上衣下巨細胞性星細胞腫と腎血管筋脂肪腫を合併した結節性硬化症の1例

Tuberous sclerosis associated with subependymal giant cell astrocytoma and renal angiomyolipoma:a case report

I．はじめに

　結節性硬化症tuberous sclerosis（TS）は顔面皮脂腺腫，癲癇，精神発育遅延を三主徴とする常染色体優性遺伝性疾患であり，15万から30万人に1人の頻度で発生し，このうち家族発生例は14-35％，孤発例は60—80％とされている^5,8,9,11）．近年の分子生物学の進歩により，その原因遺伝子は染色体9番長腕^4）と16番^13）に同定され，前者はTSC1，後者はTSC2と命名されて多発性嚢胞腎との関連が指摘されている．TSは種々の腫瘍を合併することが知られており，われわれは脳室内の上衣下巨大細胞性星細胞腫subependymal giant cell astro—cytoma（SEGA）および腎血管筋脂肪腫renal angiomyo—lipoma（RAML）を合併したTSの1例を経験したので若干の文献的考察を加え報告する．

We presented a case of tuberous sclerosis (TS) asso-ciated with subependymal giant cell astrocytoma (SEGC) and renal angiomyolipoma (RAML). A 19-year-old female, who had been diagnosed as TS since she was 3 months old, was admitted with complaints of headache, vomiting, and abdominal pain. At 10 years of age, a ventricular tumor was shown on CT, and at 16 years of age, a ventricular peritoneal shunt was placed for obstructive hydrocephalus. On admission, an abdo-minal CT showed bilateral renal huge multicystic tumors with hemorrhage, which were diagnosed as RAMLs. CT and MRI showed an intraventricular tumor near the foramen of Monro, and this tumor was removed through a transcortical approach. The patholo-gical diagnosis was SEGA. Large sized RAMLs were identified by CT. Although TS is often associated with additional tumors in the brain, heart, kidney, and other organs, the combination of SEGA and RAML is quite rare. If ventricular peritoneal shunt is placed in a TS patient, risk of shunt malfunction should be taken into account.