腓骨肌萎缩症的临床、病理学及遗传学特点(附1家系报告)  

Clinical,pathological and hereditary features of Charcot-Marie-Tooth disease(report of 1 family)

作　　者：牛琦[1] 侯祚琼 金庆文[1] 张炳峰[3] 王发胜 丁新生[1] 张平[5] 

机构地区：[1]南京医科大学第一附属医院神经科 [2]南京医科大学第一附属医院整烫科 [3]南京医科大学第一附属医院检验科 [4]盱眙县人民医院内科 [5]南京医科大学第二附属医院病理科

出　　处：《临床神经病学杂志》2011年第2期81-83,共3页Journal of Clinical Neurology

基　　金：江苏省自然科学基金项目(BK2007607)

摘　　要：目的探讨腓骨肌萎缩症(CMT)的临床、病理学及遗传学特点。方法对1例CMT患者及其家系的临床资料进行回顾性分析。结果本家系患者主要表现为先天性慢性进行性双下肢远端肌无力和肌肉萎缩,部分伴双上肢受累;腱反射消失,双下肢感觉减退;弓形足。神经电生理检查示周围神经损害,正中神经传导速度>38 m/s。先证者肌肉病理示Ⅰ型纤维萎缩;腓肠神经病理示有髓纤维的数量减少,轴索萎缩,未见洋葱头样结构。家系调查显示为X连锁隐性遗传。Cx32基因检测未见有意义突变。结论该家系临床与病理表现属CMT2型,遗传特点系X连锁隐性遗传,致病基因尚不明确。Objective To investigate the clinical,pathological and hereditary features of Charcot-Marie-Tooth disease（CMT）.Methods Clinical data of a patient with CMT and his family were analyzed retrospectively.Results The main clinical manifestations of the patients in the family were congenital chronic progressive muscle weakness and atrophy at the distal end of both lower extremities,and some with upper extremities,disappearance of tendon reflexes,hypoesthesia of both lower extremities,and pes cavus.Electrophysiological examination showed peripheral nervous lesion.The median nerve conduction velocities were all 38 m/s.The muscle biopsy of proband showd atrophy of Ⅰ type muscle fiber.The sural nerve biopsy showed the number of myelinated fibers decreased,the axonal atrophy,but the onion-like structures was not found.Family survey showed X-linked recessive inheritance.Cx32 gene was screened and no useful mutation was found.Conclusions The clinical and pathological manifestations of this family appertain to CMT2,and the hereditary features appertain to X-linked recessive inheritance.The pathogenic gene is still unclear.

关 键 词：腓骨肌萎缩症 家系 神经活检 Cx32基因 

分 类 号：R746.4[医药卫生—神经病学与精神病学]