线状体肌病1例报告并文献复习  

One case of nemaline myopathy and literature review

作　　者：杨威[1] 农光民[2] 

机构地区：[1]南方医科大学附属深圳宝安医院儿科,广东深圳518101 [2]广西医科大学第一附属医院儿科,广西南宁530021

出　　处：《临床儿科杂志》2009年第11期1047-1050,共4页Journal of Clinical Pediatrics

摘　　要：目的探讨线状体肌病的临床、病理特点和目前相关研究。方法分析1例线状体肌病患儿临床表现、病理活检、电镜超微结构观察并结合文献复习。结果患儿5岁时出现双下肢无力,病情进展缓慢,近端肌和远端肌均有受累。血清酶学正常,肌电图示所检肌肉无自发电位,神经传导均有不同程度异常。肌肉病理改变为肌纤维萎缩变细小,间质有少量纤维组织及脂肪细胞增生取代萎缩消失的肌纤维,肌纤维横纹清晰可见,无炎症细胞浸润。超微结构观察:核旁肌纤维中可见线状体,肌纤维呈灶性断裂缺失,肌纤维间隙增宽,肌萎缩,线粒体基本正常,未见线粒体内出现类晶体物,肌原纤维损害,肌丝溶解融合不清,部分局部可见肌节受挤压而排列紊乱或消失。通过电镜观察,结合临床,诊断为线状体肌病。结论肌肉病理活检是确诊线状体肌病的唯一方法,而电镜为最后诊断该病的先决条件。Objective To investigate pathogenesis, clinical and pathological feature of a ease of nemaline myopathy and review of relevant researches. Methods A case of an 8-year-old girl with muscle weakness and her clinical presentation, family history, changes of serum enzymo｜ogy and EMG, characteristic of light and electron microscopic studies were described. The earlier literature and new genetic findings concerning these muscle abnormalities are also briefly summarized. Results Nemaline myopathy is diagonosed by clinical manifestation and observed result of electron microscopy. Conclusions Muscle biopsy is the only way to diagnose nemaline myopathy and electron microscopy plays an important role in diagnosing it.

关 键 词：线状体 肌病 病理活检 电镜 

分 类 号：R725.9[医药卫生—儿科]