[Tuberous sclerosis].

Abstract

Tuberous sclerosis (TS) is a congenital disease with hamarthromata, localized in particular to the central nervous system and skin. Other organs such as the heart, kidneys and eyes are, however, frequently involved. The disease is much more common than originally assumed. The most recent investigations show a prevalence of 1:9,704. TS is a dominant hereditary disease but with varying penetration. The frequency of mutation is probably less than previously assumed. The gene for TS is localized to the long arm of chromosome 9 (q34). Prenatal diagnosis is not yet possible. The symptoms and the course of condition depend upon the organ system involved, the age of the patient and of the varying penetration. All patients with TS must be examined with Wood's lamp, and be submitted to sonography of the kidneys, echocardiography, ophthalmic examination and computed tomography of the cerebrum. Treatment is purely symptomatic but surgical intervention may be considered. The present authors recommend that all patients with TS are submitted to the abovementioned examinations once annually with the exception of computed tomography of cerebrum which is undertaken if cerebral involvement is suspected.