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| 先天性肌营养不良1A型的临床表现和病理改变（附1例报道） | |
| 引用本文： | 朱雯华,赵重波,林洁,奚剑英,乔凯,黄俊,朱静静,汪寅,卢家红,吕传真.先天性肌营养不良1A型的临床表现和病理改变（附1例报道）[J].中国临床神经科学,2008,16(5):504-508. |
| 作者姓名： | 朱雯华 赵重波 林洁 奚剑英 乔凯 黄俊 朱静静 汪寅 卢家红 吕传真 |
| 作者单位： | 1. 复旦大学附属华山医院神经内科复旦大学附属华山医院神经内科 2. 复旦大学附属华山医院神经内科复旦大学上海医学院神经病学系,200032 3. 神经科肌电图室复旦大学上海医学院神经病学系,200032 4. 神经病理室,200040;复旦大学上海医学院神经病学系,200032 |
| 摘 要： | 目的：探讨先天性肌营养不良1A型的临床和病理特点。方法：回顾分析我院收治的1例先天性肌营养不良1A型轻症患者的临床表现和肌肉病理改变，并结合复习国内文献报道的5例病例。结果：患者均干出生后6个月内起病，多表现为新生儿肌张力低下，出生1年后头颅MRI均有特征性的白质改变，部分病例伴有关节挛缩、智能发育迟缓、癫痫和周围神经损害。肌肉病理均呈典型肌营养不良改变，伴Merosin蛋白完全缺失。结论：头颅MRI是先天性肌营养不良1A型的重要诊断依据，肌肉免疫组化对确诊尤为关键。 |
| 关 键 词： | 先天性肌营养不良 Merosin缺陷 层黏连蛋白-α2 脑白质病变 |
Clinical and Pathological Features of Muscular Dystrophy Congenital 1A |
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| ZHU Wen-Hua,ZHAO Chong-Bo,LIN Jie,XI Jian-Ying,QIAO Kai,HUANG Jun,ZHU Jing-Jing,WANG Ying,LU Jia-Hong,LV Chuan-Zhen.Clinical and Pathological Features of Muscular Dystrophy Congenital 1A[J].Chinese Journal of Clinical Neurosciences,2008,16(5):504-508. | |
| Authors: | ZHU Wen-Hua ZHAO Chong-Bo LIN Jie XI Jian-Ying QIAO Kai HUANG Jun ZHU Jing-Jing WANG Ying LU Jia-Hong LV Chuan-Zhen |
| Institution: | ZHU Wen-Hua~1 ZHAO Chong-Bo~1 LIN Jie~1 XI Jian-Ying~1 QIAO Kai~2 HUANG Jun~2 ZHU Jing-Jing~3 WANG Ying~3 LU Jia-Hong~1 LV Chuan-Zhen~1 1 Department of Neurology,2 Department of Electromyography,3 Department of Neuropathology,Huashan Hospital,Fudan University,Shanghai 200040,China |
| Abstract: | Aim:To investigate the clinical and pathological features of muscular dystrophy congenital 1A (MDC1A).Methods:We report a case diagnosed as MDC1A with a mild phenotype,and review 5 published Chinese cases to characterize the spectrum of their clinical features and pathological changes.Results:All cases were presented within the first 6 months of life with neonatal hypotonia or weakness.Brain magnetic resonance imaging(MRI)studies invariably show white matter changes after the age of 1 year.Contractures, men... |
| Keywords: | muscular dystrophy congenital Merosin-deficiency laminin-α1 leucoencephalopathy |
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