遗传性压力易感性周围神经病(附1例经基因确诊病例报告)  

A CASE REPORT OF HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY CONFIRMED BY GENETIC DETECTION

作　　者：姜良军[1] 车峰远[1] 柴永宏 JIANG Liang-jun CHE Feng-yuan CHAI Yong-hong(Linyi City People＇s Hospital, Linyi 276003, Chin)

机构地区：[1]临沂市人民医院,山东临沂276003 [2]山东医学高等专科学校

出　　处：《山东医学高等专科学校学报》2017年第4期241-244,共4页Journal of Shandong Medical College

基　　金：临沂市科技发展计划项目(No.201616011)

摘　　要：目的探讨神经电生理检查及基因检测在遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsy,HNPP)诊断中的临床价值,提高广大临床工作者对本病的认识。方法报道1例经基因检测确诊的遗传性压力易感性周围神经病患者,并对本病进行简要综述;对患者进行详细的病史询问及神经查体,并进行详尽的电生理检查和基因检测。结果患者临床上呈现双侧腕管综合征,电生理检查显示脱髓鞘性感觉运动性多发神经病变,基因检测示PMP22基因杂合缺失突变。结论详细的神经电生理检查在HNPP诊断中起重要作用,确诊需要基因检测。Objective To explore the clinical value of nerve electrophysiological examinatxon and genetic detection in diagnosing hereditary neuropathy with liability to pressure palsy （HNPP） to promote clinical staff＇s awareness of the disease. Methods One case of HNPP confirmed by genetic detection was reported and the clinical data were briefly summarized. The patient was asked about the detailed medical history and the results of neurological examination and the nerve electrophysiological examination and genetic detection were conducted. Results The patient presented bilateral carpal tunnel syndrome. The electrophysiological examination revealed demyelinating sensory and motor polyneuropathy, and the genetic detection showed PMP22 gene heterozygous deletion mutation. Conclusion Detailed neurophysiological examination plays an important role in the diagnosis of HNPP, and genetic detection is required to confirm the diagnosis.

关 键 词：腕管综合征 遗传性感觉和运动神经病 电生理 基因检测 

分 类 号：R745[医药卫生—神经病学与精神病学]