光滑脑患者11例临床表现及磁共振成像特点-南方医科大学学报.PDF

·482 · 南方医科大学学报（J South Med Univ ） 2011;31(3) ·临床研究· 光滑脑患者11例临床表现及磁共振成像特点 李冰肖，郭 丽，宋元宗 暨南大学附属第一医院儿科，广东 广州 510632 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。 关键词：光滑脑；脑神经元移行异常；临床特征；磁共振成像 中图分类号：R 816.1 文献标志码：A 文章编号：1673-4254（2011）03-0482-05 Analysis of the clinical manifestations and magnetic resonance imaging features of 11 patients with lissencephaly LI Bing-xiao, GUO Li, SONG Yuan-zong Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510632, China Abstract: 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 reta