结节性硬化症 ,最好称为结节性硬化综合征 (ｔｕｂｅｒｏｕｓｓｃｌｅｒｏｓｉｓｃｏｍｐｌｅｘ ,ＴＳＣ) ,以强调多系统受累和临床表现的多变性 ,本病为常染色体显性遗传 ,面部血管纤维瘤、智力发育迟缓和癫痫是其典型三联征[1 ,2 ] 。虽然ＴＳＣ是常见的单基因疾病 ,发病率估 Tuberous sclerosis, best known as tuberous sclerosis complex (TSC), emphasizes multiple system involvement and variability in clinical manifestations. The disease is characterized by autosomal dominant inheritance, facial hemangioma, intellectual development Delayed and epilepsy is its typical triad [1,2]. Although TSC is a common monogenic disease, the incidence is estimated