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LSM的临床特点、辅助检查及肌肉病理资料.结果 LSM的临床表现为进行性肌无力,以近端肌无力为主,伴肌萎缩;发作期血清肌酶轻、中度升高,血脂升高或正常,肌电图多为肌源性损害,合并神经源性损害;肌肉病理为I 型纤维受累重,肌纤维内散在大小不等的圆形空泡或缺损(脂质颗粒),线粒体受压变形;对激素治疗反应好.结论 临床表现和肌酶检查对LSM的诊断具有重要意义,确诊依靠肌肉病理活检,早期治疗效果好.%Objective To study the clinical and pathological features of lipid storage myopathy( LSM ).Methods Studying retrospectively the clinical data and laboratory results of 2 cases. Muscle biopsies were done with routine and histocheruical staining. Results Weakness of the proximallimb muscles and fatigue were the prominent clinical manifestations. Serum muscle enzymes were slightly or moderately elevated, and EMG presented myogenic features primaryly, partly consistent with neurogenic features. Myopatholoical changes showed many vacuoles in the muscle fibers. Electron microscopic observation demonstrated excessive accumulatidn of lipid droplets. Mitochondria deformed by compression. Type Ⅰ fibers were more severely affected. Treatment with glucocorticoid were effective.Conclusion Clinical manifestations and muscle enzymes examination are of great significance to the diagnosis of LSM. The definite diagnosis of this disease dependes on the muscle biopsy. When treated earlier, the effect is better.
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