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目的研究经基因诊断确诊的遗传性压迫易感性神经病(hereditary neuropathy with liability to pressure palsies,HNPP)患者的临床特点和电生理特征。方法对来自4个家系的5例HNPP患者进行基因诊断,并总结患者的临床特点,同时分析其电生理特征,包括肌电图(EMG)、运动神经传导速度(MCV)和感觉神经传导速度(SCV)。结果5例患者均存在周围髓鞘蛋白22 (peripheral myelination protein 22,PMP22)基因缺失。HNPP临床主要表现为反复发作的肢体麻木、无力,神经传导存在广泛异常。结论电生理检查对HNPP的诊断很重要,基因检测发现PMP22基因缺失是诊断HNPP的金标准。
Objective To investigate the clinical features and electrophysiological characteristics of patients with hereditary neuropathy with liability to pressure pals (HNPP) diagnosed by genetic diagnosis. Methods Five HNPP patients from four families were genetically diagnosed and their clinical characteristics were summarized. Their electrophysiological characteristics including EMG, MCV and sensory nerve conduction velocity ( SCV). Results All the 5 patients had peripheral myelination protein 22 (PMP22) gene deletion. HNPP clinically manifested as recurrent limb numbness, weakness, nerve conduction there is a wide range of abnormalities. Conclusion The electrophysiological examination is very important for the diagnosis of HNPP. The gene test found that the deletion of PMP22 gene is the gold standard for diagnosis of HNPP.