WWOX基因复合杂合变异致早发性癫痫性脑病1例

Case report of early-onset epileptic encephalopathy caused by compound heterozygous mutation of the WWOX gene

对2020年4月在济南市儿童医院神经内分泌科住院治疗的1例早发性癫痫性脑病患儿的临床资料进行回顾性分析。患儿,男,1月龄时因"抽搐4 d"入院,发作形式为强直发作、强直痉挛发作,伴有喂养困难、体质量增长慢、全面发育迟缓,脑电图示多灶性放电、不典型高度失律,头颅磁共振成像显示髓鞘化落后,家系全外显子组测序示WWOX基因复合杂合变异,口服托吡酯、左乙拉西坦、丙戊酸钠发作控制不佳,发育明显落后。对于表现为早发性癫痫性脑病、全面发育迟缓的患儿,应尽早行基因检测,明确病因和预后,指导产前诊断和遗传咨询。

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.