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01-12-2014 | Case Report

Congenital central hypoventilation syndrome and carbon dioxide sensitivity

Authors: Thomas Rossor, Aung Soe, Ravindra Bhat, Anne Greenough

Published in: European Journal of Pediatrics | Issue 12/2014

Abstract

Congenital central hypoventilation syndrome (CCHS) is characterised by hypoventilation most marked during sleep and is often associated with abnormalities of the autonomic nervous system. We report an infant with severe CCHS and Hirschsprung disease in whom, while awaiting genotyping, the diagnosis was facilitated by the results of a carbon dioxide (CO₂) sensitivity study in the neonatal period and was confirmed by paired-like homeobox 2B (PHOX2B) mutational analysis. The infant had no ventilatory response to increased inspired carbon dioxide levels when either awake or asleep suggesting he had a severe form for CCHS; indeed, he subsequently demonstrated to have the 20/31 genotype. This is the first case report of a genotype-confirmed CCHS disease in a neonate with Hirschsprung disease further characterised by a ventilatory challenge.

Conclusion: CO₂ sensitivity status may assist in determining the severity of the CCHS.

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Title: Congenital central hypoventilation syndrome and carbon dioxide sensitivity
Authors: Thomas Rossor
Aung Soe
Ravindra Bhat
Anne Greenough
Publication date: 01-12-2014
Publisher: Springer Berlin Heidelberg
Published in: European Journal of Pediatrics / Issue 12/2014
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-014-2432-1

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Congenital central hypoventilation syndrome and carbon dioxide sensitivity

Abstract

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

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