摘要
目的对1例以后骨间神经损害为首发症状的遗传性压力易感性周围神经病(HNPP)患者进行神经电生理检查和基因检测分析,旨在提高临床医师对此病的认识。方法收集患者及家属临床资料进行分析,并复习相关文献对疾病进行简要总结。结果患者为15岁男性,因右前臂无力、抬指不能1月余就诊。电生理检查结果示多发性周围神经损害。基因检测示PMP22基因外显子区域存在大片段杂合缺失变异。结论HNPP具有临床异质性,轻微受压后即出现神经麻痹,神经电生理检查存在多发周围神经损害时,应考虑本病可能。早期诊断和对症治疗可改善患者的生存质量和预后。
Objective To describe the neuroelectrophysiological findings and genetic alteration of a patient with hereditary neuropathy with liability to pressure palsies(HNPP)who first presented with posterior interosseous nerve damage,and to improve clinicians'understanding of this disease.Methods We analyzed the clinical data of the patient and his families,and conducted a literature review on this disease.Results The 15-year-old male patient presented to the clinic complaining of weakness in the right forearm and inability to lift his fingers for more than one month.Electrophysiological examination demonstrated multiple peripheral nerve damage.Gene testing revealed large-fragment loss of heterozygosity in the exon region of the PMP22 gene.Conclusion HNPP is clinically heterogeneous,which should be considered when mild pressure can trigger nerve paralysis and electrophysiology indicates multiple peripheral nerve damage.Early diagnosis and symptomatic treatment can improve the quality of life and prognosis of the patients.
作者
宫黎黎
任红
张帅
王竹梅
GONG Lili;REN Hong;ZHANG Shuai(The Affiliated Hospital of Shandong University of Traditional Chinese Medicine,Jinan 250011,China)
出处
《中风与神经疾病杂志》
CAS
2023年第7期655-658,共4页
Journal of Apoplexy and Nervous Diseases
关键词
遗传性压力易感性周围神经病
神经电生理
PMP22基因
轴索变性
突变
Hereditary neuropathy with liability to pressure palsies
Nerve electrophysiology
The PMP22 gene
Degeneration of axons
Mutation
