AP1S2基因突变所致X-连锁精神智力发育迟滞1例  

A case report X-linked intellectual disability caused by AP1S2 gene mutation

作　　者：左然然 马立瑶 李静洁[1] 庞领玉 杨帆[1] 李富威 孙素真[1] ZUO Ranran;MA Liyao;LI Jingjie;PANG Lingyu;YANG Fan;LI Fuwei;SUN Suzhen(Department of Neurology,Children's Hospital of Hebei Province,Hebei Medical University,the Key Laboratory of Pediatric Epilepsy and Neuropathy of Hebei Province,Shijiazhuang,Hebei,050031,China;Chigene(Beijing)Translational Medical Research Center Co.,Ltd.,Beijing 1011ll,China)

机构地区：[1]河北医科大学附属河北省儿童医院神经内科/河北省小儿癫痫与神经疾病重点实验室,河北石家庄050031 [2]北京智因东方转化医学研究中心有限公司,北京101111

出　　处：《中国优生与遗传杂志》2023年第5期1023-1027,共5页Chinese Journal of Birth Health & Heredity

基　　金：河北省重点研发计划(22377756D)。

摘　　要：目的 分析AP1S2基因变异引起X-连锁精神发育迟滞患儿的临床表型及遗传学特点,以提高在临床中对该病的认识,早期诊断,改善预后。方法 回顾性分析1例AP1S2基因突变所致X-连锁精神智力发育迟滞综合征5型患儿的临床资料。结果 患儿男,9岁,临床表现为呕吐、精神差,全面发育障碍;头颅MRI提示脑室系统扩张积水,间质性脑水肿,四脑室出口狭窄-闭塞,中脑导水管上缘较窄,脑脊液流动缓慢,四脑室出口处未见脑脊液流动信号。基因检测结果示患儿AP1S2半合子突变。结合患儿的临床表现和遗传分析结果,诊断为X-连锁精神智力发育迟滞综合征5型。结论 对合并脑积水和全面发育障碍的男童,应高度警惕X-连锁精神智力发育迟滞,完善基因检测,指导优生优育。Objective To analyze and summarize the clinical phenotypes and genetic characteristics of children with X-linked intellectual disability caused by APis2 gene mutation,in order to enhance the understanding of the disease,early diagnosis and prognosis.Methods A retrospective analysis summarizes the clinical data of a child with X-linked intellectual disability syndrome type 5 due to APis2 gene mutation.Results The patient,9-year-old male,presented with vomiting,poor mental health and comprehensive development disorder.The cranial MRI showed dilated hydrocephalus of the ventricular system,interstitial brain edema,stenosis occlusion of the outlet of the fourth ventricle,narrow upper edge of the midbrain aqueduct,slow CSF flow,and no CSF flow signal at the outlet of the fourth ventricle.Gene mutation analysis showed that the patient had APiS2 gene mutation.Combined with the clinical manifestations and genetic analysis,the child was diagnosed as X-linked mental disability syndrome type 5.Conclusion For boys with hydrocephalus and all-round developmental disorder,we should be highly vigilant against X-linked mental disability,complete genetic testing,and guide eugenics.

关 键 词：AP1S2基因 X-连锁精神智力发育迟滞 儿童 脑积水 

分 类 号：R742[医药卫生—神经病学与精神病学]