Clinical, electromyography and genetic features of hereditary neuropathy with liability to pressure palsies phenotype in children (report of 1 case) / 临床神经病学杂志
Journal of Clinical Neurology
;
(6): 463-465, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-506658
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 chr1714095421 -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 .
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2016
Tipo de documento:
Artigo
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