脂质沉积性肌病的临床分析(附2例报道)

Clinical Characteristics of Lipid Storage Myopathy(Two Cases Report)

目的:对2例脂质沉积性肌病(LSM)的临床资料予以分析报道。方法:收集2例经病理检查确诊的LSM病例的临床资料,结合相关文献分析其临床表现、病理特征和实验室检查结果。结果:LSM临床以肢带肌近端无力为主要表现,有明显的运动不耐受特点,部分受累肌有压痛;肌电图示以肌源性损害为主;肌酶以肌酸激酶轻中度升高为主,对糖皮质激素反应早且明显;病理特征为肌纤维内有大量脂质颗粒沉积,并以Ⅰ型肌纤维为主。结论:LSM以肢带型肌无力综合征为临床表现时极易误诊为多发性肌炎等,确诊依赖于肌肉病理学检查。

Aim： To report two cases of lipid storage myopathy. Methods： Clinical material of the two patients with lipid storage myopathy and associated literatures were analyzed retrospectively. Results： Both patients were chronic onset and presented with proximal muscle weakness, accompanied by intolerance to exercise. Pain involved in partial muscle were found. Electromyogram showed myogenic changes mostly. Low-grade to moderate increase of creatine kinase in serum was detected. Muscle biopsy study showed markedly increased lipid droplets in muscle fibers, lipid accumulation was most marked in type I fibers. Both patients had a dramatic response to glucocorticoid treatment. Conclusion： Mistake in diagnosis of lipid storage myopathy is frequently made for its similar clinical features to other muscular diseases, such as polymyositis. Muscle biopsy is necessary for the diagnosis of this disease.