脂质沉积性肌病临床和病理特征分析

Clinical and pathological characteis of lipid storage 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,并探讨其病因及治疗效果。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6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;肌电图可呈慢性肌源性损害和/或慢性神经源性损害改变;肌肉活检均可见脂质沉积特征性改变。予低脂、低蛋白、高碳水化合物饮食,B族维生素及神经营养药物治疗后,患者肌无力症状有所改善。结论脂质沉积性肌病的诊断需依赖临床表现、心肌酶学、肌电图和肌肉活检、肉毒碱检查等相结合,其中肌肉活检发现肌纤维内脂滴增多是目前临床上诊断此病的重要方法和指标,其具体分型还需进行生化检测;肾上腺皮质激素、肉毒碱、维生素、及含有丰富肉毒碱食物等综合治疗对改善临床症状有效,明确病因具体分型后可给予针对性治疗。

Objective To analyze the clinical and pathological characters of lipid storage myopathy, and to investigate the etiology and therapeutic effects. Methods Six cases of lipid storage myopathy diagnosed by muscle biopsies with microscopic and/or electronic 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 chronic myogenic damage and/or myogenic damage. And the typical change of lipid storage can be found by every muscle biopsy. The symptoms of patients got ameliorated after being administrated with drugs,such as vitamin B, ncurotrophy drugs, low fat and protein and high carbohydrate diet. Conclusions Current diagnosis of the disease is depended on the clinical manifestations, serum creatine kinase, EMG and muscle biopsy, earnitine content, and the confirmed diagnosis is clue up to pathological features of muscle biopsy, and the specific typing can be obtained by biochemistry examination. The combined therapies with corticoid, vitamin and diet abundent of carnitine are effective to attenuate the clinical symptoms, and specific treatments will be given if identified etiological factors are dicovered after biochemistry examination.