中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (7): 551-554.DOI: 10.19538/j.ek2023070615

• 病例报告 • 上一篇    下一篇

吡仑帕奈治疗Dravet综合征1例并文献复习

  

  1. 1.深圳市儿童医院神经内科，广东  深圳  510028；2.中国医科大学研究生院，辽宁  沈阳  110122
  • 出版日期:2023-07-06 发布日期:2023-08-29
  • 通讯作者: 廖建湘，电子信箱：epilepsycenter@vip.163.com
  • 基金资助:
    深圳市医学重点学科建设项目（SZXK033）；广东省高水平临床重点专科项目（SZGSP012）；广东省高水平医院建设专项经费资助；深圳市科技创新委员会（JCYJ20200109150818777）；广东省基础与应用基础研究基金委员会（2020A1515110612）

Perampanel in the treatment of Dravet syndrome: A case report and literature review

  1. Department of Neurology，Shenzhen Children's Hospital，  Shenzhen 510028，China
  • Online:2023-07-06 Published:2023-08-29

摘要： 总结2020年10月20日深圳市儿童医院收治的1例吡仑帕奈治疗Dravet综合征患儿临床资料，其表现为多种发作形式，基因检测结果提示SCN1A基因变异。反复采用多种抗癫痫药物治疗效果不佳。加用吡仑帕奈治疗后患儿癫痫发作逐渐控制，目前无发作。查阅相关文献，国内尚未见吡仑帕奈治疗Dravet综合征的文献报道，英文报道病例共22例。其中有效率约为60.8%（14/23），完全控制约为21.7%（5/23）。副反应发生率不高，主要表现为易激惹、嗜睡等表现。吡仑帕奈治疗难治性SCN1A突变Dravet综合征可能有效，可作为难治性SCN1A突变Dravet综合征的添加治疗

关键词: 吡仑帕奈, Dravet综合征, SCN1A基因变异

Abstract: To summarize the clinical data of a child with Dravet syndrome treated with pirentanil in Shenzhen Children's Hospital on October 20， 2020. The manifestations of the child were  in multiple seizure forms， and the results of genetic testing suggested a mutation in the SCN1A gene. Multiple anti-seizure drugs are not effective. After the addition of pirenpamil treatment， the seizures in the child were gradually controlled， and there were currently no seizures. According to the relevant literature， there have been no literature reports on the treatment for Dravet syndrome with pirenpanide in China. A total of 22 cases have been reported in English. The effective rate is about 60.8%， and the complete control rate is about 21.7%. The incidence of side effects is not high， mainly manifested as irritability， lethargy， and other manifestations. Pirentanil may be effective in the treatment of refractory SCN1A mutant Dravet syndrome and can be used as an add-on treatment for refractory SCN1A mutant Dravet syndrome.

Key words: perampanel, Dravet syndrome, SCN1A gene mutation