Fatal gastrointestinal complications in Pitt-Hopkins syndrome

Am J Med Genet A. 2023 Mar;191(3):855-858. doi: 10.1002/ajmg.a.63079. Epub 2022 Dec 13.

Abstract

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.

Keywords: aerophagia; bloating; constipation; pitt-hopkins; tcf4; volvulus.

Publication types

  • Case Reports

MeSH terms

  • Facies
  • Gastrointestinal Diseases* / complications
  • Humans
  • Hyperventilation / complications
  • Hyperventilation / diagnosis
  • Hyperventilation / genetics
  • Intellectual Disability* / diagnosis
  • Mutation
  • Transcription Factor 4 / genetics

Substances

  • Transcription Factor 4

Supplementary concepts

  • Pitt-Hopkins syndrome