以臂丛神经损害为首发症状的遗传性压力易感性周围神经病一例临床表型及基因突变分析  

Analysis of clinical phenotype and genetic mutation on one case of hereditary neuropathy with liability to pressure palsies presenting brachial plexus injury as the first manifestation

作　　者：刘晴 陈海[1] 雷霖[1] 朱文佳[1] 邸丽[1] 卢岩[1] 王敏[1] 王锁彬[1] 笪宇威[1] LIU Qing, CHEN Hai, LEI Lin, ZHU Wen-jia, I）I Li, LU Yah, WANG Min, WANG Suo-bin, DA Yu-wei(Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China)

机构地区：[1]首都医科大学宣武医院神经内科,北京100053

出　　处：《中国现代神经疾病杂志》2018年第2期123-127,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：北京市属医院科研培育计划项目(项目编号:PX2017023)~~

摘　　要：目的总结以臂丛神经损害为首发症状的遗传性压力易感性周围神经病的临床表型和基因突变特点。方法与结果男性患者,46岁,急性起病,主要表现为左侧肩部不适感伴左上肢无力2月余;实验室和影像学检查无特殊;神经电生理学提示四肢广泛性神经传导异常,以左侧臂丛上干损害为主;基因检测显示PMP22基因杂合缺失突变,明确诊断为遗传性压力易感性周围神经病。予改善循环和营养神经等对症治疗。出院后2个月随访,左上肢肌力基本正常。结论以臂丛神经损害为首发症状的遗传性压力易感性周围神经病临床少见,应注意与遗传性神经痛性肌萎缩和炎性脱髓鞘性多发性神经根神经病相鉴别。ObjectiveTo summarize the features of clinical phenotype and genetic mutation of hereditary neuropathy withliabilitytopressure palsies（HNPP）presenting brachial plexus injury as the first manifestation.MethodsandResultsA 46-year-old male patient showed acute onset.He mainly suffered from left shoulder discomfort with left upper limb weakness for 2 months.The results of laboratory and imaging examination were normal,and neuroelectrophysiology showed peripheral nerve injury of limbs,mainly the upper trunk injury of left brachial plexus.Gene detection showed loss of heterozygosity of PMP22 gene,therefore the patient was clearly diagnosed as HNPP.He was treated by improving circulation and nutrition support,andthe left upper extremity muscle strength was recovered to normal after2 months of follow-up.ConclusionsHNPP with brachial plexus injury as the first manifestation is rare,and should be differentiated from hereditary neuralgic amyotrophy（HNA）and inflammatory demyelinating polyradiculoneuropathy（IDP）.

关 键 词：遗传性运动和感觉性神经病 疾病遗传易感性 臂丛 髓磷脂蛋白质类 基因 突变 肌电描记术 

分 类 号：R745[医药卫生—神经病学与精神病学]