脂质沉积性肌病19例临床病理分析

目的分析临床少见的脂质沉积性肌病(LSM)临床特点和肌肉活检特征。方法收集我院LSM患者19例,分析临床表现、肌电图、肌酶、肌力等以及肌活检时组织结构和酶组化染色特点。结果LSM临床表现为四肢近端肌萎无力,运动不持久。肌力大多在III级左右,其中1例肌力为V级;实验室检查肌酶均有增高,患者血脂和载脂蛋白异常;肌电图检查为肌源性损害。病理特点为皮肤厚度增加,肌肉结构清楚,肉色浅,质软,病理诊断主要靠镜下以I型肌纤维为主的肌纤维空泡,脂肪染色(SBB)阳性。结论脂质沉积性肌病的确诊手段是肌肉活检的脂肪染色,具体分型还需进行生化检测各种酶缺陷。

Clinical and pathological study on 19 cases of lipid storage myopathy by muscle biopsies

Objective To analyze the clinical and pathological characters of lipid storage myopathy.Methods The clinical characters, ECG,serum CK level,muscle strength were collected in 19 cases of lipid storage myopathy, the staining of HE,Gomori,PAS,SBB,NADH,ATPase and CA in tissue of muscle biopsies were made,the morphologic features were observed under light microscopy. Results The patients showed muscle weakness,muscle power was 3～5 grade; the level of muscle enzymes increased and the level of free lipid was abnormal in serum;the results of ECG was myogenic.Some patients' skin became thick,muscle tissue were soft and discolored. Under light microscopy,typical accumulation of lipid in muscle fibers was found.Conclusion SBB of tissue in muscle biopsies are necessary to LMS's diagnosis,but it can't distinguish types.