Familial Tuberous Sclerosis.
- Author:
Dong Kuck LEE
1
;
Jin Kuk DO
Author Information
1. Department of Neurology, Taegu Catholic University Hospital, Korea.
- Publication Type:Brief Communication
- MeSH:
Hamartoma;
Humans;
Incidence;
Intellectual Disability;
Numismatics;
Seizures;
Siblings;
Tuberous Sclerosis*
- From:Journal of the Korean Neurological Association
1995;13(4):1037-1041
- CountryRepublic of Korea
- Language:Korean
-
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.
