中国循证儿科杂志2017，Vol.12Issue(6)：442-445,4.DOI:10.3969/j.issn.1673-5501.2017.06.008
CDKL5综合征7例病例报告
Report of 7 CDKL5 disorder cases
摘要
Abstract
Objective To explore the clinical and genetic features of CDKL5 disorder. Methods Using the next genomic sequencing technology to detect 7 cases of unexplained early infantile epileptic encephalopathy diagnosed by Xiangya Hospital of Central South University from the year 2011 to 2017, the clinical and molecular features of 7 cases with CDKL5 mutations were summarized ,and the related literatures were reviewed. ResuIts Five females and two males were diagnosed as CDKL5 disorder. Before the genetic tests,four patients were diagnosed as west syndrome and the other three patients were diagnosed as unclassified early onset epilepsy encephalopathy. The median age of seizure onset was 2 months,and the epilepsy started with partial seizure or tonic seizure,then turned into spasm or myoclonus. The EEG findings in five patients indicated hypsarrhythmia. Seven mutations of CDKL5 were found in seven patients,including three missenses mutations(c.464G>A / p.G134P、c.58G>C / p.G20R、c.464G>A /p.G155D),four frameshift mutations(c.1110del C / p.E370fs、c.160-163del / p.K54fs,c.278dupA / p.E93fs,heterozygous large deletion of the exon 3-8).All the mutations were not found in the parents.The median follow-up time was 36 months,the epileptic seizure of all patients could not be controlled.The number of antiepileptic drugs used ranged from 1 to 8.Four cases underwent the ACTH therapy but didn't get remarkable progress, five cases received ketogenic diet and only two of them achieved a little.All the patients had psychomotor develpoment retardation. ConcIusion CDKL5 disorder is a newly defined central nervous system syndrome caused by CDKL5 mutation,patients with different mutations have different phenotypes and prognosis.关键词
CDKL5综合征/早发型癫脑病/婴儿痉挛/CDKL5基因/新发突变Key words
CDKL5 disorder/Early infantile epileptic encephalopathy/West syndrome/CDKL5/De novo mutation引用本文复制引用
熊娟,彭镜,段浩林,陈施梦,尹飞..CDKL5综合征7例病例报告[J].中国循证儿科杂志,2017,12(6):442-445,4.基金项目
国家自然科学基金项目:81370771 （）
国家重点研发计划:2016YFC1306202 （）
