TUBEROUS SCLEROSIS - TYPICAL COMPLICATION OF AN HEREDITARY-DISEASE AND ITS THERAPEUTIC OPTIONS

Background: Tuberous sclerosis is an autosomal-dominant hereditary dis ease (incidence and prevalence 1:10,000) which is characterized by ham artomas in various organs. Patients and Methods: We demonstrate three patients with different and partly atypical manifestations: All had fa cial angiofibroma. No patient was mentally retarded and epilepsy was o bserved only intermittently. In all cases periventricular calcificatio ns were noted and renal angiomyolipomas were found. Two patients reque sted dialysis after nephrectomy. One patient suffered from severe comp lications of the rare pulmonary lymphangioleiomyomatosis. Results: The rapy of this multiorgan disease is only symptomatic. Operations should be considered as second line treatment. In one case, successful renal transplantation is described. Conclusions: Genetic counselling is war ranted in this disease with high penetrance, particularly the broad sp ectrum of manifestations should be taken into account.