光滑脑患者11例临床表现及磁共振成像特点  

Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly

作　　者：李冰肖[1] 郭丽[1] 宋元宗[1] 

机构地区：[1]暨南大学附属第一医院儿科,广东广州510632

出　　处：《南方医科大学学报》2011年第3期482-486,共5页Journal of Southern Medical University

基　　金：国家重点基础研究发展计划(2001CB510305);广东省科技计划(2004B50301018)~~

摘　　要：目的分析总结不同类型光滑脑畸形的临床表现及磁共振成像特点,为本病临床诊断及分型提供临床和影像学参考依据。方法回顾性分析2005年7月~2009年7月我科诊断的11例光滑脑畸形患儿的症状、体征、神经行为评估资料、实验室结果及核磁共振成像发现。结果 11例光滑脑中孤立性光滑脑4例,Miller-Dieker综合征3例,鹅卵石样光滑脑3例,光滑脑伴小脑发育不全1例。临床表现以精神发育迟滞、运动障碍、小头畸形、癫痫、听力障碍、面部畸形等为主。鹅卵石样光滑脑还伴有先天性肌营养不良及眼球发育异常。光滑脑伴小脑发育不全型患儿伴有共济失调表现。经典型光滑脑患者头颅MRI表现为大脑半球脑回消失或增宽,脑皮层增厚,白质减少,灰-白质界面光滑。鹅卵石样光滑脑畸形患者大脑皮层增厚,脑回少而呈鹅卵石样外观。光滑脑伴小脑发育不全型表现为巨脑回畸形,伴小脑半球体积缩小,海马发育不良。结论光滑脑是异质性明显的脑发育畸形,临床表现及MRI特点可作为本病临床诊断及分型的参考依据。Objective To analyze the clinical manifestations and magnetic resonance imaging（MRI） features of lissencephaly of various types and provide clinical and imaging evidences for the clinical diagnosis of the disease.Methods The clinical symptoms and signs and the findings in neurobehavioral evaluation,laboratory examination and magnetic resonance imaging（MRI） of 11 cases of lissencephaly were investigated retrospectively.Results The 11 patients consisted of 4 with isolated lissencephaly sequence,3 with Miller-Dieker syndrome,3 with cobblestone lissencephaly,and 1 with lissencephaly with cerebellar hypoplasia.The main clinical manifestations included mental retardation,developmental delay,microcephaly,epilepsy,hearing abnormality and facial malformation.Cobblestone lissencephaly presented with congenital muscular dystrophy and eye malformation,and lissencephaly with cerebellar hypoplasia showed ataxia manifestations.In terms of MRI features,classical lissencephaly displayed absent or broad cerebral gyri,thickened cortex and reduced white matter,smooth border between the gray and white matter,and thin white matter.Cobblestone lissencephaly displayed thick cortex and gyri deficiency with cobblestone surface.Lissencephaly with cerebellar hypoplasia presented with pachygyria,cerebellar hypoplasia and hippocampal dysplasia.Conclusion Lissencephaly is a developmental malformation of the brain with obvious heterogeneity,and the clinical manifestations and MRI features can be the evidences for a clinical diagnosis and classification of the disease.

关 键 词：光滑脑 脑神经元移行异常 临床特征 磁共振成像 

分 类 号：R445.2[医药卫生—影像医学与核医学]