结节性硬化症一家系临床及影像特点  

Clinical and neuroimaging features of tuberous sclerosis complex in a Chinese family

作　　者：李秀娥[1] 苏宁[2] 刘国荣[1] 李月春[1] 庞江霞[1] 

机构地区：[1]包头市中心医院神经内科,内蒙古014040 [2]包头市中心医院MRI室,内蒙古014040

出　　处：《脑与神经疾病杂志》2015年第2期114-117,共4页Journal of Brain and Nervous Diseases

摘　　要：目的通过报道一个结节性硬化症患者家系,探讨其临床、遗传学及神经影像特点,为临床提供帮助。方法对本院神经内科门诊确诊的1例结节性硬化症患者即该家系中的先证者进行临床、神经影像学、脑电图、心脏及全腹超声检查,对家系中其余患者进行追踪,绘制家系图谱。结果该患者家族成员中共有结节性硬化症4例,3例患者均有面部血管纤维瘤和癫痫发作,并有不同程度智能减退,1例有肾脏肿瘤。先证者头颅MRI示侧脑室周围多发突入脑室内结节,脑皮质内多发结节,增强未见强化。头颅CT示多发钙化结节。脑电图示癫痫样放电。结论结节性硬化症为常染色体显性遗传疾病,典型的临床表现为血管纤维瘤、癫痫发作和智能减退,头颅MRI和CT表现为室管膜下多发钙化结节,向脑室内突入,脑皮质及皮质下多发结节。诊断主要根据家族遗传史、典型的临床表现及头颅MRI、CT特点。Objective To investigate the clinical, genetic and neuroimaging characteristics of the tuberous sclerosis complex （ TSC） by a report about the family with TSC.Methods The clinical features, neuroimaging, EEG, cardiac and abdominal ultrasound were performed in the proband from the family of TSC.The conditions of other members were traced and their pedigree trees were drawn.Results There were 4 cases with TSC in the family, 3 cases with facial angiofibroma and epileptic seizure, and hypophrenia in different degrees, one case with kidney tumor.The multiple nodules in the proband were found protruding from the ventricle surface and in cerebral cortex by MRI,they were not enhanced in brain cortex.The CT findings showed that the multiple nodules were calcified.The EEG presented as epileptiform discharges.Conclusion The TSC was an autosomal dominant genetic disease, the typical clinical manifestations were angiofibroma, seizures and hypophrenia.The subependymal nodules were calcified, and inburst into ventricle, and there were multiple nodules in brain cortex and subcortex.The diagnosis of TSC was primarily based on family history, typical clinical manifestations and brain MRI, CT characteristics.

关 键 词：结节性硬化症 系谱 磁共振成像 

分 类 号：R596[医药卫生—内科学]