Tuberous sclerosis: its neurological and neuropsychiatric aspects and a case report

Abstract

Tuberous sclerosis (TS) is an autosomal dominant, neurocutaneous disorder. Mutations of TSC1 and TSC2 genes which lead to the mechanistic target of rapamycin (mTOR) pathway dysregulation have been identified. In addition to the neurological and neuropsychiatric manifestations, the disease can have many other systemic manifestations affecting skin, kidneys, lungs, heart and eyes. The psychiatric manifestations can be broadly considered under neurodevelopmental, behavioural, intellectual, and psycho ocial symptoms. The diagnosis is often confirmed after a detailed evaluation. Treatment options include symptomatic management, prevention of loss of function of the affected organs and the etiological approach through mTOR inhibitors. Researches are being conducted using mTOR inhibitors like Rapamycin, everolimus and sirolimus on this regard. A case of organic delusional disorder with paranoid schizophrenia like symptomatology in a patient with TS is also described at the end.