Case report of early-onset epileptic encephalopathy caused by compound heterozygous mutation of the WWOX gene
10.3760/cma.j.cn101070-20201106-01729
- VernacularTitle:WWOX基因复合杂合变异致早发性癫痫性脑病1例
- Author:
Hongwei ZHANG
1
;
Yong LIU
;
Zaifen GAO
;
Meng WANG
;
Wandong HU
;
Guiling LIU
;
Huan ZHANG
;
Ruifeng JIN
Author Information
1. 济南市儿童医院神经内分泌科，济南 250022
- Keywords:
Early-onset epileptic encephalopathy;
Infant;
WWOX gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(6):454-456
- CountryChina
- Language:Chinese
-
Abstract:
Clinical data of a case with early-onset epileptic encephalopathy admitted in the Department of Neuroendocrinology, Jinan Children′s Hospital in April 2020 were retrospectively analyzed.A 1-month-old male patient was hospitalized for convulsion for 4 days.The child had repeated seizures in the form of tonic and tonic-spasm seizures, accompanied by feeding difficulties, slow weight gain, and overall developmental delay.Electroencephalogram showed multifocal discharge, atypical hypsarrhythmia, and brain magnetic resonance imaging showed delayed myelination.The whole exome sequencing showed compound heterozygous mutation of the WWOX gene.Topiramate, Levetiracetam and Valporate were ineffective to this case.Genetic testing should be performed timely in patients with early-onset epileptic encephalopathy and overall developmental delay to make a clear etiology and prognosis, thus guiding prenatal diagnostics and genetic counseling.
