结节性硬化是一种家族性常染色体显性遗传性疾病,但散发病例并不少见。现将我们所遇到的一个家系四代发病的调查结果报道如下。 先证者(Ⅲ_2):女性,28岁。因癫痫连续状态入院。查体:反应迟纯,智力差。鼻旁两颊有呈蝶形分布的暗红色圆形丘疹。颈、胸部散在丛状纤维瘤,腰背部多处脱色素斑。指(趾)甲呈瓦形凹陷或纵形隆起裂开,可见 Tuberous sclerosis is a familial autosomal dominant disease, but it is not uncommon for sporadic cases. Now we have encountered a family of four generations of the findings reported below. Probation (Ⅲ_2): Female, 28 years old. Due to continuous epilepsy admission. Physical examination: reaction to pure, poor intelligence. Nasal cheeks have a butterfly-shaped distribution of dark red round papules. Neck, chest scattered in plexiform fibroids, multiple back and back spots pigmentation. Finger (toe) A was watt-shaped depression or vertical uplift crack, can be seen