1例ATP1A2基因突变致儿童交替性偏瘫病例报道
A case report of alternating hemiplegia of childhood caused by ATP1A2 gene mutation
张玲 1张飘飘 2赵红洋2
作者信息
- 1. 潍坊医学院附属医院/临床医学院/潍坊医学院,山东潍坊 261000
- 2. 济南市中心医院儿内科,山东济南 250000
- 折叠
摘要
目的 探讨ATP1A2基因突变导致的儿童交替性偏瘫临床特征.方法 回顾性分析1例AHC患儿的临床资料并进行讨论.结果 患儿男性,2岁,7月龄起病,1岁时表现交替性偏瘫发作,伴语言障碍,睡眠后缓解,基因检测显示ATP1A2基因存在杂合突变(c.2143G＞Cp.Gly715Arg).给予氟桂利嗪口服治疗.2年复发3次.结论 ATP1A2基因突变可能以发热性惊厥为首发症状导致儿童交替性偏瘫,制定更有效的治疗和预防策略,早期防止急性脑病和发育迟滞的发生是诊断和治疗AHC的最终目标.
Abstract
Objective To investigate the clinical characteristics of alternating hemiplegia of childhood(AHC)caused by ATP1A2 gene mutations.Methods A retrospective analysis was conducted on the clinical data of one AHC patient for dis-cussion.Results The patient was a 2-year-old male who started exhibiting episodes of alternating hemiplegia at 7 months of age.The episodes were accompanied by language impairment and improved after sleep.Genetic testing revealed a heterozy-gous mutation(c.2143G＞Cp.Gly715Arg)in the ATP1A2 gene.The patient was treated with oral flunarizine and experienced three recurrences within 2 years.Conclusion ATP1A2 gene mutations may result in febrile seizures as the initial symptom leading to alternating hemiplegia of childhood in children.Developing more effective treatment and prevention strategies,along with early prevention of acute encephalopathy and developmental delay,is the ultimate goal in diagnosing and treating AHC.
关键词
儿童交替性偏瘫/ATP1A2/ATP1A3/Na+/K+-ATP酶/ATPKey words
alternating hemiplegia of childhood/ATP1A2/ATP1A3/Na+/K+-ATPase/ATP引用本文复制引用
出版年
2024
NETL
NSTL
万方数据