脂质沉积性肌病八例临床病理研究

Studies of the clinicopathological changes of eight patients with lipid storage myopathy

目的 观察脂质沉积性肌病的病理形态学特点 ,并探讨其病因及治疗效果。方法 收集经光镜和电镜检查确诊的脂质沉积性肌病 8例 ,8例患者分别于股四头肌或者肱二头肌取活检 ,常规进行组织学和酶组织化学染色 ,光镜下观察 ,超薄切片 ,铅铀双染色 ,电镜下观察。并对 8例患者的临床治疗用药进行分析。结果 8例患者肌纤维内均有空泡及裂隙样改变 ,苏丹黑B及油红O脂肪染色示肌纤维内脂滴明显增加 ,电镜证实大量的脂肪滴堆积在残存的肌纤维中。病变为轻度者有 3例 ,中度有 2例 ,重度有 3例 ,其中 1例合并了糖原沉积病 ,1例合并细胞色素C氧化酶明显降低。使用肾上腺皮质激素治疗 7例有效 ,1例无效 ,合并维生素B2 及其他维生素等药物治疗效果好 ,肉毒碱治疗对系统性缺乏患者有显效。结论 脂质沉积性肌病确诊靠肌肉活检病理形态特征性改变 ,肾上腺皮质激素、肉毒碱、维生素、含有丰富肉毒碱食物综合治疗可获显效 ,由于病因有多种 ,明确某一种病因后可针对病因特定治疗。

Objective The clinicopathological analysis of eight patients with lipid storage myopathy are presented. The pathogeny and therapeutic effect are probed into. Methods Eight cases of lipid storage myopathy diagnosed by muscle biopsies with microscopic and electron microscopic examination are analyzed. Quadriceps or biceps were biopsied. Muscle samples were stained with routine histology and histochemical enzyme and inspected by microscopy. Thin sections were stained with uranyl acetate followed by lead citrate prior to examination in a electron microscopy. Also, the therapeutic drugs of eight patients were evaluated. Results Vacuole or crack of muscular fibers involved all eight patients. Sudan Black B and Oil Red O stains demonstrated increase of lipid droplets within muscle fibers. Ultrastructural examination revealed numerous lipid droplets dispersed throughout the residual myofilaments. Three cases with pathologic changed muscular fibers occupying less than 1/5 were belong to low grade, two cases (between 1/5 to 1/3) were moderate, three cases (more than 1/2) were severe. There was one case accompanying glycogen storage disease. One case was concomitant with deficiency of cytochrome C oxidase. After prednisone treatment, seven cases had greatly improved and one case failed to respond to. Treatment using vitamin B 2 together with other vitamins brought about a striking effect. Carnitine was very effective on the patients with system deficiency of carnitine. Conclusions The pathogeny of lipid storage myopathy is varied. The confirmed diagnosis is depend on pathological features of muscle biopsy. Treatment with prednisone, carnitine, vitamins and food containing carnitine rich is very effective. It should be select the special treatment method if the pathogeny is clear.