TUBEROUS SCLEROSIS COMPLEX: CLINICAL PRESENTATION AND DIAGNOSIS

Dr. Supriya, Dr. Vijay Verma* and Dr. Ravi Verma

ABSTRACT

Tuberous sclerosis complex (TSC), also known as Bourneville -Pringle disease is a neurocutaneous syndrome (phakomatosis) inherited in an autosomal dominant manner and have a prevalence of 1 in 6000 newborns. It is characterized by a classic clinical triad known as Vogt’s triad which consists of facial lesions (adenoma sebaceum), seizure and mental retardation. Sign and symptoms vary widely, depending on where the growths develop and how severely a person is affected. Here, we report one such case of neurocutaneous syndrome, later diagnosed as tuberous sclerosis complex who presented to us with a history of multiple episodes of seizure.

Keywords: neurocutaneous syndrome, seizure, tuberous sclerosis.