Fatal gastrointestinal complications in Pitt-Hopkins syndrome

被引：5

作者：

Koppen, Ilan J. N. ^{[1
,9
]}

Menke, Leonie A. A. ^{[2
]}

Westra, Wytske M. M. ^{[3
,4
]}

Struik, Femke ^{[5
]}

Mesman, Simone ^{[6
]}

Van Wijk, Michiel P. P. ^{[7
]}

Huisman, Sylvia A. A. ^{[2
,8
]}

机构：

[1] Univ Amsterdam, Emma Childrens Hosp, Amsterdam UMC, Dept Pediat Gastroenterol & Nutr, Amsterdam, Netherlands

[2] Univ Amsterdam, Emma Childrens Hosp, Amsterdam UMC, Dept Pediat, Amsterdam, Netherlands

[3] Univ Amsterdam, Dept Gastroenterol & Hepatol, Amsterdam UMC, Amsterdam, Netherlands

[4] Dept Gastroenterol & Hepatol, Meander Med Ctr, Amersfoort, Netherlands

[5] Univ Amsterdam, Amsterdam UMC, Dept Radiol & Nucl Med, Amsterdam, Netherlands

[6] Univ Amsterdam, Swammerdam Inst Life Sci, FNWI, Amsterdam, Netherlands

[7] Vrije Univ Amsterdam, Emma Childrens Hosp, Amsterdam UMC, Dept Pediat Gastroenterol & Nutr, Amsterdam, Netherlands

[8] Zodiak, Prinsenstichting, Purmerend, Netherlands

[9] locat Univ Amsterdam, Amsterdam UMC, Emma Childrens Hosp, Dept Pediat Gastroenterol & Nutr, Meibergdreef9, Amsterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2023年 / 191卷 / 03期

关键词：

aerophagia; bloating; volvulus; constipation; pitt-hopkins; tcf4; PERFORATION; AEROPHAGIA;

D O I：

10.1002/ajmg.a.63079

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations of the transcription factor 4 (Tcf4) gene. Individuals with PTHS often suffer from severe abdominal bloating and constipation. In this short communication, we discuss two individuals with PTHS who died unexpectedly due to gastrointestinal complications. We aim to increase awareness among healthcare professionals who care for individuals with PTHS, to ensure adequate screening and management of gastrointestinal symptoms in this population. Moreover, we discuss how fatal gastrointestinal complications may be related to PTHS and provide an overview of the literature.

引用

页码：855 / 858

页数：4

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