Publications (68)122.71 Total impact
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Article: Hypomyelination With T2-hypointense Globi Pallidi in a Child With Fucosidosis.
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ABSTRACT: A 4-year-old boy presented with progressive neurodegeneration, mild coarsening of facies and spasticity. The classical neuroimaging guided the subsequent investigation of enzyme assay which confirmed the diagnosis of fucosidosis.Journal of child neurology 05/2013; · 1.59 Impact Factor -
Article: Clinical spectrum and treatment outcome of West Syndrome in children from Northern India.
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ABSTRACT: PURPOSE: This study was intended to document the clinical profile and treatment outcome of West syndrome in children attending a tertiary care center in Northern India. METHOD: Data were collected by a retrospective chart review of children diagnosed with West syndrome between January 2008 and January 2012. Information was recorded pertaining to the age at onset and presentation, etiology, and associated co-morbidities; results of electroencephalography (EEG) and neuroimaging; treatment given; and final outcome. The following drugs were used for treatment: pyridoxine, prednisolone, vigabatrin, sodium valproate, nitrazepam, topiramate, and levetiracetam. The response was categorized as spasm cessation, partial improvement (>50% improvement), or no improvement. The final outcome was considered favorable when there was a complete cessation of spasms; with absence of relapse and no progression to other seizure types for at least 6 months. RESULTS: Records of 148 children (120 boys) were analyzed. The mean (SD) age at onset and presentation was 5.3 (4.6) months, and 13.1 (7.3) months, respectively. Perinatal asphyxia (61.4%), neonatal sepsis/meningitis (10.6%), and postnatal meningitis (11.4%) were the predominant causes. The etiology could not be ascertained in 16.6% of children. Favorable outcome was observed in 45 (30.4%) children with spasm cessation rate of 25.4% with prednisolone. Age at onset, gender, time lag to treatment, presence of perinatal asphyxia, or co-morbid cerebral palsy did not affect the final outcome. CONCLUSION: This study highlights the developing country perspective of children with West syndrome, including delayed presentation, adverse perinatal events as the predominant etiology, and modest response to oral steroids.Seizure 05/2013; · 1.80 Impact Factor -
Article: Central Pontine Myelinolysis Presenting With Tremor in a Child With Celiac Disease.
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ABSTRACT: A 4-year-old boy presented with a history of tremor for 7 days. He also had recurrent diarrhea for the previous 1 year, and poor weight gain. Magnetic resonance of the brain was suggestive of central pontine myelinolysis. There was no evidence of electrolyte abnormalities. The serum tissue transglutaminase level was markedly elevated, and the duodenal biopsy revealed features of celiac disease. The patient was started on gluten-free diet. The tremor resolved within 3 months. Repeat imaging of the brain done 3 months after starting gluten-free diet showed complete resolution of the lesion. This case highlights the unusual presentation of central pontine myelinosis as tremor in a malnourished child with celiac disease.Journal of child neurology 02/2013; · 1.59 Impact Factor -
Article: Heat Stroke in an Infant With Hypohidrotic Ectodermal Dysplasia: Brain Magnetic Resonance Imaging Findings.
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ABSTRACT: We describe the magnetic resonance imaging findings of a 4 month old infant with hypohidrotic ectodermal dysplasia who developed heat stroke. Magnetic resonance imaging of the brain revealed signal alteration with restricted diffusion in the splenium of corpus callosum, cerebral peduncles and cerebellar dentate nuclei.Journal of child neurology 01/2013; · 1.59 Impact Factor -
Article: Use of the modified Atkins diet for treatment of refractory childhood epilepsy: A randomized controlled trial.
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ABSTRACT: PURPOSE: The aim of this study was to evaluate the efficacy of the modified Atkins diet in a randomized controlled trial in children with refractory epilepsy. METHODS: Children aged 2-14 years who had daily seizures despite the appropriate use of at least three anticonvulsant drugs were enrolled. Children were randomized to receive either the modified Atkins diet or no dietary intervention for a period of 3 months. The ongoing anticonvulsant medications were continued unchanged in both the groups. Seizure control at 3 months was the primary end point. Analysis was intention to treat. Adverse effects of the diet were assessed by parental reports (ClinicalTrials.gov Identifier: NCT00836836). KEY FINDINGS: Among a total of 102 children, 50 were in the diet group and 52 in the control group. Four children discontinued the diet before the study end point, and three children in the control group were lost to follow-up. The mean seizure frequency at 3 months, expressed as a percentage of the baseline, was significantly less in the diet group: 59 ± 54 (95% confidence interval [CI] 44-74.5) versus 95.5 ± 48 (95% CI 82-109), p = 0.003. The proportion of children with >90% seizure reduction (30% vs. 7.7%, p = 0.005) and >50% seizure reduction was significantly higher in the diet group (52% vs. 11.5%, p < 0.001). Constipation was the most common adverse effect among children on the diet (23, 46%). SIGNIFICANCE: The modified Atkins diet was found to be effective and well tolerated in children with drug-refractory epilepsy.Epilepsia 01/2013; · 3.96 Impact Factor -
Article: Genetic testing of epileptic encephalopathies of infancy: an approach.
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ABSTRACT: The epileptic encephalopathies of infancy are a group of disorders characterized by intractable seizures, persistent abnormality of cortical function documented on EEG, and consequently impaired neuro-developmental outcomes. The etiologies vary and include; structural brain malformations, acquired brain insults, and inborn errors of metabolism in the majority of the affected patients. In a proportion of these cases no obvious etiology is identifiable on investigation. Recent advances in molecular diagnostics have led to the discovery of a number of gene defects that may be causal in many epileptic encephalopathies. Identification of the causative mutation is important for prognostic and genetic counseling, and may also carry treatment implications. The recently described genes include; Cyclin-Dependent Kinase-Like 5 gene (CDKL5), Protocadherin 19 (PCDH19), Sodium channel neuronal type 1a subunit gene (SCN1A), Aristaless-Related Homeobox Gene (ARX), and Syntaxin binding protein 1 gene (STXBP1), amongst others. Distinct electro-clinical syndromes are increasingly being identified amongst patients carrying the various mutations. In this review, we outline the approach to clinical evaluation and genetic testing of epileptic encephalopathies in infancy.The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 01/2013; 40(1):10-6. · 0.97 Impact Factor -
Article: Chiari Type 1 Malformation and Periventricular Nodular Heterotopia in a 6-Year-Old Boy With Congenital Hemiplegia: A Case Report.
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ABSTRACT: A 6-year-old boy presented with weakness of the right upper and lower limbs, noted since infancy. Magnetic resonance imaging of the brain revealed periventricular nodular heterotopia lining the trigone and occipital horns of bilateral lateral ventricles along with herniation of the cerebellar tonsils below the foramen magnum suggestive of Chiari type 1 malformation. The association of periventricular nodular heterotopia with Chiari type 1 malformation has not been described earlier in children.Journal of child neurology 12/2012; · 1.59 Impact Factor -
Article: Schwartz Jampel syndrome in children.
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ABSTRACT: Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia. We report six Indian children with this disorder presenting with different clinical manifestations.Journal of Clinical Neuroscience 12/2012; · 1.25 Impact Factor -
Article: Consensus Guidelines on Evaluation and Management of Suspected Acute Viral Encephalitis in Children in India.
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ABSTRACT: JUSTIFICATION: Viral encephalitis is an important cause of mortality and morbidity in children. The etiological agents are varied, and physicians treating such children often feel limited by the lack of uniform guidelines on evaluation and management of these critically ill children in resource-constrained settings. PROCESS: An Expert Group Meeting on Viral Encephalitis in Children was held on 19th January, 2012 in Gurgaon, Haryana (under the aegis of PEDICON 2012, the National Conference of Indian Academy of Pediatrics). The invited experts included pediatricians and microbiologists with expertise in the relevant field. Various issues related to the subject were discussed and it was decided to bring out recommendations on the topic. The final recommendations were produced after circulating the draft document, and incorporating/discussing all changes, by email. Objectives: To aid the pediatrician in the evaluation and management of children with suspected viral encephalitis and to assist the public health authorities in acute encephalitis surveillance. These guidelines do not cover viral encephalitis in the neonatal period and in immunocompromised children, Rabies encephalitis, and chronic viral encephalitis such as Subacute sclerosing panencephalitis (SSPE). RECOMMENDATIONS: Recommendation for evaluation and management of suspected viral encephalitis in children are presented. In any acute encephalitis outbreak, pediatricians should be aware of the common viral causes of encephalitis in their area, what information and samples they should collect, and the contact details of the District Surveillance Unit. Pending specific diagnosis and therapy (which may or may not be possible), prompt empirical therapy and meticulous supportive care are important to prevent ongoing brain damage, and improve outcome.Indian pediatrics 11/2012; 49(11):897-910. · 1.05 Impact Factor -
Article: Imaging in Neonatal Maple Syrup Urine Disease.
The Indian Journal of Pediatrics 08/2012; · 0.52 Impact Factor -
Article: Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease.
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ABSTRACT: Menkes disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7A gene. Its clinical course is characterized by early neurological regression, seizures, hypotonia and kinky friable hair. Neuroimaging typically reveals severe brain atrophy with subdural fluid collections and excessive tortuosity of cerebral arteries. The authors describe a case of Menkes disease with unusual imaging findings. The patient had macrocephaly and symmetrical bilateral confluent white matter changes with temporal cystic areas, reminiscent of megalencephalic leukodystrophy.The Indian Journal of Pediatrics 06/2012; · 0.52 Impact Factor -
Article: Infantile-Onset Alexander Disease : A Genetically Proven Case With Mild Clinical Course in a 6-Year-Old Indian Boy.
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ABSTRACT: Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly involving frontal lobes. We report a 6-year-old Indian boy with infantile-onset Alexander disease, who has an unusually mild clinical course and a de novo p.Leu359Val mutation in the glial fibrillary acidic protein gene.Journal of child neurology 05/2012; · 1.59 Impact Factor -
Article: Moyamoya syndrome associated with severe iron deficiency anemia in a young child.
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ABSTRACT: A 3-year-old boy presented with recurrent strokes and pallor. Hematological investigations revealed severe iron deficiency anemia without thrombocytosis. The magnetic resonance angiogragraphy findings were suggestive of moyamoya syndrome. The association of moyamoya syndrome with severe iron deficiency anemia has not been reported earlier. The likely pathophysiological mechanisms are discussed.Pediatric Hematology and Oncology 05/2012; 29(4):368-71. · 0.89 Impact Factor -
Article: Normal values of liver and spleen size by ultrasonography in Indian children
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ABSTRACT: ObjectivesTo establish normative data for the ultrasonographic measurement of liver and spleen size in healthy Indian children. SettingTertiary-care pediatric teaching hospital. DesignCross-sectional, hospital-based study. Participants597 healthy children between the ages of 1 month to 12 years. MeasurementsUltrasonographic evaluation for the assessment of liver and spleen size. These were correlated with the age, sex, height/length and weight of the participants. ResultsNormal liver and spleen length and range were obtained sonographically. The liver and spleen length significantly correlated highly with the height/length of the subjects (P=0.0001). ConclusionsThe study provides the normal values of liver and spleen size by ultrasonography in healthy Indian children. KeywordsChildren-Liver-Measurements-Organometry-Spleen-UltrasonographyIndian pediatrics 04/2012; 47(6):487-492. · 1.05 Impact Factor -
Article: Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report.
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ABSTRACT: A 3-year-old girl who presented with anemia, thrombocytopenia, and recurrent strokes is described. The cerebral angiography revealed moyamoya vasculopathy. Her younger brother also had anemia and thrombocytopenia but no neurologic abnormalities. Both children had severe deficiency of ADAMTS13 (A Disintegrin And Metalloprotease with Thrombospondin like domain activity) confirming the diagnosis of congenital thrombotic thrombocytopenic purpura. The children responded well to regular fresh-frozen plasma infusions. This report expands the spectrum of hematologic diseases associated with moyamoya syndrome. Unexplained thrombocytopenia, especially in the presence of neurologic symptoms, should prompt an evaluation for ADAMTS13deficiency. The diagnosis has significant implications not only for therapy but also for genetic counseling.Journal of child neurology 02/2012; 27(10):1331-5. · 1.59 Impact Factor -
Article: Evaluation of a parent-based behavioral intervention program for children with autism in a low-resource setting.
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ABSTRACT: Intensive behavioral intervention programs are recommended for children with autism. However, in resource-constraint settings, such programs are largely inaccessible, and there is an urgent need for development of low-cost interventions. To evaluate the efficacy of a parent-based behavioral intervention program in Indian autistic children. Sixteen children with autistic disorder undergoing the intervention for at least six months were enrolled. The mean development, social, expressive, and receptive language quotients, and the Childhood Autism Rating Scale (CARS) and Autism Behavior Checklist (ABC) scores were compared before and after the intervention. The average duration of therapy was 19.5±11.78 months. There was a significant improvement in the development quotient (P=0.015), social quotient (P=0.004), expressive language quotient (P=0.03), CARS (P=0.001), and ABC (P=0.014) scores. Parent-based behavioral intervention programs have a promising role in management of children with autism in resource-constraint settings.Journal of Pediatric Neurosciences 01/2012; 7(1):16-8. -
Article: Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene.
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ABSTRACT: The authors report two brothers who presented with motor delay and stiffness. The elder boy had auto-mutilation of lips and fingers. Serum uric acid was elevated in both the children. Both the boys had undetectable hypoxanthine-guanine phosphoribosyl transferase activity in hemolysate, confirming the diagnosis of Lesch-Nyhan syndrome. Molecular genetic testing revealed a new mutation in the HPRT1 gene.The Indian Journal of Pediatrics 12/2011; · 0.52 Impact Factor -
Article: Childhood chronic inflammatory demyelinating polyneuropathy associated with acquired scoliosis: a case report.
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ABSTRACT: An 11-year-old boy presented with progressive proximal muscle weakness and areflexia. He also had scoliosis with right convexity in the thoracic spine. Nerve conduction studies showed demyelination with conduction blocks. The level of protein in the cerebrospinal fluid was elevated. Magnetic resonance imaging of the lumbosacral spine showed enhancement and hypertrophy of the nerve roots. The patient responded well to steroids. The association of acquired scoliosis with chronic inflammatory demyelinating polyneuropathy has not been reported before.Journal of child neurology 12/2011; 27(6):804-6. · 1.59 Impact Factor -
Article: Progressive weakness in a 12-year-old boy.
Journal of Clinical Neuroscience 12/2011; 18(12):1686, 1751. · 1.25 Impact Factor -
Article: The ketogenic diet and the QT interval.
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ABSTRACT: Cardiac complications have been rarely reported associated with the ketogenic diet. Prolonged QT interval in the electrocardiogram and torsades de pointes arrhythmias have been described in a few cases. The effect of the ketogenic diet on QT interval has not been systematically evaluated. We obtained serial electrocardiograms in our patients on the ketogenic diet to look for changes in the mean QT interval. Twenty seven children aged 6 months to 5 years with refractory epilepsy were enrolled. Classic ketogenic diet was introduced using a non-fasting gradual initiation protocol. All patients were supplemented with oral calcium and selenium. Electrocardiograms were obtained at baseline and after 1, 3, 6, and 12 months on the ketogenic diet. There was no statistically significant change in the corrected QT interval over time. There were no ST segment changes or dysrhythmias in any of the electrocardiograms.Journal of Clinical Neuroscience 11/2011; 19(1):181-2. · 1.25 Impact Factor
Top co-authors
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Institutions
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2010–2013
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All India Institute of Medical Sciences
New Delhi, NCT, India
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2007–2012
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Lady Hardinge Medical College
- Department of Pediatrics
New Delhi, NCT, India
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2005
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Maulana Azad Medical College
New Delhi, NCT, India
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