生酮饮食治疗CDKL5基因突变所致婴儿痉挛症1例报告并文献复习  

Ketogenic Diet for Infantile Spasms Caused by CDKL5 Gene Mutation:a Case Report and Literature Review

作　　者：王春雨 王琳琳[1] 南在元 刘爽 张哲 WANG Chunyu;WANG Linlin;NAN Zaiyuan;LIU Shuang;ZHANG Zhe(Heilongjiang Hospital,Beijing Children's Hospital Affiliated to Capital Medical University(The Sixth Affiliated Hospital of Harbin Medical University),Harbin 150010,China)

机构地区：[1]首都医科大学附属北京儿童医院黑龙江医院(哈尔滨医科大学附属第六医院),哈尔滨150010

出　　处：《中国医药指南》2024年第12期181-185,共5页Guide of China Medicine

基　　金：黑龙江省卫生健康委科研项目(2019-232)。

摘　　要：目的通过报道1例接受生酮饮食治疗的CDKL5基因突变所致婴儿痉挛症的病历资料,以提高对CDKL5基因突变所致婴儿痉挛症及生酮饮食治疗的认识。方法男患儿,出生后1月24天起出现癫痫局灶性发作,2月16天来我院就诊并逐渐出现痉挛发作。对此例患儿的临床资料及治疗进行总结并进行相关文献复习。结果①体格检查:患儿入院时发育水平与同龄儿比较无明显差异,随着癫痫发作的增加,发育逐渐落后并倒退。脑电图监测到成串痉挛发作及高度失律。基因结果显示CDKL5基因嵌合新生变异。②治疗过程中先后应用ACTH及多种抗癫痫发作药物,癫痫发作曾一度有所控制,再次发作加重后应用生酮饮食,癫痫控制较好,且智力、运动能力有所改善。结论此例CDKL5基因突变所致痉挛症患儿在口服抗癫痫发作药物控制发作的前提下,采用生酮饮食治疗可减少发作,改善预后。Objective To improve the understanding of infantile spasms caused by CDKL5 gene mutation and ketogenic diet therapy,we reported a case of infantile spasms caused by CDKL5 gene mutation and ketogenic diet therapy.Methods The male patient had focal epileptic seizures since 1 month 24 days after birth,and came to our hospital for treatment on 2 months 16 days and gradually developed spasms.The clinical data and treatment of this case were summarized and the related literatures were reviewed.Results(1)Physical examination:There was no significant difference between the children of the same age at admission,with the increase of epileptic seizures,the development gradually lagged behind and regressed.Electroencephalogram monitoring showed a cluster of spasms and high degree of arrhythmia.The gene result show that that CDKL5 gene is chimeric and generates a new mutation.(2)In the course of treatment,ACTH and a variety of anti-epileptic drugs were used successively,and the epilepsy was controlled for a time,and after the recurrence of seizures aggravated,ketogenic diet was used to control the epilepsy well,and the intelligence and movement were improved.Conclusion In this case of infantile spasms caused by CDKL5 gene mutation,ketogenic diet treatment can reduce seizures and improve the prognosis on the premise of oral antiepileptic drugs to control seizures.

关 键 词：生酮饮食 CDKL5基因 婴儿痉挛症 

分 类 号：R742.1[医药卫生—神经病学与精神病学]