Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Background: Neuronal ceroid lipofuscinoses (NCLs) are progressive, autosomal recessive lysosomal storage disorders primarily affecting children, marked by seizures, cognitive decline, motor regression, and visual impairment. Limited genetic data exist for South Asian populations, with most studies relying on enzymatic assays or electron microscopy. This study explores the genetic spectrum of NCL and genotype-phenotype correlations in a cohort from South India.

Spectrum of Intracranial Hemorrhages in Cerebral Venous Thrombosis: A Pictorial Case Series and Review of Pathophysiology and Management.

Objective: We aim to provide a pictorial representation of the broad spectrum of intracranial hemorrhages associated with cerebral venous thrombosis (CVT), emphasizing atypical locations and rare intracerebral hemorrhage (ICH) types. We also hypothesize the pathophysiology leading to atypical locations of the ICH in CVT and the outcomes with anticoagulation therapy.

Background: ICH complicates about 40% of cases with CVT and is known to cause various types of ICH, including subarachnoid hemorrhage (SAH) and subdural hemorrhage (SDH).

Cough elixir overdose causing toxic leuco-encephalopathy and serotonin syndrome.

Acute toxic leukoencephalopathy and serotonin syndrome are rare neurological complications associated with various drugs and toxins, some of which overlap. However, the co-occurrence of these conditions is poorly documented. We present the case of a 14-year-old boy who suddenly developed altered consciousness and autonomic dysfunction after consuming excessive quantities of cough remedies containing dextromethorphan, chlorphenamine, dichlorobenzyl alcohol, and amylmetacreson.

Yield of video electro encephalography for phase 1 pre-surgical evaluation of drug resistant epilepsy in 1200 adults: retrospective study from a tertiary center situated in a lower-middle-income country.

Introduction: Video Electroencephalography (VEEG) is crucial for presurgical evaluation of Drug Refractory Epilepsy (DRE). The yield of VEEG in large volume centers, particularly those situated in Low-and Middle-Income countries (LMIC) is not well studied.

Methodology: We studied 1200 adults with drug resistant focal epilepsy whose seizures were recorded during VEEG in the epilepsy monitoring unit.

Intravenous methylprednisolone is a potential add on therapy for Ring chromosome 20 syndrome.

Ring 20 syndrome is a rare cause of refractory epilepsy and non-convulsive status epilepticus in children. We report a patient with Ring 20 syndrome with refractory focal seizures and non-convulsive status epilepticus who showed good treatment response with intravenous steroids. We wish to highlight that intravenous pulse methylprednisolone is a useful treatment strategy in this setting.