A Case of Tuberous Sclerosis Complicated with Massive Bleeding of Renal Angiomyolipoma / 대한신장학회지

ABSTRACT

Tuberous sclerosis (TSC) is a systemic, autosomal dominant disorder resulting from mutations in one of two genes, TSC1 (encoding hamartin) or TSC2 (enconding tuberin). TSC causes seizure, mental retardation and hamartomatous tumors in multiple organs, including facial angiofibromas, cortical tubers, pulmonary lymphangiomatosis, renal angiomyolipomas and polycystic kidney disease. Renal angiomyofibromas may cause serious complications such as life threatening retroperitoneal hemorrhage or hematuria. The following is a report concerning a 41-year-old man with TSC who suffered spontaneous hemorrhage within the angiomyofibroma of the left kidney and underwent curative selective renal embolization. Then larger angiomyolipoma was suggested to be more likely to bleed, so secondary prophylactic selective renal embolization was done into five angiomyolipomas of the right kidney. After selective embolization, tumor size decreased and renal function was preserved. This patient did not show neurologic abnormality and family history of tuberous sclerosis. However, the brain magnetic resonance imaging revealed typical signs of tuberous sclerosis, and the computerized tomography of the abdomen showed bilateral renal angiomyolipomas and polycystic renal lesion. Herein we present a rare case of bilateral renal angiomyolipomas with spontaneous hemorrhage and preserved renal function after curative and prophylactic selective embolization.