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

作　　者：盛倩倩[1] 赵澎[1] 陈淑娟[1] 辛庆刚 SHENGQianqian;ZHAO Peng;CHEN Shu-juan(Department of Rehabilitation,Tianjin Children's Hospital,Tianjin 300400,China)

机构地区：[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

出　　处：《中国实用儿科杂志》2024年第1期68-72,共5页Chinese Journal of Practical Pediatrics

基　　金：天津市医学重点学科(专科)建设项目(TJYXZDXK-040A)。

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。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 

分 类 号：R72[医药卫生—儿科]