脂质沉积性肌病的诊断与鉴别诊断

Diagn6sis and differential diagnosis of lipid storage myopathy

目的:探讨脂质沉积性肌病(LSM)的诊断与鉴别诊断。方法:分析8例确诊为LSM患者的临床表现、病理改变、肌电图和实验室检查结果。结果:患者进行性肌无力、血清肌酶升高、病理检查发现肌纤维内脂滴明显增多,脂滴空泡呈“申珠”样排列。结论:ISM是肌纤维内脂肪酸代谢障碍导致的肌病,病理检查电镜是确诊LSM的主要依据,同时应与其他肌病鉴别。

Objective： To study the diagnosis and differential diagnosis of LSM. Method： 8 cases of LSM are analyzed with the clinic, pathology, elcctromyogram and lab data. Result： Muscle weakness, enzyme raised and muscle biopsies show accumulation of lipid in muscle fibers. Conclusion： LSM is a myopathy with fatty acid metabolism disorder.