Schaaf-Yang综合征1例
One case of Schaaf-Yang syndrome
王成竹 1孙文强 1许书旸 1朱雪萍1
作者信息
- 1. 苏州大学附属儿童医院新生儿科,江苏苏州 215025
- 折叠
摘要
目的 报道1例Schaaf-Yang综合征,并复习相关文献,以加强对该病的认识和临床诊疗水平.方法 对1例诊断为Schaaf-Yang综合征的患儿的临床资料和治疗情况进行分析总结,并结合文献资料进行分析,对该疾病基因型、临床表型及治疗等进行讨论.结果 患儿,男孩,1岁4月龄时因"不会四爬伴发音少"就诊,全外显子组测序提示MAGEL2基因存在1个杂合变异,结合其临床表型确诊为Schaaf-Yang综合征,经康复治疗后,患儿运动及语言功能提高.结论 对于运动及语言发育迟缓的患儿,排除常见病因后,需警惕基因突变导致,完善基因检测确诊后可采取积极对症治疗及康复训练,提高此类患儿的社会适应能力并改善预后.
Abstract
Objective To report a case of Schaaf-Yang syndrome and review relevant literature to enhance the under-standing and clinical diagnosis of the disease.Methods The clinical data and treatment of a child diagnosed with Schaaf-Yang syndrome were analyzed and summarized,and combined with literature analysis,the clinical manifestations,genotypes,and treatment of the disease were discussed.Results The boy was diagnosed with Schaaf-Yang syndrome at the age of 1 year and 4 months due to"not being able to crawl on all fours and having few vocalizations".Whole-exome gene testing revealed a het-erozygous variant in the MAGEL2 gene,which was confirmed to be Schaaf-Yang syndrome with his clinical phenotype.After rehabilitation treatment,the child's motor and language functions improved.Conclusion For children with motor and lan-guage delays,after excluding common causes,it is necessary to be vigilant for multisystem diseases caused by gene mutations.After diagnosis,active treatment and rehabilitation training can be adopted to improve the social adaptability of such children.
关键词
Schaaf-Yang综合征/发育迟滞/黑色素瘤抗原样基因2/康复训练Key words
Schaaf-Yang syndrome/developmental delay/melanoma antigen L2 gene(MAGEL2)/rehabilitation training引用本文复制引用
基金项目
国家自然基金面上项目(81971423)
国家自然基金面上项目(82271741)
江苏省卫生计生委重大科研项目(ZD2021013)
姑苏卫生领军人才计划(GSWS2022055)
苏州大学临床医学科技高端平台和转化基地建设项目(ML13101523)
苏州大学附属儿童医院"遂园"临床研究项目(2023SYLCYJ03)
出版年
2024
NETL
NSTL
万方数据