结节性硬化症多系统损害影像学表现

Imaging manifestations of multiple system lesions in patients with tuberous sclerosis

目的探讨结节性硬化症(TSC)多系统损害影像学表现.方法回顾性分析28例 TSC患者的临床及影像学表现.结果 28例TSC患者均有脑异常改变,包括室管膜下结节28例,皮层结节25例,脑白质异常15例,室管膜下巨细胞星形细胞瘤并脑积水2例.脑外病变包括肾血管平滑肌脂肪瘤10例,椎体、椎弓骨质局限性硬化5例,肝脏错构瘤4例,肺淋巴管肌瘤病3例和视网膜错构瘤2例.结论 TSC主要累及脑,可并存多系统损害;影像学检查有利于明确诊断.

Objective To explore imaging manifestations of multiple system lesions in patients with tuberous sclerosis (TSC).Methods Twenty-eight TSC patients were collected,and their clinical data and imaging manifestations were analyzed retrospectively.Results All 28 patients with TSC had abnormal brain changes,including subependymal nodules in all 28 cases,cortical nodules in 25 cases,white matter abnormalities in 15 cases,subependymal giant cell astrocytoma combined with hydrocephalus in 2 cases.Extracerebral lesions were observed,including renal angiomyolipoma in 10 cases,localized sclerosis of vertebral body and vertebral arch in 5 cases,hepatic hamartoma in 4 cases,pulmonary lymphangiomyomatosis in 3 cases and retinal hamartoma in 2 cases.Conclusion Tuberous sclerosis mainly involve the brain,and multi-system damages can also coexist.Imaging examination is helpful to definite diagnosis.