Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature

Richard Wolff; Benjamin Dudoignon; Jérôme Naudin; Amélia Madani; Christophe Delclaux; Plamen Bokov; Stéphane Dauger

doi:10.1016/j.arcped.2023.12.002

Airway obstruction in two children with congenital central hypoventilation syndrome and review of the literature

Arch Pediatr. 2024 Apr;31(3):205-208. doi: 10.1016/j.arcped.2023.12.002. Epub 2024 Mar 27.

Authors

Richard Wolff¹, Benjamin Dudoignon², Jérôme Naudin¹, Amélia Madani³, Christophe Delclaux⁴, Plamen Bokov⁴, Stéphane Dauger⁵

Affiliations

¹ Université de Paris-Cité, AP-HP, Hôpital Robert Debré, Service de Médecine intensive et réanimation pédiatriques, F-75019 Paris, France.
² Université de Paris-Cité, AP-HP, Hôpital Robert Debré, Service de Physiologie Pédiatrique-Centre du Sommeil - CRMR Maladies respiratoires rares - Hypoventilations alvéolaires rares - Syndrome d'Ondine, INSERM NeuroDiderot, F-75019 Paris, France; Université de Paris-Cité, AP-HP, Hôpital Robert Debré, INSERM NeuroDiderot, F-75019 Paris, France. Electronic address: benjamin.dudoignon@aphp.fr.
³ Université de Paris-Cité, AP-HP, Hôpital Robert Debré, INSERM NeuroDiderot, F-75019 Paris, France.
⁴ Université de Paris-Cité, AP-HP, Hôpital Robert Debré, Service de Physiologie Pédiatrique-Centre du Sommeil - CRMR Maladies respiratoires rares - Hypoventilations alvéolaires rares - Syndrome d'Ondine, INSERM NeuroDiderot, F-75019 Paris, France; Université de Paris-Cité, AP-HP, Hôpital Robert Debré, INSERM NeuroDiderot, F-75019 Paris, France.
⁵ Université de Paris-Cité, AP-HP, Hôpital Robert Debré, Service de Médecine intensive et réanimation pédiatriques, F-75019 Paris, France; Université de Paris-Cité, AP-HP, Hôpital Robert Debré, INSERM NeuroDiderot, F-75019 Paris, France.

PMID: 38538464
DOI: 10.1016/j.arcped.2023.12.002

Abstract

Congenital central hypoventilation syndrome (CCHS) is an autosomal dominant disease that is caused by heterozygous mutations in the paired-like homeobox 2B gene (PHOX2B). Madani et al. described an abnormally high degree of not only central apnea but also obstructive and mixed apnea in Phox2b^27Ala/+newborn mice. Newborns with CCHS must undergo polysomnography for obstructive respiratory events in order to guide the optimal ventilation strategy if oxygen desaturation, bradycardia, and malaise persist under noninvasive ventilation. Newborns and infants with CCHS must be systematically tested for obstructive apnea, especially in cases of inefficient noninvasive ventilation.

Keywords: Congenital central hypoventilation syndrome; Mechanical ventilation; Obstructive sleep apnea.

Publication types

Case Reports
Review

MeSH terms

Airway Obstruction* / etiology
Animals
Child
Homeodomain Proteins / genetics
Humans
Hypoventilation* / congenital
Infant
Infant, Newborn
Mice
Mutation
Sleep Apnea, Central* / diagnosis
Sleep Apnea, Central* / genetics
Sleep Apnea, Central* / therapy
Sleep Apnea, Obstructive*
Transcription Factors / genetics

Substances

Homeodomain Proteins
Transcription Factors

Supplementary concepts

Congenital central hypoventilation syndrome