Tuberous sclerosis is characterized by epilepsy, mental retardation and adenoma sebaceum. Seizures and mental retardation were the presenting complaints in the nine cases presented here; however, a variety of clinical manifestations of the disease exist. Early diagnosis facilitates genetic counseling.
The diagnosis of unsuspected TS has been reached with the aid of computerized axial tomography. Most cases are sporadic, but incomplete forms of the disease may be difficult to detect. We have, therefore, studied nine immediate family members of four cases with TS. The results were negative in all of them, confirming the earlier notions that, in the absence of adenoma sebaceum in either parent, the disease is most probably sporadic.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.