Hepatitis A-induced acute liver failure with glucose 6 phosphate dehydrogenase deficiency induced hemolysis and renal failure.

Hepatitis A is the most prevalent viral hepatitis in India and rarely can lead to life-threatening complications such as acute liver failure (ALF). Glucose 6 phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency in the world, and in the setting of acute viral hepatitis, it can cause massive intravascular hemolysis, resulting in acute kidney injury. Here, we report a case of a 12-year-old male child who had hepatitis A-associated ALF, which was complicated by massive hemolysis due to underlying G6PD deficiency, manifesting as acute renal failure requiring renal replacement therapy with other supportive management.

Clinical and molecular spectrum associated with Polymerase-γ related disorders.

Background: pathogenic variants are the commonest single-gene cause of inherited mitochondrial disease. However, the data on clinicogenetic associations in -related disorders are sparse. This study maps the clinicogenetic spectrum of -related disorders in the pediatric population.

Pediatric Dystonic Storm: A Hospital-Based Study.

Objective: Pediatric dystonic storm is an underrecognized entity. We aimed to evaluate the profiles of children presenting with dystonic storm in a referral hospital. Management schema and treatment responsiveness of this uncommonly reported entity were analyzed.

Effects of lockdown during corona pandemic on children with neurodevelopmental disorders-A questionnaire-based survey.

Background: Lockdown due to Corona pandemic is an unprecedented event, which has had a profound impact on the lives of children across all ages. Its effects on children with Neurodevelopmental Disorders (NDD) has not been adequately studied. This study was performed in order to explore the effects of lockdown during the Corona pandemic on children with NDD and their parents.

Add-on Home-Centered Activity-Based Therapy vs Conventional Physiotherapy in Improving Walking Ability at 6-Months in Children With Diplegic Cerebral Palsy: A Randomized Controlled Trial.

Background: : Institutional physiotherapy as a standard of care for management of cerebral palsy (CP) has certain shortcomings, especially in resource-constrained settings. This is a proof-of-concept trial to evaluate the efficacy of individualized home-centered activity-based therapy in children with spastic diplegic CP.

Design: Randomized controlled trial (open-label).

Association of Child Neurology (AOCN) - Indian Epilepsy Society (IES) Consensus Guidelines for the Diagnosis and Management of West Syndrome.

Justification: West syndrome is one of the commonest causes of epilepsy in infants and young children and is a significant contributor to neurodevelopmental morbidity. Multiple regimens for treatment are in use.

Process: An expert group consisting of pediatric neurologists and epileptologists was constituted.

Acute ischemic stroke following water immersion seizure: a case report.

Sing Rana K, Goswami JN, Sareen N. Acute ischemic stroke following water immersion seizure: a case report. Turk J Pediatr 2019; 61: 453-455.

Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management.

Drug-refractory epilepsy is a commonly prevalent pediatric neurological illness of global significance. Ketogenic diet (KD) is a time-tested therapeutic modality for refractory epilepsy, which has reemerged as a robust alternative to anti-epileptic pharmacotherapy. There is a growing body of evidence which supports the anti-seizure efficacy, safety profile and feasibility of KD use in childhood epilepsy.

Drug reaction with eosinophilia and systemic symptoms in a child on multiple antiepileptics.

Goswami JN, Vaidya PC, Saini AG, De D, Radotra BD, Singhi PD. Drug reaction with eosinophilia and systemic symptoms in a child on multiple antiepileptics. Turk J Pediatr 2017; 59: 197-199.

Angelman Syndrome Due to UBE3A Gene Mutation.

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman syndrome.

An Indian Family with Tyrosine Hydroxylase Deficiency.

Background: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder.

Case Characteristics: An Indian family with the disorder.

Observations: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness.

Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

The incidence of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive inherited disorder of GABA degradation, is unknown. Upon a recent diagnosis of a new family of affected fraternal twins from the Punjabi ethnic group of India, case ascertainment from the literature and our database was done to determine the number of confirmed cases along with their geographic distribution. The probands presented with global developmental delay, infantile onset epilepsy, and a persistent neurodevelopmental disorder upon diagnosis at 10 years of age with intellectual disability, expressive aphasia, and behavioral problems most prominent for hyperactivity.