中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (1): 68-72.DOI: 10.19538/j.ek2024010614

• 病例报告 • 上一篇    下一篇

Pitt-Hopkins综合征临床特征及鉴别诊断3例报告

  

  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
  • 出版日期:2024-01-06 发布日期:2024-02-23
  • 通讯作者: 赵澎，电子信箱：patrickzhao@163.com
  • 基金资助:
    天津市医学重点学科（专科）建设项目（TJYXZDXK-040A）  

Clinical characteristics and differential diagnosis of Pitt-Hopkins syndrome: A report of cases

  1. Department of Rehabilitation，Tianjin Children’s Hospital，Tianjin  300400，China
  • Online:2024-01-06 Published:2024-02-23

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。

关键词: Pitt-Hopkins综合征, Rett样综合征, 特殊面容, TCF4基因

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.

Key words: Pitt-Hopkins syndrome, Rett-Like syndrome, special facial features, TCF4 gene