EEF1A2基因变异致发育性癫痫性脑病33型1例  

Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation:a case report

作　　者：贺海兰 林雪芹 王晓乐[1] 彭盼 肖慧[1] 尹飞[1] 彭镜[1] HE Hai-Lan;LIN Xue-Qin;WANG Xiao-Le;PENG Pan;XIAO Hui;YIN Fei;PENG Jing(Department of Neurology,Children's Medical Center,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院儿童医学中心神经专科,湖南长沙410008

出　　处：《中国当代儿科杂志》2024年第8期861-864,共4页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金(82201316)。

摘　　要：患儿,男,7月龄,表现为重度全面发育落后、难治性癫痫、肌张力降低、眼球震颤、眼距宽、鼻梁塌陷、上唇外翻、高腭弓和隐睾,基因检测发现EEF1A2基因存在c.364G>A(p.E122K)新生杂合错义变异,最终该患儿确诊为EEF1A2基因变异致常染色体显性遗传发育性癫痫性脑病33型。该病例报道提示,对不明原因婴儿期起病的重度-极重度全面发育落后/智力障碍、难治性癫痫患儿,尤其是存在肌张力低下、语言缺失、颅面部畸形者,应考虑EEF1A2基因变异可能,应尽早完善遗传学检测协助诊断。A boy,aged 7 months,presented with severe global developmental delay(GDD),refractory epilepsy,hypotonia,nystagmus,ocular hypertelorism,a broad nasal bridge,everted upper lip,a high palatal arch,and cryptorchidism.Genetic testing revealed a de novo heterozygous missense mutation of c.364G>A(p.E122K)in the EEF1A2 gene,and finally the boy was diagnosed with autosomal dominant developmental and epileptic encephalopathy 33 caused by the EEF1A2 gene mutation.This case report suggests that for children with unexplained infancy-onset severe to profound GDD/intellectual disability and refractory epilepsy,genetic testing for EEF1A2 gene mutations should be considered.This is particularly important for those exhibiting hypotonia,nonverbal communication,and craniofacial deformities,to facilitate a confirmed diagnosis.

关 键 词：全面发育落后 智力障碍 癫痫 EEF1A2基因 婴儿 

分 类 号：R742.1[医药卫生—神经病学与精神病学]