PACS2基因变异致婴儿癫癎性脑病(附1例报告及文献复习)

Infantile Epileptic Encephalopathy Caused by PACS2 Gene Mutation(A Case Report and Literature Review)

目的探讨PACS2基因变异致婴儿癫癎性脑病的临床特征及基因变异特点。方法回顾性分析1例PACS2基因变异相关婴儿癫癎性脑病患儿的临床资料,并复习相关文献进行讨论。结果患儿为女性,11月龄,因“反复抽搐发作1个月”入院。患儿起病前发育基本正常。入院后相关检查:心肌酶轻度增高,视频脑电图显示醒期和睡期双侧后头部阵发2 Hz慢波,清醒期阵发双侧后颞区快波节律,有时可演变为棘波节律。血、尿遗传代谢病筛查未见异常。家系全外显子组基因测序发现患儿PACS2基因存在c.598G>A(p.Glu200Lys)新发杂合变异(NM_001100913.3),Sanger测序验证其父母均未检测到该基因变异。予以左乙拉西坦与丙戊酸钠联合治疗后癫癎发作控制,运动发育基本正常,语言发育显著落后。结论PACS2基因c.598G>A变异是婴儿癫癎性脑病的致病性变异,该变异位点既往未见报道,扩充了PACS2基因变异谱。

Aim To explore the clinical phenotype and genetic characteristics of infantile epileptic encephalopathy caused by PACS2 mutation.Methods The clinical data of PACS2 gene mutation associated infantile epileptic encephalopathy in a child were retrospectively analyzed,and the related literature was reviewed.Results A eleven-month-old girl who was taken to hospital for repeated seizures in a month.The development of the child was normal before the onset of the disease.In the examination after admission,myocardial enzyme increased slightly,video-electroencephalogram(EEG)indicated 2 Hz slow wave bursts on the back of the head on both sides,fast wave rhythms in the posterior temporal area on both sides in the awake stage,and sometimes it can evolve into a spike rhythm.Blood and urine genetic metabolic disease screening showed no abnormalities.Family whole exome sequencing(WES)revealed a de novo heterozygous mutation of c.598G>A(p.Glu200Lys)in the PACS2 gene(NM_001100913.3),and both her parents were wild-type at this locus by Sanger sequencing.Seizures were controlled by the treatment of levetiracetam and valproic acid.The motor development is basically normal,and the language development is significantly delayed.Conclusion Mutation of c.598G>A(p.Glu200Lys)in the PACS2 gene is the pathogenic variation of infantile epileptic encephalopathy.This locus has not been reported,and the variation spectrum of PACS2 gene was expanded.