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Case Reports
. 2023 Sep 1;19(9):1697-1700.
doi: 10.5664/jcsm.10634.

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

Odeya Kagan  1 , Christina Zhang  1   2 , Christine McElyea  2   3 , Thomas G Keens  1   2 , Sally L Davidson Ward  1   2 , Iris A Perez  1   2
Affiliations
Case Reports

Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

Odeya Kagan et al. J Clin Sleep Med. .

Abstract

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the PHOX2B gene, characterized by a failure in autonomic control of breathing with diminished or absent response to hypoxia and hypercapnia, which is most pronounced during sleep. Most patients present from birth with central apneas and hypoventilation, or later in the setting of a physiologic stress. Recent literature in mice with a Phox2b27Ala/+ mutation suggests a predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report on three patients with obstructive sleep apneas with absent or mild hypoventilation. Our cases propose that obstructive apneas can be the primary presentation in patients who subsequently develop the classic phenotype of congenital central hypoventilation syndrome and emphasize their close monitoring and surveillance.

Citation: Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome. J Clin Sleep Med. 2023;19(9):1697-1700.

Keywords: CCHS; OSA; congenital central hypoventilation syndrome; obstructive sleep apnea.

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Conflict of interest statement

All authors have seen and approved the manuscript. Work for this study was performed at Children’s Hospital Los Angeles (CHLA), Los Angeles, California. The authors report no conflicts of interest.

Figures

Figure 1
Figure 1. Chest X-ray.
Moderately large cardio-mediastinal silhouette with a prominent pulmonary artery and hazy interstitial opacities.
See this image and copyright information in PMC

References

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Publication types

Supplementary concepts