遗传性压力易感性周围神经病的神经电生理诊断

Neurophysiological diagnosis of hereditary neuropathy with liability to pressure palsies

目的探讨遗传性压力易感性周围神经病(HNPP)的神经电生理特点,为该病的诊断提供依据。方法对3个家系的8例有症状和无症状疑似HNPP患者进行常规神经电生理检测,包括双侧正中神经、尺神经、桡神经、胫神经和腓总神经的感觉和运动神经传导,并将其结果与同期我院肌电图室30例健康人同年龄组的正常值比较。结果 (1)运动神经传导末端潜伏时延长异常率最高,为92.1%,主要出现在正中神经和腓总神经,有症状者和无症状者均延长。(2)运动神经传导速度减慢的异常率为63.2%,以正中神经和腓总神经传导减慢最多见。(3)感觉神经传导速度减慢的异常率为89.6%,以正中神经感觉减慢最明显。(4)尺神经在肘部出现传导阻滞明显多于腓总神经在腓骨小头处。结论对临床上高度怀疑HNPP的患者,神经电生理检查是一种无创、快速、简便、准确的检查方法,并且可对患者家属进行筛查,对预防该病有重要意义。

Objective To explore the neurophysiological properties of hereditary neuropathy with liability to pressure palsies（HNPP）,so as to provide evidence for the diagnosis of HNPP.Methods Three families（8 individuals） with clinically affected and asymptomatic HNPP patients underwent routine electrodiagnostic tests,including median,ulnar,radial,tibial and proneal motor and sensory nerve conduction,and the results were compared with those of 30 healthy subjects.Results（1）Prolongation of the distal nerve conduction latencies was the most seen abnormality（92.1%）,mainly found in the median and common peroneal nerves,including those with and without symptoms.（2）The rate of motor nerve conduction slowing was 63.2%,mostly seen in the median and common peroneal nerves.（3）The rate of sensory nerve conduction slowing was 89.6%,mostly affecting the sural and median nerves.（4）The conduction block of the ulnar nerve at the elbow was more commonly seen than that of the proneal nerve at the fibular head.Conclusion Neurophysiological examination is a noninvasive,fast,simple and accurate diagnosis way for clinically suspected HNPP patients,and it can be used for screening the family members of HNPP patients and for prevention of HNPP.