腓骨肌萎缩症的神经电生理及病理学特点(附2例报告)

Neuroelectrophysiological and pathological features of Charcot-Marie-Tooth disease(report of 2 cases)

目的探讨腓骨肌萎缩症(CMT)的神经电生理及病理学特点。方法回顾性分析2例腓骨肌萎缩症患者的神经电生理及病理学资料。结果本组患者主要表现为慢性进行性双下肢远端肌无力和肌萎缩,弓形足,伴有双上肢受累,腱反射消失,四肢感觉障碍。神经电生理检查显示神经传导速度减慢,神经源性损害;神经活检显示节段性脱髓鞘,部分区域"洋葱球样"改变;电镜显示有髓神经密度中度减少,髓鞘破坏;肌活检显示肌纤维萎缩呈角形。结论 CMT的神经电生理特点为神经源性损害;病理学特点为周围神经节段性脱髓鞘和神经源性肌萎缩。

Objective To explore the features of neuroelectrophysiological and pathological of Charcot-Marie-Tooth disease（CMT）.Methods The neuroelectrophysiological and pathological datas of 2 CMT patients were analyzed retrospectively.Results The clinical manifestations of the 2 cases were chronic progressive of lower limbs distal muscle weakness and muscle atrophy,bow foot,and with double upper limbs involved,the tendon reflexes were disappeared and sensory disturbance in limbs.Electrophysiological examination showed nerve conduction velocity decreased and neurogenic damages.Nerve biopsy showed that there were segmental demyelination and ＂onion ball＂ structure in some lesion.Electron microscope showed that the density of myelinated nerve fibers was moderate reduced and myelin damage.Muscle biopsy showed the muscle fibers atrophy with angle type.Conclusions The neuroelectrophysiology feature of CMT is neurogenic damages.The pathological features are segmental demyelination of peripheral nerve and neural atrophy.