脂质沉积性肌病18例临床分析

Clinical analysis of 18 cases of lipid depositional myopathy

目的分析临床上少见的脂质沉积性肌病患者的临床表现和病理特征。方法收集我院经光镜和/或电镜检查后确诊的脂质沉积性肌病患者18例,分析其临床表现、肌电图、心肌酶学以及肌肉组织病理活检特点。结果脂质沉积性肌病的主要临床特点为四肢近端肌无力和对运动不耐受;血清肌酶普遍升高;肌电图可呈典型肌源性损害改变;肌肉活检均可见脂质沉积特征性改变。病理示肌纤维内可见大量细小空泡或裂隙形成,油红O染色显示肌纤维内脂滴含量明显增多。结论 LSM临床表现为非特异性肌无力,病理改变以肌纤维内脂滴沉积为主,小剂量泼尼松龙治疗有效。

Objective To analyze the clinical and pathological characters of lipid storage myopathy.Methods 18 cases of lipid storage myopathy diagnosed by muscle biopsies with microscopic examination were collected in order to analyze the charateristics of the clinical manifestation,EMG,serum creatine kinase and pathological changes by muscle biopsy.Results The main clinical manifestation of this disease was characterized by limbs muscle weakness proximal and sports intolerance.The level of serum creatine kinase most increases and the EMG may appear as typical myogenic damage.And the typical change of lipid storage can be found by every muscle biopsy.Pathology in muscle fibers showed the formation of a large number of small lvacuoles and cracks.Oil red lipid droplets in muscle fibers significantly increased.Conclusion The clinical manifestations of LSM are nonspecific muscle weakness.Lipid droplet is the main pathological change of muscle fibers.Treatment with small amount of prednisolone is effective.