临床儿科杂志 ›› 2020, Vol. 38 ›› Issue (9): 691-.doi: 10.3969/j.issn.1000-3606.2020.09.012

• 综合报道 • 上一篇    

癫痫与运动障碍共存GNAO1 脑病1 例报告并文献复习

蒋姣, 李杨, 王丹, 张刚, 郭虎   

  1. 南京医科大学附属儿童医院神经内科(江苏南京 210008)
  • 发布日期:2020-09-17
  • 通讯作者: 郭虎 电子信箱:drhguo@163.com

GNAO1 encephalopathy with epilepsy and dyskinesia: a case report and literature review

 JIANG Jiao, LI Yang, WANG Dan, ZHANG Gang, GUO Hu   

  1. Department of Neurology, Children's Hospital of Nanjing Medical University, Nanjing 210008, Jiangsu, China
  • Published:2020-09-17

摘要: 目的 探讨GNAO1基因G203R变异的临床特点及基因型-表型相关性。方法 回顾性分析1例GNAO1基 因G203R变异患儿的临床资料,并以“GNAO1G203R”为检索词分别在中国知网、万方数据库和PubMed等数据库检索文 献并复习相关资料。结果 男性7月龄患儿,临床表现为反复抽搐,扭动、舞蹈、张口、咂嘴吐舌,生长发育落后,肌张力低 下。全外显子基因测序发现患儿GNAO1基因G203R变异。抗癫痫药物联合治疗后,患儿癫痫控制,但仍有反复扭动、舞蹈、 口面部运动障碍。文献检索到6例GNAO1基因G203R变异病例,临床表现相似。结论 GNAO1基因G203R变异的主要 临床特点是癫痫性脑病、运动障碍、生长发育落后。

关键词: GNAO1基因; G203R变异; 癫痫; 运动障碍

Abstract: Objective To investigate the clinical characteristics and genotypic-phenotypic correlation of G203R variation in GNAO1 gene. Methods The clinical data of G203R variation in GNAO1 gene in a child was retrospectively analyzed. In addition, "GNAO1G203R" was used as the search term to retrieve and review the literature in CNKI, Wanfang Database and PubMed, etc. Results A 7-month-old male child presented with recurrent seizures, twist, chorea, mouth opening, rictus and tongue clicking, growth retardation and hypotonia. The G203R mutation of GNAO1 gene was detected by whole exon sequencing. After treatment with the combination of antiepileptic drugs, epilepsy had been controlled in the child, but he still had the repeated twisting, chorea and oral and facial movement. The literature retrieved 6 cases of G203R mutation in GNAO1 gene and they had similar clinical manifestations. Conclusion The main clinical features of G203R mutation in GNAO1 gene are epileptic encephalopathy, dyskinesia and growth retardation.

Key words: GNAO1 gene; G203R mutation; epilepsy; movement disorder