RHOBTB2基因突变致癫痫性脑病1例并文献复习

Epileptic encephalopathy caused by the RHOBTB2 gene mutation:a case report and literature review

回顾性分析2020年6月山东第一医科大学附属省立医院小儿神经科收治的1例RHOBTB2基因突变致癫痫性脑病患儿的病例资料,分析其临床表型及基因突变特点,并复习相关文献。患儿,男,3个月12 d,因"反复抽搐2 d"入院,临床表现为无热性癫痫持续状态,包括双眼向左侧凝视,四肢强直、抽动,持续约30 min缓解;体格检查发现患儿不能抬头,哭声小,基因全外显子测序提示患儿RHOBTB2基因第7号外显子存在新发错义突变c.1448G>A(Arg483His);抗癫痫发作药物左乙拉西坦联合托吡酯治疗后,患儿癫痫发作控制,但生长发育明显落后。RHOBTB2基因突变所致癫痫性脑病预后不佳,多数患儿伴运动障碍和小头畸形。

Clinical data(including clinical phenotype and gene mutation characteristics)of a case of epileptic encephalopathy carrying the RHOBTB2 gene mutation treated at the Department of Pediatric Neurology,Shandong Provincial Hospital Affiliated to Shandong First Medical University in June 2020 was analyzed retrospectively.Relevant literatures were reviewed as well.A male patient aged 3 months and 12 days presented with repeated convulsions for 2 days.The main symptoms included afebrile epileptic status,featuring eye deviation to the left,and limb tonic-clonic jerk lasting for about 30 minutes.Physical examinations showed that the child could not control his head and cried lowly.The whole exome sequencing data revealed a novel heterozygous variation in exon 7 of the RHOBTB2 gene:c.1448G>A(p.Arg483His).Seizures were controlled by the treatment of Levetiracetam combined with Topiramate,but remained growth retardation.The prognosis of epileptic encephalopathy caused by the RHOBTB2 gene mutation is poor,and most children have dyskinesia and microcephaly.