一例腓骨肌萎缩症误诊病例报道及鉴别诊断思考

A case report of a misdiagnosis of peronial muscular atrophy and differential diagnosis of the disease

腓骨肌萎缩症(Peroneal Muscular Atrophy)又称Charcot-Marie-Tooth(CMT)病,为最常见的遗传性周围神经系统疾病。由于运动及感觉神经均可受累,也归属于遗传性运动感觉神经病(Hereditary Motor and Sensory Neuropathy,HMSN)的范畴,临床上为青少年,少数为婴儿起病,主要表现为下肢远端的肌无力、肌萎缩,运动神经传导速度减慢伴轻度感觉障碍为特征。该病多起病隐匿、进展缓慢,且存在显著的临床和遗传异质性,容易被漏诊、误诊,但又很少有对CMT误诊的记载,故笔者以1例CMT被误诊为戒,以期为临床CMT的诊断及鉴别诊断提供借鉴。

CMT（Peroneal Muscular Atrophy）and Charcot-Marie-Tooth（CMT）disease is the most common genetic diseases of the peripheral nervous system.The motor and sensory nerve may be involved,is also attributable to hereditary motor and sensory neuropathy（Hereditary Motor and Sensory Neuropathy,HMSN）category,clinical for adolescents,minority infant onset,showed lower extremity weakness,atrophy,motor nerve conduction velocity with mild sensory disturbance characteristics.The disease＇s onset progress is slow,and there is significant clinical and genetic heterogeneity,which is easy to misdiagnosis,but few records,so the author chooses 1cases of CMT were misdiagnosed as a warning,in order to make a clinical diagnosis of CMT.