Tuberous sclerosis with recurrent seizure, dermatological lesions, renal cysts, and hypothyroidism in a female patient in Awka, Nigeria

Abstract

The incidence of tuberous sclerosis seems to be rising in Nigeria. Tuberous sclerosis with cerebral, renal, thyroid, and dermatological manifestations have not been completely identified. This case report documents a rare case of tuberous sclerosis with cerebral and dermatological lesions, renal cysts, and hypothyroid state. A 28-year-old female patient who presented in our clinic with a history of recurrent seizures for 19 years, a shagreen patch on the right lumbar area, scarring alopecia, and puckering facial angiofibroma. No member of her family had a similar illness. Computerized tomography scan showed multiple echoic cysts in the two kidneys. Her thyroid function tests revealed a hypothyroid state. Brain computerized tomography showed subependymal calcified nodules of the lateral ventricles and prominence of the cerebral sulci, more at the vertex.  Electroencephalogram findings were normal. She was placed on oral Carbamazepine 400mg BD and has remained seizure-free for two years. Tuberous sclerosis with concomitant renal, cerebral, and dermatological lesions and hypothyroidism, though rare, was presented. The patient had tuberous sclerosis with renal cysts, subependymal nodules, and prominence of the cerebral sulci, with recurrent seizures, ash leaf/shagreen patches, scarring scalp alopecia, and a hypothyroid state.