Amantadine for the Treatment of Refractory Absence Seizures in Children.

Introduction: Childhood epilepsy is a generalized epilepsy syndrome with a favorable response to antiepileptic drugs; however, a small percentage of typical absence seizures remain refractory to drugs. We studied the safety and efficacy of amantadine in children with refractory absence seizures.

Materials And Methods: Of 48 children with typical absence seizures attending the outpatient department of a tertiary care neurological center over a period of 3 years from July 2013 to June 2016, 4 children who were refractory to standard treatment for at least 1 year were selected and were started on amantadine 4-6 mg/kg/day, after obtaining informed consent.

Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.

Progressive microcephaly and neurodegeneration are genetically heterogenous conditions, largely associated with genes that are essential for the survival of neurons. In this study, we interrogate the genetic etiology of two siblings from a non-consanguineous family with severe early onset of neurological manifestations. Whole exome sequencing identified novel compound heterozygous mutations in VARS that segregated with the proband: a missense (c.

Vitamin D Deficiency in Ambulant Children on Carbamazepine or Sodium Valproate Monotherapy.

Objective: To assess the effect of monotherapy with Carbamazepine (CBZ) and Sodium valproate (VPA) on serum 25-OH Vitamin D levels in children with epilepsy compared to controls.

Design: Cross-sectional study.

Setting: Outpatient department of a tertiary-care Pediatric Neurology centre, and a nearby day-care centre and school.

Neurometabolic disorder with microcephaly, dystonia, and central cyanosis masquerading as cerebral palsy.

Many neurodegenerative diseases can be misdiagnosed as cerebral palsy. The correct diagnosis is reached when the condition recurs in families or when there are specific clinical signs. The clinical and imaging features of 3 children, from 2 unrelated families, presenting with global developmental delay and dystonia are described, in whom the presence of cyanosis and methemoglobinemia confirmed the diagnosis of recessive hereditary methemoglobinemia type 2.

Rabies encephalomyelitis vs. ADEM: Usefulness of MR imaging in differential diagnosis.

We report a case of rabies encephalomyelitis in a 12-year-old boy who had received anti-rabies vaccine 6 weeks after being bitten by a puppy. The MR (magnetic resonance) imaging helped to differentiate rabies from acute disseminated encephalomyelitis (ADEM). ADEM involves the white matter predominantly, whereas rabies has a predilection for grey matter, that too of midline regions.

A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.

Pontocerebellar hypoplasia is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Pontocerebellar hypoplasia type 1 is associated with spinal anterior horn cell degeneration, microcephaly, congenital contractures, polyhydramnios, and respiratory insufficiency leading to death in infancy. Recently, however, the spectrum of this disease has been extended to include less severe variants, some of which are associated with minimal atrophy of the brainstem.