标题：CAPOS综合征一例

      作者：黄晓利，田杨，宋京京，余宾，周怡岚，杨思达    黄晓利，田杨，宋京京，余宾，周怡岚，杨思达广州市妇女儿童医疗中心柳州医院儿童神经专科，广西 柳州 545000

      卷次： 2024年35卷4期

      【摘要】 小脑共济失调、反射消失、高弓足、视神经萎缩和感觉神经性听力丧失(CAPOS)综合征是一种罕见的神经系统疾病，ATP1A3基因中的 c.2452G>A突变在该病的发病过程中起重要作用。该病临床容易误诊、漏诊，目前国内鲜见该病的相关报道。本文报道一例以提高对该病的认识。
      【关键词】 CAPOS综合征；临床表型；ATP1A3基因；基因突变
      【中图分类号】 R74 【文献标识码】 D 【文章编号】 1003—6350（2024）04—0573—04

A case of cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural hearing loss syndrome.HUANG Xiao-li, TIAN Yang, SONG Jing-jing, YU Bin, ZHOU Yi-lan, YANG Si-da.
Department of Pediatric Neurology,Liuzhou Hospital, Guangzhou Women's and Children's Medical Center, Liuzhou 545000, Guangxi, CHINA【Abstract】 Cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural hearing loss (CAPOS)syndrome is a rare neurological disorder in which the c.2452G>A mutation in the ATP1A3 gene plays an important role.It is easy to be misdiagnosed and missed diagnosed in clinical practice, and there are few related reports of this disease inChina. In this paper, the clinical data of a child with CAPOS syndrome were retrospectively analyzed and the literaturewas reviewed, to improve the awareness of the disease.
      【Key words】 CAPOS syndrome; Clinical phenotype; ATP1A3 gene; Gene mutation