Case of Tuberous Sclerosis and Haemorrhagic Retinopathy (with Fundus Photographs)

Abstract

A case is described of probable tuberous sclerosis, or Boumeville's disease, in a woman who presented at the age of 16 with major and minor epileptic seizures. She also showed adenoma sebaceurn and drusen of the optic disc, low intelligence, temper tantrums, and hysteria. The fits were partially controlled by phenytoin, benzedrine, and phenobarbitone from the age of 21, but subsequently she developed megaloblastic anaemia which required treatment with folic acid. © 1967, British Medical Journal Publishing Group. All rights reserved.