Two Cases of Tuberous Sclerosis Patients with Renal Anomaly

Moon, Sung Hun; Choi, Hae Jong; Yun, Uk Don; Yang, Doo kyoung; Woo, Young Seok; Chang, Kwang Yul; Jee, Sam Ryong; Oh, Il Hwan; Kim, Seong Eun; Kim, Ki Hyun

Abstract

Tuberous sclerosis is a rare disease, which occurs sporadically or hereditarily and is recognized by its neurological and dermatological manifestations and may be accompanied with renal anomalies. The classical triad is composed of seizure, mental retardation and adenoma sebaceum on face. We experienced two cases of tuberous sclerosis in sporadic forms by mutation without any familial history which suggests the diseases were occurred by mutation rather than by autosomal dominant inheritance. In the first case, a 24-year-female patient with hypertension and abnormal renal function tests which were noted on the routine prenatal check at 32 weeks of gestation delivered normally at 37 weeks. The daughter of patient had seizure when she was 6 years old and was diagnosed as polycystic kidney disease by abdominal computed tomography. This case developed sporadic form of disease without familial history but, the daughter of patient might inherited by autosomal dominant form. The patient's clinical feature was characterized by history of epilepsy, painless abdominal mass due to polycystic kidney disease, abnormal renal function, skin abnormalites including angiofibroma and shagreen patch. Abdominal computed tomography demonstrated numerous variable sized cysts throughout both kidney. In second case, the patient was a 32-year-female patient complaining of 5kg weight gain, abdominal distension due to palpable masses. Her clinical feature was characterized by bilateral huge renal angiomyolipoma with normal renal function and skin abnormality such as erythematous papule on the face. Abd CT and MRI revealed huge angiomyolipoma of about 15cm X 18.5cm X 30cm and 14.5cm X 18cm X 30cm respectively. We presented the two cases with brief review of the literatures.