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结节性硬化(TS)是一种罕见的常染色体显性遗传病,其特征是:皮脂腺瘤、精神发育迟缓和癫痫发作三联症。自从Boumeville初次描述后,与这种神经皮肤综合征有关的众多异常, 包括视网膜晶状体瘤、心脏横纹肌瘤、肾脏血管肌脂瘤和肺及骨的错构瘤已有陆继报告。在中枢神经系统发现细胞结构紊乱的皮质结节、室管膜下“烛光沟状(candle gutterings)”改变、颅内钙化和巨细胞星形细胞瘤。尽管动脉异常多见于肾脏的脉管系统,但也有10例颅内动脉瘤的报告。
Tuberous sclerosis (TS) is a rare autosomal dominant genetic disorder characterized by sebaceous adenomas, mental retardation, and triad of seizures. Numerous anomalies associated with this neurodermal syndrome, including retinal leukoma, cardiac rhabdomyoma, renal angiomyolipoma, and lung and bone hamartoma, have been reported after Boumeville first described. Cortical nodules with disorganized cellular structures in the central nervous system, “gutter” changes in the subependymal, intracranial calcifications, and giant cell astrocytoma. Although arterial abnormalities are more common in the renal vasculature, there are also 10 reports of intracranial aneurysms.