摘要
目的探讨脂质沉积性肌病(lipidstoragemyopathy,LSM)的临床表现及病理学特点。方法回顾分析7例LSM的临床表现、肌电图及肌肉活检病理改变。结果LSM的主要临床特点为亚急性或慢性起病,近端肌无力,症状呈波动性,血清肌酶有不同程度的升高,多数病人肌电图示肌源性损害,激素治疗有效。病理学特点为肌纤维内可见大量均匀的小筛孔样空泡,部分空泡融合成大泡或形成裂隙状。ORO染色证实筛孔样空泡为大量红染的脂肪颗粒充填,部分肌纤维破裂,伴脂肪颗粒堆积。受累纤维以Ⅰ型纤维为主。电镜证实肌纤维内脂滴堆积,其中1例伴有异常线粒体增多。结论LSM是一种以易疲劳和肌无力为主要临床表现的脂质代谢障碍性肌病,激素治疗可获得良好疗效。肌肉活检病理学检查是诊断LSM的重要手段。
Objective To study the clinical and pathological features of lipid storage myopathy (LSM).Methods The clinical data of 7 cases were collected and muscle biopsies were done with routine and histochemical staining.Light microscope and electron microscope studies were made.Results The clinical characters of the 7 patients were proximal weakness with increased muscle enzymes in the plasma.The light microscopic studies of muscle biopsy materials showed excessive amounts of fatty droplets in typeⅠmuscle fibers.Electron microscopic observation demonstrated excessive accumulation of lipid droplets and abnormal mitochondria in one case.Conclusion SLM was a complex disease with disorder of lipid metabolism.Fatigue and muscle weakness were the promient symptoms in LSM.Most cases had dramatic responses to corticosteroid therapy.Muscle biopsy has a significant value for the definite diagnosis of this disease.
