Chinese Medical Sciences Journal ›› 2021, Vol. 36 ›› Issue (2): 150-157.doi: 10.24920/003850

• 病例报告 • 上一篇    下一篇

ATP1A3基因突变致儿童交替性偏瘫:2例病例报道

杨广娥(),赵忠礼,杨阳,林丽,宋丛磊,汪晓翠,杨斌   

  1. 安徽省儿童医院神经内科,合肥 230053
  • 收稿日期:2021-02-10 出版日期:2021-06-30 发布日期:2021-07-07
  • 通讯作者: 杨广娥 E-mail:guangeyang@163.com

Alternating Hemiplegia of Childhood Caused by ATP1A3 Mutations: A Report of Two Cases

Guange Yang(),Zhongli Zhao,Yang Yang,Li Lin,Conglei Song,Xiaocui Wang,Bin Yang   

  1. Medical Department of Neurology, Anhui Provincial Children’s Hospital, Hefei 230053, China
  • Received:2021-02-10 Published:2021-06-30 Online:2021-07-07
  • Contact: Guange Yang E-mail:guangeyang@163.com

摘要:

儿童交替性偏瘫是一种罕见的神经发育性异常,绝大多数为散发病例,极少数有家族史。我院收治2例男性患儿,6~7月龄时开始癫痫发作,表现为反复发作性全身无力或一侧肢体偏瘫。基因检测显示两患儿均携带ATP1A3基因杂合缺失突变(OMIM:614820):c.3025(exon 22)A>G(p.K1009E)和c.2443(exon 18)G>A(p.E815K)。氟桂利嗪可以显著改善交替性偏瘫患儿的发作性运动症状。

关键词: ATP1A3基因, 儿童交替性偏瘫, 癫痫

Abstract:

Alternating hemiplegia of childhood is a rare neurodevelopmental disorder. Most cases are reported as sporadic disorder due to de novo variants, and few with family members involved. Two boys were hospitalized due to epileptic seizures occurred initially at age of six to seven months. During the course of the disease, there were repeated episodes of paroxysmal weakness or paralysis affecting one side of the body. Genetic testing showed that both patients carried heterozygous missense mutations in theATP1A3 gene (OMIM: 614820): c.3025 (exon 22) A>G (p.K1009E) and c.2443 (exon 18) G>A (p.E815K). Flunarizine can significantly improve the paroxysmal motor symptoms of pediatric patients with alternating hemiplegia.

Key words: ATP1A3 gene, alternating hemiplegia of childhood, epilepsy

Copyright © 2018 Chinese Academy of Medical Sciences. All right reserved.
 
www.cmsj.cams.cn
京公安备110402430088 京ICP备06002729号-1  Powered by Magtech.

Supervised by National Health & Family Plan Commission of PRC

9 Dongdan Santiao, Dongcheng district, Beijing, 100730 China

Tel: 86-10-65105897  Fax:86-10-65133074 

E-mail: cmsj@cams.cn  www.cmsj.cams.cn

Copyright © 2018 Chinese Academy of Medical Sciences

All right reserved.

京公安备110402430088  京ICP备06002729号-1