类细胞周期蛋白依赖性蛋白激酶5基因新生变异致癫痫性脑病1例

Case report of epileptic encephalopathy caused by a new mutation of cyclin-dependent kinase-like 5 gene

目的探讨类细胞周期蛋白依赖性蛋白激酶5(CDKL5)基因新生变异致早发性婴儿癫痫性脑病2型(EIEE2)的临床特点、诊治现状和存在的问题。方法回顾性分析2019年8月12日就诊于南京医科大学附属儿童医院新生儿内科的1例CDKL5基因新生变异致EIEE2患儿的病史资料、辅助检查及诊治特点,并结合相关文献,总结该病的临床诊治思路和未来展望。结果患儿,女,年龄13 d 23 h,主要临床表现为反复抽搐,使用抗癫痫药物效果欠佳。二代基因测序检测发现患儿CDKL5基因存在c.119C>T/p.A40V杂合变异,此变异为新发变异。结论CDKL5基因新生变异致EIEE2是值得被关注的罕见病,早期发现并进行基因诊断是提高诊治率的关键。

Objective To investigate the clinical characteristics,diagnosis and treatment status,and existing problems of early infantile epileptic encephalopathy type 2(EIEE2)caused by de novoa mutation of cyclin-dependent kinase-like 5 gene(CDKL5).Methods The medical history,auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12,2019 were retrospectively analyzed.Combined with relevant literatures,the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c.119C>T/p.A40V heterozygous mutation of CDKL5 gene,which was de novo mutation.Conclusions EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.