Familial Tuberous Sclerosis

J Korean Neurol Assoc > Volume 13(4); 1995 > Article

Journal of the Korean Neurological Association 1995;13(4): 1037-1041.

가족성 결절성 경화증

이동국, 도진국

대구 효성가톨릭대학교 신경과

Familial Tuberous Sclerosis

Dong Kuck Lee, M.D., Jin Kuk Do, M.D.

Department of Neurology, Taegu Catholic University Hospital

Abstract

Tuberous sclerosis (TS) is a complex genetic disorder characterized by the formation of multiple hamartomas. It was first described by von Recklinghausen in 1862. In 1880, Boumeville coined the term sclerose tubererse. In 1908, Vogt emphasized the classic triad of seizures, mental retardation, and adenoma sebaceum. TS is inherited as an autosomal dominant trait with a high incidence of sporadic cases. TS might be a relatively common disease, but familial cases were not reported commonly in neurological field. We reported a familial TS in brothers with protean clinical expressivity.

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