脂质沉积性肌病三例误诊分析  

Clinical analysis of misdiagnosed lipid storage myopathy

作　　者：吴淑嵚 李天炼[2] 

机构地区：[1]海南省海口市美兰区演丰中心卫生院,571129 [2]海南省人民医院神经内科,157031

出　　处：《中外妇儿健康（学术版）》2011年第4期7-8,共2页

摘　　要：目的:分析3例被误诊的脂质沉积性肌病的临床及病理特点,探讨脂质沉积性肌病被误诊的原因。方法:总结3例误诊的脂质沉积性肌病患者的临床特点、肌活检资料,并复习相关文献。结果:3例患者均以四肢近端无力和运动不耐受为首发症状,被误诊为重症肌无力、多发性肌炎或假肥大型肌营养不良,经肌活检证实为脂质沉积性肌病。结论:脂质沉积性肌病临床表现为非特异性肌无力,应与相关肌病鉴别,病理检查是确诊该病的主要依据。Objective：To study the clinical and pathological features of 3cases of misdiagnosised lipid storage myopathy（LSM）,and further discover the reasons of diagnosis error in this disease.Methods：The clinical feature and pathology of the 3patients were analyzed and the related documents were reviewed.Results：The 3patients who presented myasthenia with proximal of extremities as well as intolerance of exercises were once mistakenly diagnosed as myasthenia gravis,polymyositis or Duchenne/Becker muscular dystrophy.They were confirmed to be LSM by muscle biopsies.Conclusion：The clinical manifestations of LSM are nonspecific muscle weakness which should be differentiate with related myopathy,the definite diagnosis is dependent on muscle biopsies.

关 键 词：脂质沉积性肌病 鉴别诊断 

分 类 号：R746[医药卫生—神经病学与精神病学]