Tuberous sclerosis and polycystic kidney disease: A case report

Polycystic kidney disease is a relatively uncommon finding of tuberous sclerosis. Furthermore, the renal insufficiency by the severe polycystic kidney disease is extremely rare in tuberous sclerosis. The patient was a 27-year-old man, complaining of generalized seizure and progressive abdominal distension. His clinical features were chracterized by epilepsy, mental retardation, skin abnormalities including adenoma sebaceum, shagreen patch and ash-leaf spots. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidneys. Clinical and laboratory findings revealed chronic renal failure due to severe polycystic kidneys. On reviewing the literature, the present case is the first report of polycystic kidneys associated with tuberous sclerosis in Korea.