肌病伴微管聚集患者六例临床特点

摘要

目的 报道6例肌病伴微管聚集患者的临床特点.方法 6例就诊于北京大学第一医院神经内科的肌病伴微管聚集的患者,回顾性分析其临床表现,并对所有患者进行肌电图检查和骨骼肌活体组织检查,对标本进行组织学、酶组织化学和电子显微镜检查.结果 6例均为男性散发患者,发病年龄5～50岁,例1、2以肢带型肌无力综合征为主要表现,其中例1逐渐出现活动后肌痛;例3出现持续性肌无力伴随多巴反应性肌张力不全;例4、5出现周期发作的四肢无力;例6主要表现为运动后肌痛.所有患者血钾正常,3例患者的血肌酸激酶轻度增高.肌电图检查例1、6出现神经源性损害,例4、5出现肌源性损害,其他2例无异常,例1、2低频重复刺激出现递减现象.所有患者均在Ⅱ型肌纤维内发现异常沉积物,占所有肌纤维的4%～40%.沉积物在改良Gomofi三色染色为红色,还原型辅酶Ⅰ四氮唑还原酶染色为显著深染,非特异性酯酶略深染,在琥珀酸脱氢酶和肌丝ATP酶染色不着色.电镜检查显示沉积物为大量平行排列的微管结构.结论 肌病伴微管聚集具有不同临床表现类型,可以伴随肌张力不全等其他系统损害,表现为肢带型肌无力综合征的患者也可以出现活动后肌痛.%Objectives To report clinical,electrophysiological and pathological features of myopathy with tubular aggregates.Methods The onset of the disease was between 5-50 years old in the 6 sporadic male cases.Skeletal muscle biopsy was performed for all cases.Specimens were examined histochemically,enzymhistochemically and electromicroscopically.Results Case 1 and 2 presented with limb girdle myasthenic syndrome.The case 1 developed exercise-induced cramps in the late stage.Case 3 complained about persistent weakness and Dopa-responsive dystonia.Case 4 and 5 were characterized by periodic paralysis.Case 6 showed exercise-induced cramps.Serum potassium was normal in all patients. Slight elevation of serum creatine kinase appeared in 3 cases.Electromyography showed neurogenic pattern in case 1 and 6,myogenic changes in case 4 and 5,and no abnormality in other 2 cases.Marked decrement of active potential amplitude was noted with low frequency repetitive nerve stimuli in case 1 and 2.Four percent to forty percent of muscle fibers showed focal material accumulation in the fibers,which involved mainly type 2 fibers in all cases.The material was stained bright red material with modified gomori trichrome,intensive staining with nicotinamide adenine dinucleotide-tetrazolium reductase,lack activity of succinate dehydrogenase and ATPase.Electron microscopy confirmed bundles of parallel micro-tubular structure in the muscle fiber.Conclusions Myopathy with tubular aggregates has various clinical subtypes and electromyographic pattern.Dystonia or other systemic symptoms could be noted in this disease.The limb girdle myasthenic syndrome can also be accompanied with exercise-induced cramps.