[Tuberous sclerosis: typical complications of a hereditary disease and therapeutic options].

BACKGROUND

Tuberous sclerosis is an autosomal-dominant hereditary disease (incidence and prevalence 1:10,000) which is characterized by hamartomas in various organs.

PATIENTS AND

METHODS

We demonstrate three patients with different and partly atypical manifestations: All had facial angiofibroma. No patient was mentally retarded and epilepsy was observed only intermittently. In all cases periventricular calcifications were noted and renal angiomyolipomas were found. Two patients requested dialysis after nephrectomy. One patient suffered from severe complications of the rare pulmonary lymphangioleiomyomatosis.

RESULTS

Therapy 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 warranted in this disease with high penetrance, particularly the broad spectrum of manifestations should be taken into account.