A Case of Tuberous Sclerosis with Spontaneous Rupture of Renal Angiomyolipoma / 대한신장학회잡지

ABSTRACT

Tuberous sclerosis is an autosomal dominant disorder characterized by seizures, mental retardation and hamartomatous tumors in multiple organs, including subependymal giant cell astrocytomas, cortical tubers, cardiac rhabdomyoma, pulmonary lymphangiomyomatosis and renal angiomyolipomas. However, these clinical features are not always present. The following is a report concerning a 30-year-old woman with tuberous sclerosis who suffered a spontaneous hemorrhage into the angiomyolipoma of the kidney and underwent curative selective renal embolization. The patient had a medical history of focal seizures. Moreover, brain magnetic resonance imaging revealed typical signs of tuberous sclerosis, and a high resolution computerized tomography of the chest showed bilateral nodules with irregular margins and multiple thin-walled cystic lesions. There was no family history of renal disease or of tuberous sclerosis. As such, this case exhibited rare clinical manifestations of tuberous sclerosis involving multiple organs.