脂质沉积性肌病2例报告并文献复习

Clinical and Pathological Features of Lipid Storage Myopathy:Two Cases Report and Literature Review

目的:探讨脂质沉积性肌病(LSM)的临床和肌肉病理特点。方法:分析2例脂质沉积性肌病患者的临床特点、实验室检查、肌活检资料,并复习相关文献。结果:LSM的主要临床特点为四肢近端肌无力和对运动不耐受,肌萎缩多不明显,血清肌酶轻中度升高,肌电图多呈肌源性损害;肌肉病理显示肌纤维空泡变性,脂滴明显增多,电镜也证实肌纤维内脂滴堆积。结论:LSM是一种少见的肌病类型,以肢体近端肌无力和对运动不耐受为主要表现,临床上多长期误诊,确诊依靠肌肉病理检查。

Objective：To investigate the clinical and pathological features of Lipid storage rnyopathy （LSM）. Methods： The clinical data and laboratory results of 2 cases were collected.muscle biopsies were done with routine and histochemical staining. Results;Weakness of the proximal limb muscles and fatigue were the prominent clinical manifestations. In mort of cases, atrophy was not significant,serum muscle enzymes were slightly or moderately elevated.and EMG presented myogenic features. Myopatholoical changes showed many vacuoles in the muscle fibers .Electron microscopic observation demonstrated excessive accumulation of lipid droplets. Conclusion：LSM is a rare myopathy. Weak ness of the proximal limb muscles ancl fatigue are the prominent clinical manifestations. It is often miscliagnosed for long time. The definite diagnosis of this disease dependes, on the muscle biopsy.