合并颅颈交界区畸形的Wiedemann-Steiner综合征1例
A case of Wiedemann-Steiner syndrome with craniocervical junction anomalies
裴丽 1徐丽娟 2张蔷 2马凡舒 1帅金凤2
作者信息
- 1. 河北省儿童医院,河北石家庄 050031;河北医科大学研究生学院,河北石家庄 050017
- 2. 河北省儿童医院,河北石家庄 050031
- 折叠
摘要
本文对1例合并颅颈交界区(CVJ)畸形的Wiedemann-Steiner综合征(WDSTS)患儿的临床资料进行回顾性分析.患儿,女,8岁,因"身高增长缓慢8年"就诊,身高:111.4 cm(＜-3SD),以身材矮小、精神运动发育落后、特殊面容及多毛为主要表现,头颅MRI示颈1层面水平椎管狭窄,脊髓受压变细.寰枢椎CT平扫+三维重建:寰椎前后弓未闭合;颈2～3椎体融合.齿状突距两侧块距离不等.全外显子组测序发现患儿携带KMT2A基因,有1个杂合突变:c.2318dup杂合突变,导致氨基酸发生无义突变(p.Ser774ValfsTer12).近年来,随着WDSTS报道数量的增加,其基因型和表型谱不断扩大,CVJ畸形也被列入WDSTS的表型谱中,目前,国内暂无WDSTS合并CVJ畸形表型的报道,此类畸形在很大程度上易被忽略.通过此例患儿的报道,有望提高对该病的认识,以早期发现和预防WDSTS患者的颅颈交界区畸形引起的并发症.
Abstract
To review and analyze the clinical date of a child with Wiedemann-Steiner syndrome(WDSTS)compli-cated with craniocervical junction(CVJ)malformation.The eight-year old girl presented with growth retardation for eight years,with height 111.4cm(＜-3SD),mainly characterized by short stature,poor psychomotor development,typical facial dismorphism and hypertrichosis.Cranial MRI showed the spinal canal is narrowed at the level of cervical 1,and the spinal cord becomes thinner due to compression.Atlantoaxial CT:the anterior and posterior arches of the atlas are not closed;the cervical 2-3 pyramids are fused.The distance between the odontoid process and the two sides of the block is not equal.Whole-exome sequencing revealed that the child carried the KMT2A gene,and had a heterozygous mutation:c.2318dup heterozygous mutation,which resulted in a nonsense amino acid mutation(p.Ser774ValfsTer12).In recent years,with the increase in the number of WDSTS reports,it's genotype and phenotype spectrum have continued to expand,and CVJ mal-formation has also been included in the WDSTS phenotype spectrum.At present,there are no domestic reports of WDSTS combined with CVJ,which is largely overlooked.Through the report of this patient,it is expected to improve the under-standing of the disease,so as to detect and prevent the complications caused by craniocervical junction deformity in WDSTS patients at an early stage.
关键词
Wiedemann-Steiner综合征/KMT2A基因/颅颈交界区Key words
Wiedemann-Steiner syndrome/KMT2A gene/craniocervical junction引用本文复制引用
出版年
2024
NETL
NSTL
万方数据