Drug‐refractory epilepsy as presenting feature of Niemann–Pick disease

Abstract

Niemann–Pick disease type C (NPC) is a lipid storage disorder having varied neurological, psychiatric, and visceral manifestations. Twenty‐seven‐year‐old female presented to the hospital with recurrent episodes of seizures for the last one and half year. She had delayed motor and language milestones and was scholastically poor in school. On examination, vertical saccades were slow with downgaze restriction. Higher mental function examination revealed predominant impairment of frontal and temporal lobe functions. She also had intermittent oromandibular dyskinesis. Cerebrospinal fluid analysis showed nil cells with protein 28 mg/dL and glucose 54 mg/dL. MRI brain showed diffuse supratentorial cerebral atrophy with atrophy of corpus callosum and multiple subcortical and periventricular T2/FLAIR hyperintensities. A clinical suspicion of NPC was considered and genetic analysis showed homozygous mutation of the NPC‐2 gene on Exon 3. So, our case was unique in terms of drug‐refractory epilepsy was the presenting feature that led to the diagnosis of NPC.