Abstract:

Objective: To summarize and analyze the clinical and electrophysiological characteristics of hereditary neuropathy with liability to pressure palsies (HNPP). Methods and Results: Three patients with HNPP confirmed by gene test who were admitted to Beijing Hospital from January 2014 to December 2020 were retrospectively analyzed. All 3 patients were male. Age of onset/diagnosis (duration ending up to December 2020) were 13/25, 57/57 and 20/71 years old, respectively. All of them had heterozygous deletion mutation of the PMP22 gene. All 3 patients initially presented with common peroneal nerve palsy and were able to achieve complete recovery at the early stage. Electrophysiological changes were characterized by conduction block at entrapment sites, reduction in both sensory and motor conduction velocity, and decreased amplitude of sensory nerve action potentials, prolonged distal latency, which were affected more widely than clinically involved. At the late stage, the symptoms might not fully recover after the attack. Conclusions: At the early stage of HNPP, the electrophysiological abnormalities exceed the range that was clinically involved. This feature might be helpful for early diagnosis. Detection of peripheral nerve conduction blocks at entrapment sites can assist in differential diagnosis with Guillan - Barré syndrome (GBS), multifocal motor neuropathy (MMN), multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) and Charcot-Marie-Tooth disease type 1A (CMT1A).

Key words: Neuromuscular diseases, Nerve block, Neurophysiological monitoring

摘要：

目的: 总结分析遗传性压迫易感性神经病（HNPP）临床特征和神经电生理演变过程，以为临床早期诊断提供参考。方法与结果: 研究对象为2014年1月至2020年12月经北京医院基因检测确诊的3例男性HNPP患者，发病年龄（确诊年龄）分别为13（25）、57（57）和20（71）岁，至2020年12月随访时病程18、6和56年。致病基因均为PMP22，呈全基因杂合缺失突变。首发症状为腓总神经麻痹，早期发作后可自行恢复至正常状态；神经电生理改变以易嵌压部位的周围神经传导阻滞为核心特征，同时伴有多发性感觉和运动神经传导速度减慢、感觉神经电位波幅降低、远端潜伏期延长，受累神经数量超过临床症状范围；至疾病晚期，发作后症状可持续存在。结论: HNPP患者病程早期呈现的神经电生理异常范围超过临床表现的特征有助于早期诊断，病程中出现易嵌压部位的周围神经传导阻滞有助于与吉兰-巴雷综合征、多灶性运动神经病、多灶性获得性脱髓鞘性感觉运动神经病和腓骨肌萎缩症1A型等疾病相鉴别。

关键词: 神经肌肉疾病, 神经传导阻滞, 神经电生理监测