摘要
目的总结CSNK2B基因变异相关Poirier-Bienvenu神经发育综合征的临床表型及遗传学特征。方法回顾性分析2022年3月郑州大学附属儿童医院神经内科确诊的1例CSNK2B基因剪切变异致Poirier-Bienvenu神经发育综合征患儿的临床、遗传学及随访的相关资料,查阅国内外既往相关文献进行复习,对该疾病的临床特征进行总结。结果患儿为13个月女童,主因“间断抽搐2个月”就诊。临床表现为面容正常,全面性强直-阵挛癫痫发作,智能低下,语言及运动发育迟缓,长程视频脑电图及头颅磁共振成像结果无异常。染色体核型分析及染色体拷贝变异系数分析检查均未见异常。全外显子基因测序检测提示患儿携带CSNK2B基因c.291+5G>C新生杂合剪切变异,目前尚未见相关文献报道。根据患儿临床表现及基因检查结果,Poirier-Bienvenu神经发育综合征诊断明确。先证者父母及双胞胎妹妹CSNK2B基因为野生型。应用丙戊酸钠抗癫痫发作药物治疗可有效控制患儿癫痫发作,同时给予康复功能训练,患儿语言及大运动功能得到改善。结论Poirier-Bienvenu神经发育综合征是一种由CSNK2B基因变异导致的罕见常染色体显性疾病。临床表现为婴儿期起病的癫痫发作,智力、语言及运动发育障碍等,视频脑电图及头颅磁共振表现多正常。CSNK2B基因剪切变异为本例先证者的遗传学病因。
Objective To summarize the clinical phenotype and genetic characteristics of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene variation.Methods The clinical and genetic data of a child with Poirier-Bienvenu neurodevelopmental syndrome caused by shear variant of CSNK2B gene who was diagnosed in the Department of Neurology,Children′s Hospital Affiliated to Zhengzhou University in March 2022 were collected.Previous relevant literature at home and abroad was reviewed to summarize the clinical characteristics of the disease.Results The child was a girl aged 13 months,mainly due to"intermittent convulsions for 2 months"for consultation.The clinical manifestations of the girl were normal face,generalized tonic-clonic seizures,low intelligence,language and motor retardation,and there was no abnormality in the long-range video electroencephalography and the head magnetic resonance imaging.No abnormality was found in chromosome karyotype analysis and chromosome coefficient of copy variation analysis.The whole exon gene sequencing test indicated that the child carried de novo heterozygous shear variant of CSNK2B gene c.291+5G>C,which had not been reported in the literature.According to the clinical manifestations and genetic examination results of the child,the diagnosis of Poirier-Bienvenu neurodevelopmental syndrome was clear.The CSNK2B gene of the proband′s parents and the twin sister was wild-type.The application of sodium valproate anti-seizure medication could effectively control the seizures of the child,and by giving rehabilitation function training,the child′s language and gross motor function was improved.Conclusions The Poirier-Bienvenu neurodevelopmental syndrome is a rare autosomal dominant disorder caused by variants in the CSNK2B gene.The clinical manifestations are infancy-onset seizures,intellectual development disorders,language and motor development disorders,etc,and the video electroencephalogram and skull magnetic resonance are mostly normal.The CSNK2B gene shear variant is the genetic etiology of the proband.
作者
梅道启
谷裕
梅世月
段勇涛
王潇娜
高超
贺秋平
张耀东
Mei Daoqi;Gu Yu;Mei Shiyue;Duan Yongtao;Wang Xiaona;Gao Chao;He Qiuping;Zhang Yaodong(Department of Neurology,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China;Henan Provincial Key Laboratory of Children′s Genetics and Metabolic Diseases,Henan Engineering Research Center of Childhood Neurodevelopment,Zhengzhou 450018,China;Department of Rehabilitation Medicine,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China)
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2023年第6期686-694,共9页
Chinese Journal of Neurology
基金
国家自然科学基金(81701125,81901387)
国家人口与健康科学数据共享平台研究项目(SJPT-03-01)
科技部国际合作项目(G2021026025L)
河南省科技厅科技攻关计划(232102310077)
河南省医学教育项目(WJLX2022144)
河南省医学科技攻关计划联合共建项目(LHGJ20200618,LHGJ20200632,2018020633)
河南省儿科疾病临床医学研究中心开放课题(YJZX202205)
河南自然科学基金(232300421086)
国家精卫中心儿童健康素养提升项目。
