儿童遗传性压迫易感性周围神经病的临床、肌电图与基因特征(附1例报告)

目的探讨儿童遗传性压迫易感性周围神经病(HNPP)的临床、EMG与基因特点。方法报道基因诊断明确的1例HNNP,并结合文献分析HNPP的临床、EMG与基因特点。结果患儿,女,11岁8个月,于入院10 d前运动后出现左足麻木,不能背屈,查EMG提示多发性周围神经源性损害。患儿父亲及伯父有类似病史。患儿基因检查示chr17:14095421~15458636杂合缺失,大小1363.2kb,诊断HNPP。结论轻微牵拉或压迫后出现肢体无力患儿,及早进行EMG检查,对于周围神经损害广泛而肢体麻痹局限,且有类似家族史的患儿,应注意HNPP,并进行基因检查。

Clinical,electromyography and genetic features of hereditary neuropathy with liability to pressure palsies phenotype in children (report of 1 case)

Objective To explore the clinical , EMG and genetic characteristics of children with hereditary neuropathy with liability to pressure palsies phenotype (HNPP).Methods One case of HNPP diagnosed by gene were reported, and combined with the literature , the clinical, electromyography and genetic characteristics were summarized.Results Female patient, 11 years and 8 months, left foot could not be dorsal flexion and numbness appeared after the movement in 10 d before admission ,EMG showed multiple peripheral nerve injury .Patient's father and uncle were very similar to the history .Genetic examination showed 1363.2 kb heterozygous deletion on the chr17:14095421 -15458636, and the diagnosis was HNPP .Conclusions When limb weakness happened in children after slight stretch or compression , perform EMG examination as early as possible .Children with extensive peripheral nerve damage , limited limb paralysis , and a similar family history , should pay attention to HNPP , and gene examination should be given .