腓骨肌萎缩症4C型1例  

Charcot-Marie-Tooth disease 4C:A case report

作　　者：徐叶子 曾昭豪 杨英 李晓婷 汪露 岑燕梅 毕伟[1] XU Yezi;ZENG Zhaohao;YANG Ying;LI Xiaoting;WANG Lu;CENG Yanmei;BI Wei(Department of Neurology,The First Affiliated Hospital,Jinan University,Guangzhou 510632,China)

机构地区：[1]暨南大学附属第一医院神经内科,广州510632

出　　处：《中国神经精神疾病杂志》2023年第4期234-237,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：广州市科技计划项目(编号:202102010099)。

摘　　要：报告1例腓骨肌萎缩症4C型病例。患者47岁女性,渐进性双下肢无力伴行走不稳7年。神经系统查体:弓形足,宽基步态。双眼诱发水平及垂直眼震。臀部以下肌萎缩,鹤腿征,双下肢远端肌力Ⅳ+级,四肢腱反射减弱。闭目难立征睁眼及闭眼(+),卧立试验(+),轮替试验(+),反跳试验(+)。肌电图(运动神经)示双侧正中神经中重度脱髓鞘,尺神经轻度-重度混合型病损(脱髓鞘为主),双侧腓总神经和胫神经中重度混合型病损。基因检测结果显示SH3TC2基因C.3143T>C变异。诊断为腓骨肌萎缩症4C型。予康复治疗后,患者行走平衡较前好转。报告本病例旨在增强对该病认识,提高临床医生对该病早期识别和诊断。We here reported a female patient with Charcot-Marie-Tooth disease 4C.Patient developed progressive bilateral lower extremity weakness with walking instability for 7 years.Neurological examination revealed that bowed feet,broad-based gait.In addition,horizontal and vertical nystagmus was evoked in both eyes.There was muscle atrophy below the hip,crane leg sign,grade IV+distal muscle strength in both lower limbs,and diminished tendon reflexes in all four limbs.Patients also had Romberg test positive with either eyes open or closed,recumbent-upright test(+),alternating movement test(+)and rebound test(+).Electromyography showed that moderate to severe demyelinating of bilateral median nerves,mixed mild-severe neuropathology of the ulnar nerve(predominantly demyelinating)and mixed moderate to severe neuropathology of bilateral common peroneal and tibial nerves.Genetic test results showed that SH3TC2 gene C.3143T>C variant,and thus the disease was diagnosed as peroneal muscular atrophy type 4C.After rehabilitation treatment,the patient's walking balance was improved.The purpose of this case report is to increase the understanding of the disease and to improve the early recognition and diagnosis of the disease by clinicians.

关 键 词：腓骨肌萎缩4C型 SH3TC2 神经电生理 共济失调 康复治疗 听力受损 基因靶向治疗 

分 类 号：R745[医药卫生—神经病学与精神病学]