脂质沉积性肌病三例误诊分析

Clinical analysis of misdiagnosed lipid storage myopathy

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,应与相关肌病相鉴别,病理检查是确诊该病的主要根据。

Objective To study the clinical and pathological features of 3 cases 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 3 patients were analyzed and the related documents were reviewed. Results The 3 patients 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 he differentiate with related myopathy, the definite diagnosis is dependent on muscle biopsies.