Tuberous Sclerosis: A Rare Cause Section of Seizure in an Older Adult

Abstract

Tuberous sclerosis is a rare autosomal dominant genetic disorder caused by mutation of TCS1 or TCS2 gene. The birth incidence is estimated to be 1 in 6000. It is a multisystem neurocutaneous disorder characterised by widespread hamartomas, cutaneous changes and neurological manifestations. It may present as seizures in adult patients and being a rare aetiology, presents a diagnostic challenge to physicians. Here, the authors report a case of a 48-year-old male who presented with recent onset of seizures and subsequently was found to have tuberous sclerosis. He was managed with oral levetiracetam and remained asymptomatic during follow-ups, over a period of two years.

Keywords

• adenoma sebaceum
• genetic disorder
• hypopigmented skin lesions
• mtor
• phakomatosis