SZT2基因突变所致儿童难治性癫痫3例报告

Intractable epilepsy caused by SZT2 gene mutation in 3 children

目的报道3例SZT2基因突变所致难治性癫痫患儿的临床表现及预后。方法分析总结3例SZT2基因突变所致难治性癫痫患儿的临床资料及随访结果。结果男2例,女1例,分别于4月龄、10月龄及18月龄时出现难治性癫痫,伴有智力运动发育落后、特殊面容(高前额、睑裂下斜、眼睑下垂、弓形眉)、四肢肌张力低下、头围增大等,均有严重的癫痫性脑病表现,其中1例男性患儿(10月龄发病)因反复惊厥死亡。3例患儿基因检测结果均提示SZT2基因突变。结论对无明显诱因出现难治性癫痫伴有智力运动发育落后的患儿应尽早完善基因检测,以明确诊断。

Objective To explore the clinical manifestations and prognosis of intractable epilepsy caused by SZT2 gene mutation in 3 children. MethodClinical data and follow-up results of 3 children with intractable epilepsy caused by SZT2 gene mutation were analyzed and summarized. ResultsTwo boys and 1 girl presented intractable epilepsy at the age of 4 months, 10 months and 18 months respectively, accompanied by mental retardation, special facial features (high forehead, blepharoptosis, eyelid ptosis and bow shaped eyebrow), lower limb muscle tone and enlarged head circumference. All of them had severe epileptic encephalopathy, and one boy died of repeated convulsions (onset at age of 10 months). The genetic test results showed all of 3 children had SZT2 gene mutation. ConclusionFor children having intractable epilepsy without obvious inducement accompanied by mental retardation, genetic testing should be completed as soon as possible to make a clear diagnosis.