脂质沉积性肌病的临床、神经电生理和骨骼肌病理分析  

Analysis of the clinical,neuro-electrophysiological and pathological features of the lipid storage myopathy

作　　者：吕海东[1] 瞿千千[1] 张燕[1] 陈芳[1] 钱琪[1] 秦东香[1] 李增富[2] 

机构地区：[1]河南省焦作市人民医院神经内科,河南焦作454002 [2]郑州大学第一附属医院神经内科,河南郑州450052

出　　处：《中风与神经疾病杂志》2012年第7期598-601,共4页Journal of Apoplexy and Nervous Diseases

基　　金：河南省卫生科技创新型人才工程专项经费资助项目(2010-10-18);河南省焦作市科技计划经费资助项目(焦科[2011]92)

摘　　要：目的探讨脂质沉积性肌病(LSM)的临床表现、神经电生理及肌肉病理特点。方法回顾分析16例LSM的临床表现、肌电图和神经传导、肌肉活检病理改变。结果 LSM主要临床特点为亚急性或慢性起病,以近端肌无力为主,症状呈波动性,肌无力重而肌萎缩轻。血清肌酶有不同程度的升高,肌电图多为肌源性损害,激素、核黄素治疗有效。临床上容易误诊为多发性肌炎、肌营养不良症、心肌炎、胃肠道疾病等。肌肉病理学特点为肌纤维内可见大量均匀的小筛孔样空泡,部分空泡融合成大泡或形成裂隙状。ORO染色证实筛孔样空泡被大量红染的脂肪颗粒充填,受累肌纤维以Ⅰ型纤维为主。4例患者行电镜检查可见肌原纤维间有大量脂滴沉积,其中1例伴有异常线粒体增多。结论 LSM是一种以易疲劳和肌无力为主要临床表现的脂质代谢障碍性肌病,肌无力较重而肌萎缩轻。神经电生理改变相对较轻,部分患者肌电图为肌源性损害。激素、核黄素治疗可获得良好疗效,肌肉活检病理学检查是诊断LSM的重要手段。Objective To investigate the features of clinical manifestations, EMG and pathology of lipid storage myopathy（LSM）. Methods Retrospective analysis of the features of clinical manifestations, nerve conduction and pathology of 16 LSM patients was done. Results Most LSM patients showed sub-acute or chronic with fluctuating proximal limbs weakness and slight muscle atrophy. The muscle enzyme of the patients had increased differently and most EMG showed myogenic lesions, but the treatments with hormones or riboflavin was usually invalid. LSM was often clinically misdiagnosed as polymyositis, muscular dystrophy, myocarditis and gastrointestinal disease. Muscle pathology was characterized by a large number of muscle fibers fulfilled with uniform of the sieve-like vacuoles, and parts of them confluent into a slit-like bubble. The presence of excessive lipid droplets in the Type I fibers was clearly seen with the oil red O staining. Electron microsco- py of 4 patients revealed there was a large amount lipid deposition between myofibrils, and one of them was accompanied by increasing of abnormal mitochondria. Conclusions Fatigue and weakness was the main clinical manifestations of LSM which belong to one of the lipid metabolism myopathy,with significant weakness and slight muscle atrophy. Hormones and riboflavin usually show a good effect, and muscle pathological examination is one of the most important way for LSM diagnosis.

关 键 词：脂质沉积性肌病 临床表现 神经电生理 肌肉病理 

分 类 号：R746[医药卫生—神经病学与精神病学]