遗传性压力易感性周围神经病的临床、神经电生理和基因特点分析

摘要

Objective To delineate the clinical,electrophysiological and genetics features of a family where 4 members were affected with hereditary neuropathy with liability to pressure palsies (HNPP).Methods Clinical features of the 4 patients were summarized.Electrophysiological examination and genetic analysis were carried out.Results All of the patients showed recurrent motor and sensory disturbances after minor traction or constriction.Electrophysiology study revealed that the prolonged latency and reduced conduction velocity of peripheral nerve were general and with multiple sites of affection.The nerve locations liable to entrapment showed conduction block.A deletion mutation of peripheral myelin protein 22 (PMP22) gene was identified by genetic analysis.Conclusion HNPP usually affects areas where nerves are liable to entrapment,and presents with motor and sensory disturbances of the innervated areas.Electrophysiological study reveals general nervous demyelination.Genetic analysis can clarify the diagnosis of HNPP.%目的 探讨遗传性压力易感性周围神经病(hereditary neuropathy with liability to pressure palsies,HNPP)的临床、神经电生理及基因特点,为该病的诊断提供依据.方法 对1个家系的4例患者进行临床特点总结,行电生理检查和基因检测.结果 4例患者均表现为反复发作的周围神经受到轻微牵拉或压迫后出现运动感觉障碍,电生理检查示广泛性多发性的周围神经潜伏期延长,传导速度减慢,易卡压部位出现传导阻滞.基因检测示PMP22基因缺失突变.结论 HNPP多以神经易卡压部位发病,表现为受累神经支配区的运动感觉异常,神经电生理表现为广泛神经脱髓鞘损伤,基因检测能确诊.