光滑脑一例报告并文献复习  

Lissencephaly: A Case Report and Literature Review

作　　者：刘京京[1] 马秀伟[1] 辜蕊洁[1] 侯豫[1] 封志纯[1] 

机构地区：[1]北京军区总医院附属八一儿童医院神经发育科,北京100700

出　　处：《临床误诊误治》2013年第10期73-75,共3页Clinical Misdiagnosis & Mistherapy

摘　　要：目的分析光滑脑(lissencephaly,LIS)的临床特点及头颅MRI特征,以加强对该病的认识。方法对1例LIS患儿的临床资料进行回顾性分析,并进行文献复习。结果患儿表现为精神运动发育落后及反复抽搐,头颅MRI示双侧额颞顶枕叶皮层光滑无脑回,灰白质分辨不清,双侧脑室对称性扩大,轴位上脑外形呈"8"形,诊断为LIS。家长放弃治疗,随访1月余,患儿死亡。结论 LIS患儿以精神运动发育落后及抽搐为主要临床特征,头颅MRI检查可确诊,预后差。Objective To analyze the clinical characteristic and magnetic resonance imaging （MRI） feature of lissen- cephaly （LIS） to strengthen the understanding of the LIS. Methods Clinical data of one patient with LIS was retrospectively analyzed, and related literature was reviewed. Results The main clinical manifestations of the male patients at the age of 5 months of 5 months old were psychomotor development retardation and repetitious epilepsy. Cranial MRI showed complete ab- sence of sulcation, a smooth brain surface, difficult separation of grey matter with wide, shallow and bilateral sylvian fissures, which resulted in an ＂8＂ appearance. The LIS was diagnosed by MRI. The patient was discharged after symptomatic treatment with poor effect. After a follow-up for more than a month, the patient died. Conclusion The main clinical features of LIS are mental retardation and epilepsy with poor prognosis, which can be confirmed by cranial MRI.

关 键 词：遗传性疾病 光滑脑 磁共振成像 

分 类 号：R748[医药卫生—神经病学与精神病学]