Pitt-Hopkins综合征临床特征及鉴别诊断3例报告
Clinical characteristics and differential diagnosis of Pitt-Hopkins syndrome:A report of cases
盛倩倩 1赵澎 1陈淑娟 1辛庆刚1
作者信息
- 1. 天津市儿童医院/天津大学儿童医院康复科 天津市儿科研究所 天津市儿童出生缺陷防治重点实验室,天津 300400
- 折叠
摘要
对2019年5月至7月天津市儿童医院康复科收住院的3例TCF4基因突变所致Pitt-Hopkins综合征(PTHS)患儿临床特征的分析,3例均行全外显子测序,对阳性检测结果用一代测序进行验证,总结其临床特征,并与其他Rett样综合征进行鉴别,结果发现,3例先证者均存在TCF4基因杂合变异,父母均为野生型.3例患儿均有全面发育迟缓、特殊面容、孤独症谱系障碍表现.1例合并癫痫及明显的自主神经症状.与其他Rett样综合征鉴别诊断时,患儿的面部特征具有较高的特异性.TCF4基因变异所致PTHS与其他Rett样综合征临床特征有较多重叠的,面部特征是鉴别诊断的要点.
Abstract
Analyze the clinical characteristics of 3 patients with Pitt-Hopkins syndrome(PTHS)due to TCF4 gene mutation,who were hospitalized in Tianjin Children's Hospital from May to July 2019.All the 3 children underwent whole exon sequencing,and the positive results were verified by first-generation sequencing.Summarize its clinical features and differentiate it with other Rett-like syndromes.The results showed that all 3 proband had heterozygous variation of TCF4 gene,and their parents were wild-type.All the 3 children presented with global developmental delay,special facial features and autism spectrum disorder.Among them,1 patient had epilepsy and obvious autonomic nerve symptoms.In the differential diagnosis with other Rett-like syndromes,the facial features of children had high specificity.The clinical features of PTHS caused by TCF4 gene mutation and other Rett-like syndromes are mostly overlapped.Facial features are key to differential diagnosis.
关键词
Pitt-Hopkins综合征/Rett样综合征/特殊面容/TCF4基因Key words
Pitt-Hopkins syndrome/Rett-Like syndrome/special facial features/TCF4 gene引用本文复制引用
基金项目
天津市医学重点学科(专科)建设项目(TJYXZDXK-040A)
出版年
2024
国家科技期刊平台
NSTL
维普
万方数据