A case of Poirier-Bienvenu neurodevelopmental syndrome associated with CSNK2B gene shear variation and literature review
10.3760/cma.j.cn113694-20221115-00846
- VernacularTitle:CSNK2B基因变异相关Poirier-Bienvenu神经发育综合征1例并文献复习
- Author:
Daoqi MEI
1
;
Yu GU
;
Shiyue MEI
;
Yongtao DUAN
;
Xiaona WANG
;
Chao GAO
;
Qiuping HE
;
Yaodong ZHANG
Author Information
1. 郑州大学附属儿童医院（河南省儿童医院 郑州儿童医院）神经内科，郑州 450018
- Keywords:
CSNK2B gene;
Poirier-Bienvenu neurodevelopmental syndrome;
Shear variation;
Child
- From:
Chinese Journal of Neurology
2023;56(6):686-694
- CountryChina
- Language:Chinese
-
Abstract:
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.
