肌管聚集性神经肌肉病二例报告  

Myopathy with tubular aggregates: report of two cases

作　　者：袁云[1,2] 元小冬 陈清棠[1,2] 吴丽娟[1,2] 

机构地区：[1]北京医科大学第一医院神经内科 [2]河北省开滦矿物局医院神经内科

出　　处：《中华神经科杂志》1999年第2期99-101,共3页Chinese Journal of Neurology

摘　　要：目的报道２例类似重症肌无力的肌管聚集性神经肌肉病的神经肌肉接头形态改变。方法对２例病人进行临床、电生理和肌肉病理检查。结果例１为５３岁男性，主要表现为进行性肌无力和肌疲劳现象。血清抗乙酰胆碱受体抗体阴性，重复神经刺激出现肌电图波幅低频递减，远端肌电图显示神经源性损害。例２为２０岁男性病人，表现为肌无力和肌疲劳现象，肌电图重频刺激出现明显递减现象。２例病人的肌肉病理检查均发现，在Ⅱ型肌纤维内出现ＮＡＤＨＴＲ深染的沉积物，电镜检查证实沉积物为管聚集。神经肌肉接头出现神经末梢脱失、变性和再生，相应的突触后膜出现初级和次级皱褶缺乏，部分神经末梢内突触小泡消失。结论类似重症肌无力的肌管聚集性神经肌肉病可能为一种新的神经肌肉接头疾病，突触神经末梢病变以及突触小泡的缺乏可能是此病的主要变化。Objectives To report two cases of myopathy with tubular aggregates, which appeared to be mimicking myasthenia gravis and to study the ultrastructural changes of the neuromuscular junctions. Methods The two cases were studied clinically, electromyographically and serologically. Muscle biopsies were performed and the specimens were studied histologically, histochemically and ultrastructurally. Results Case 1, a 53 year old man, complained about progressive muscle weakness and easy fatigability on all his extremities. Electromyography (EMG) showed neurogenic features in the distal muscles and decrement response was showed with low frequency repetitive nerve stimuli. The acetylcholine receptor antibody test was negative. Case 2,a 20 year old man with the clinical features mimicking myasthenia gravis. The decrement response was found to be with low frequency repetitive nerve stimuli. Myopathologic study showed tubular aggregates in type Ⅱ fibers in both cases. Moreover, ultrastructural investigation of the end plates revealed degeneration and regeneration of nerve terminals. The post junctional membranes showed mild loss of secondary clefts. The loss of vesicles was found in some nerve terminals. Conclusions Our Results of observation suggested that myopathy with tubular aggregates presenting certain features of myasthenia gravis might be related to a new disorder of neuromuscular junctions in which the pathological changes of nerve terminals could play an important role.

关 键 词：神经肌肉疾病 重症肌无力 神经肌肉接头 

分 类 号：R746.102[医药卫生—神经病学与精神病学]