【摘要】 目的:探讨遗传性压力易感性周围神经病(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3例患者进行临床特点总结、行电生理检查和基因检测。结果:3例患者均表现为无痛性下肢远端无力。电生理检查示四肢广泛神经传导速度减慢。基因检测示3例患者均存在周围髓鞘蛋白22(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。更多还原

【Abstract】 Objective:To study the clinical and electrophysiological features of patients with hereditary neuropathy with liability to pressure palsy(HNPP) diagnosed by gene analysis.Methods:Three patients were assessed with the clinical characteristics,electrophysiology findings and gene analysis.Results:Three patients had clinical manifestation of painless and weak distal lower limbs.Electrophysiology study revealed that the nerve conduction velocities were slow.Gene studies exhibited a deletion of the peripheral myelination protein 22(PMP22) gene in three patients.Conclusion:HNPP usually affects the areas where nerves are subject to entrapment,and presents with motor and sensory disturbances of the innervated areas.Electrophysiology shows general nervous demyelination.Genetic analysis can clarify the diagnosis of HNPP.更多还原