Clinical, electromyography and genetic features of hereditary neuropathy with liability to pressure palsies phenotype in children (report of 1 case)
- VernacularTitle: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）
- Author:
Hu GUO
;
Bo JIN
- Keywords:
hereditary neuropathy with liability to pressure palsies phenotype;
children;
clinical;
electrophysiological;
gene
- From:
Journal of Clinical Neurology
2016;29(6):463-465
- CountryChina
- Language:Chinese
-
Abstract:
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 .
