Clinical characteristics and differential diagnosis of Pitt-Hopkins syndrome:A report of cases
SHENG Qian-qian
ZHAO Peng
CHEN Shu-juan
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.
Keywords：Pitt-Hopkins syndromeRett-Like syndromespecial facial featuresTCF4 gene
Publication Date：2024-01-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 68-72 )