positive immunologic findings of anti-DNA, and antinuclear antibodies led to a diagnosis of systemic lupus erythematosus (SLE). Prednisolone was added along with plasma exchange. The patient was able to walk after 2 weeks of therapy. Acute inflammatory demyelinating polyneuropathy presenting as the initial manifestation of SLE is rather rare. The precise mechanism of SLE-related AIDP remains unclear but is probably immune related. Although steroids are not recommended in the management of AIDP or GBS, patients with SLE-related AIDP may benefit from steroid therapy. This case highlights that early initiation of evaluation for SLE by ED physicians may facilitate correct diagnosis and better outcomes in patients presenting with GBS or AIDP in the ED.
Objective The aim of this study was to translate and validate the psychometric properties of the ... more Objective The aim of this study was to translate and validate the psychometric properties of the Quality of Life Kindl questionnaire. Materials & Methods Parents of 4-7 yr-old healthy and ill children referred to Mofid Children Hospital in Tehran in 2013, Iran were sampled randomly in two groups each of which 130 people. After translation, the questionnaie’s validity and reliability was evaluated and was confirmed for face and content validity. Questionnaire was also completed by two (one healthy and one ill) groups for which inclusion criteria included consent of the parents, age of the children being beween 4 and 7 yr, and presence of the child in a nursery school, kindergarten, school or any class at least for one month. Exclusion criteria were inability of the parents in answering the questions accurately. Inclusion criterion for the ill group was having chronic cardiac, neurologic, hematologic, or respiratory diseases, lasting longer than 3 months for which they were followed u...
Seizure is an emergency in pediatrics. It really matters to the parents of the involved child to ... more Seizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis. First unprovoked seizures (FUS) are seizures that occur in patients without fever, trauma or infection. Due to the rapid improvement in diagnostic techniques in the last few decades, the etiology will be revealed and this term will no longer exist. This Study was designed to evaluate brain imaging findings in FUS patients. Ninety-six children with FUS, who were admitted in three major children's hospitals in Tehran, underwent brain imaging and were enrolled into the study. The decision about the type of imaging (CT or MRI) was based on the patient's medical and financial conditions. An expert radiologist in the field of pediatric neuroimaging interpreted the images. Altogether, 27.1% had abnormal findings of which 29.2% were in the brain MRI group and 14.3% were in the brain CT scan group. Abnormal results were gliosis ...
1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Te... more 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran 2. Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran 3. Pediatric Neurology Department, Hazrat Fatemeh Masoumeh Hospital, Qom University of Medical Sciences, Qom, Iran
BACKGROUND AND AIMS The ketogenic diet is an effective medical therapy for intractable childhood ... more BACKGROUND AND AIMS The ketogenic diet is an effective medical therapy for intractable childhood epilepsy. However, it has drawbacks in that it restricts calories, fluids and protein. The Atkins diet may also induce ketosis without those restrictions. Our objective was to evaluate the efficacy of a modified Atkins diet in children with intractable childhood epilepsy. METHODS This clinical trial was conducted in 51 epileptic children aged 1 - 16 years with refractory seizures from Feb. 2004 to Oct. 2006. Outcome measures included seizure frequency and adverse reactions. Twenty-seven patients left the study for various reasons, leaving 24 who continued the Atkins diet for a minimum of three months. Carbohydrates were initially limited to 10 g/day and fats constituted 60% of the total energy requirement. All participants received vitamin and calcium supplementation. RESULTS Following three months of treatment with the Atkins diet, 16 patients (67%) had >50% decrease in seizure frequ...
Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that ... more Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that are available for treatment are limited and new treatments such as diets must be tried. Now there are some diets available for treating patients with intractable epilepsy. The oldest diet is the classic ketogenic diet and one of the newest diets is the modified Atkins diet. Patients have a harder time accepting the classic ketogenic diet than the Atkins diet, which is easier to accept because the food tastes better. This study compares the efficacy of the ketogenic diet and the Atkins diet for intractable epilepsy in children. This study is a clinical trial survey with sample size of 40 children with refractory epilepsy who were patients at Mofid hospital in Tehran, Iran. Initially, from Jan 2005-Oct 2007, 20 children were treated with the Atkins diet, and then from Oct 2007-March 2010, the other group was treated with the classic ketogenic diet and the results were compared. In this stu...
Niemann-Pick disease type C (NP-C) is a neurovisceral lipid storage disorder. At the cellular lev... more Niemann-Pick disease type C (NP-C) is a neurovisceral lipid storage disorder. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. NP-C is transmitted in an autosomal recessive manner and is caused by mutations in either the (95% of families) or gene. The estimated disease incidence is 1 in 120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. Variants of adenosine triphosphatase (ATPase) subunit 6 and ATPase subunit 8 () in mitochondrial DNA (mtDNA) have been reported in different types of genetic diseases including NP-C. In the present study, the blood samples of 22 Iranian patients with NP-C and 150 healthy subjects as a control group were analyzed. The DNA of the blood samples was extracted by the salting out method and analyzed for mutations using polymerase chain reaction sequencing. ...
This study was conducted to predict the response to treatment in patients treated with anti-epile... more This study was conducted to predict the response to treatment in patients treated with anti-epilepsy drugs. This analytical questionnaire-based study was conducted in 2014 among 128 patients with epilepsy admitted to Mofid Children's Hospital, Tehran, Iran. The inclusion criteria were children 2 months to 12 yr of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study. Patients were followed up for 6 months and the response to their treatment was recorded. The good response to treatment was defined as the absence of seizure with two drugs during follow up. Seventy-two patients (56.3%) were boys. The age of the first seizure was under 2 yr old in 90 patients (70.3%). History of febrile convulsion, family history of epilepsy and history of asphyxia was found in 16 (12.5%), 41 (32%), and 27 (21.1%) patients, respectively. Seizure etiology was idiopathic in 90 patients (70.3%), and the number of seizures was 1-2 in 36 pati...
Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation... more Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated.Mutational analysis of the GCDH gene was performed on genomic DNA. Genomic DNA was extracted from peripheral lymphocytes using QIAamp DNA Micro Kit (Qiagen). All 11 exons and flanking intronic regions of the GCDH gene were amplified by polymerase chain reaction (PCR). All patients were diagnosed before 32 months old. Clinical presentations of GA1 include acute encephalopathic crisis and/or developmental delay and macrocephaly. Seven GCDH gene mutations wer...
Limp is described as any deviation from a normal gait pattern for the child's age. Limping ta... more Limp is described as any deviation from a normal gait pattern for the child's age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp. The provisional diagnosis can be a challenge to establish even after history, physical, and laboratory examinations.
European journal of medical genetics, Jan 30, 2018
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OF... more Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma. By whole or targeted exome sequencing, we identified seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, all causing OFD6 in these patients. Since CPLANE1 is also mutated in JS patients, we examined whether a genotype-phenotype correlation could be establish...
A 28-year-old woman presented at the emergency department (ED) with acute bilateral leg weakness ... more A 28-year-old woman presented at the emergency department (ED) with acute bilateral leg weakness and lost the ability to walk 1 day after noticing bilateral leg numbness and intermittent pleuritic pain for 3 weeks. Physical examination revealed bilateral decreased muscle strength with score 4 symmetrically in the legs and decreased deep tendon reflex. Laboratory tests indicated lymphopenia but no other grossly remarkable findings. Cerebrospinal fluid analysis demonstrated albuminocytologic dissociation. Electrophysiologic survey also indicated sensory-motor demyelinating polyneuropathy. The clinical picture was compatible with acute inflammatory demyelinating polyneuropathy (AIDP), the most prevalent form of Guillain-Barré syndrome (GBS). Plasma exchange was immediately arranged. After serial examination, pleuritic pain, persistent lymphopenia, positive immunologic findings of anti-DNA, and antinuclear antibodies led to a diagnosis of systemic lupus erythematosus (SLE). Prednisolone was added along with plasma exchange. The patient was able to walk after 2 weeks of therapy. Acute inflammatory demyelinating polyneuropathy presenting as the initial manifestation of SLE is rather rare. The precise mechanism of SLE-related AIDP remains unclear but is probably immune related. Although steroids are not recommended in the management of AIDP or GBS, patients with SLE-related AIDP may benefit from steroid therapy. This case highlights that early initiation of evaluation for SLE by ED physicians may facilitate correct diagnosis and better outcomes in patients presenting with GBS or AIDP in the ED.
Objective The aim of this study was to translate and validate the psychometric properties of the ... more Objective The aim of this study was to translate and validate the psychometric properties of the Quality of Life Kindl questionnaire. Materials & Methods Parents of 4-7 yr-old healthy and ill children referred to Mofid Children Hospital in Tehran in 2013, Iran were sampled randomly in two groups each of which 130 people. After translation, the questionnaie’s validity and reliability was evaluated and was confirmed for face and content validity. Questionnaire was also completed by two (one healthy and one ill) groups for which inclusion criteria included consent of the parents, age of the children being beween 4 and 7 yr, and presence of the child in a nursery school, kindergarten, school or any class at least for one month. Exclusion criteria were inability of the parents in answering the questions accurately. Inclusion criterion for the ill group was having chronic cardiac, neurologic, hematologic, or respiratory diseases, lasting longer than 3 months for which they were followed u...
Seizure is an emergency in pediatrics. It really matters to the parents of the involved child to ... more Seizure is an emergency in pediatrics. It really matters to the parents of the involved child to have information about the causes, management and prognosis. First unprovoked seizures (FUS) are seizures that occur in patients without fever, trauma or infection. Due to the rapid improvement in diagnostic techniques in the last few decades, the etiology will be revealed and this term will no longer exist. This Study was designed to evaluate brain imaging findings in FUS patients. Ninety-six children with FUS, who were admitted in three major children's hospitals in Tehran, underwent brain imaging and were enrolled into the study. The decision about the type of imaging (CT or MRI) was based on the patient's medical and financial conditions. An expert radiologist in the field of pediatric neuroimaging interpreted the images. Altogether, 27.1% had abnormal findings of which 29.2% were in the brain MRI group and 14.3% were in the brain CT scan group. Abnormal results were gliosis ...
1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Te... more 1. Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran 2. Pediatric Neurology Center of Excellence, Department of Pediatric Neurology, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran 3. Pediatric Neurology Department, Hazrat Fatemeh Masoumeh Hospital, Qom University of Medical Sciences, Qom, Iran
BACKGROUND AND AIMS The ketogenic diet is an effective medical therapy for intractable childhood ... more BACKGROUND AND AIMS The ketogenic diet is an effective medical therapy for intractable childhood epilepsy. However, it has drawbacks in that it restricts calories, fluids and protein. The Atkins diet may also induce ketosis without those restrictions. Our objective was to evaluate the efficacy of a modified Atkins diet in children with intractable childhood epilepsy. METHODS This clinical trial was conducted in 51 epileptic children aged 1 - 16 years with refractory seizures from Feb. 2004 to Oct. 2006. Outcome measures included seizure frequency and adverse reactions. Twenty-seven patients left the study for various reasons, leaving 24 who continued the Atkins diet for a minimum of three months. Carbohydrates were initially limited to 10 g/day and fats constituted 60% of the total energy requirement. All participants received vitamin and calcium supplementation. RESULTS Following three months of treatment with the Atkins diet, 16 patients (67%) had >50% decrease in seizure frequ...
Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that ... more Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that are available for treatment are limited and new treatments such as diets must be tried. Now there are some diets available for treating patients with intractable epilepsy. The oldest diet is the classic ketogenic diet and one of the newest diets is the modified Atkins diet. Patients have a harder time accepting the classic ketogenic diet than the Atkins diet, which is easier to accept because the food tastes better. This study compares the efficacy of the ketogenic diet and the Atkins diet for intractable epilepsy in children. This study is a clinical trial survey with sample size of 40 children with refractory epilepsy who were patients at Mofid hospital in Tehran, Iran. Initially, from Jan 2005-Oct 2007, 20 children were treated with the Atkins diet, and then from Oct 2007-March 2010, the other group was treated with the classic ketogenic diet and the results were compared. In this stu...
Niemann-Pick disease type C (NP-C) is a neurovisceral lipid storage disorder. At the cellular lev... more Niemann-Pick disease type C (NP-C) is a neurovisceral lipid storage disorder. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. NP-C is transmitted in an autosomal recessive manner and is caused by mutations in either the (95% of families) or gene. The estimated disease incidence is 1 in 120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed due to its highly heterogeneous presentation. Variants of adenosine triphosphatase (ATPase) subunit 6 and ATPase subunit 8 () in mitochondrial DNA (mtDNA) have been reported in different types of genetic diseases including NP-C. In the present study, the blood samples of 22 Iranian patients with NP-C and 150 healthy subjects as a control group were analyzed. The DNA of the blood samples was extracted by the salting out method and analyzed for mutations using polymerase chain reaction sequencing. ...
This study was conducted to predict the response to treatment in patients treated with anti-epile... more This study was conducted to predict the response to treatment in patients treated with anti-epilepsy drugs. This analytical questionnaire-based study was conducted in 2014 among 128 patients with epilepsy admitted to Mofid Children's Hospital, Tehran, Iran. The inclusion criteria were children 2 months to 12 yr of age with epilepsy and patients who experienced fever and seizure attacks at least once were excluded from the study. Patients were followed up for 6 months and the response to their treatment was recorded. The good response to treatment was defined as the absence of seizure with two drugs during follow up. Seventy-two patients (56.3%) were boys. The age of the first seizure was under 2 yr old in 90 patients (70.3%). History of febrile convulsion, family history of epilepsy and history of asphyxia was found in 16 (12.5%), 41 (32%), and 27 (21.1%) patients, respectively. Seizure etiology was idiopathic in 90 patients (70.3%), and the number of seizures was 1-2 in 36 pati...
Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation... more Glutaricaciduria type 1 (GA1), is a rare, treatable neuro metabolic disease, due to gene mutation.In regions without neonatal blood screening (NBS), patients are diagnosed in symptomatic period. This study was carried out to assess patients with GA1 for clinical, biochemical, neuroimaging findings and GCDH gene mutations analysis. In this cross-sectional study, clinical manifestation, neuroimaging and metabolic findings of eleven Iranian GA1 patients of MofidChildren's Hospital, Tehran, Iranbetween 2001 and 2011,were evaluated.Mutational analysis of the GCDH gene was performed on genomic DNA. Genomic DNA was extracted from peripheral lymphocytes using QIAamp DNA Micro Kit (Qiagen). All 11 exons and flanking intronic regions of the GCDH gene were amplified by polymerase chain reaction (PCR). All patients were diagnosed before 32 months old. Clinical presentations of GA1 include acute encephalopathic crisis and/or developmental delay and macrocephaly. Seven GCDH gene mutations wer...
Limp is described as any deviation from a normal gait pattern for the child's age. Limping ta... more Limp is described as any deviation from a normal gait pattern for the child's age. Limping takes many forms and is one of the most enigmatic complaints in pediatric medicine. It is never normal, and both benign and life-threatening illnesses can present with limp. The provisional diagnosis can be a challenge to establish even after history, physical, and laboratory examinations.
European journal of medical genetics, Jan 30, 2018
Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OF... more Mutations in CPLANE1 (previously known as C5orf42) cause Oral-Facial-Digital Syndrome type VI (OFD6) as well as milder Joubert syndrome (JS) phenotypes. Seven new cases from five unrelated families diagnosed with pure OFD6 were systematically examined. Based on the clinical manifestations of these patients and those described in the literature, we revised the diagnostic features of OFD6 and include the seven most common characteristics: 1) molar tooth sign, 2) tongue hamartoma and/or lobulated tongue, 3) additional frenula, 4) mesoaxial polydactyly of hands, 5) preaxial polydactyly of feet, 6) syndactyly and/or bifid toe, and 7) hypothalamic hamartoma. By whole or targeted exome sequencing, we identified seven novel germline recessive mutations in CPLANE1, including missense, nonsense, frameshift and canonical splice site variants, all causing OFD6 in these patients. Since CPLANE1 is also mutated in JS patients, we examined whether a genotype-phenotype correlation could be establish...
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