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Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.
- Source :
-
Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine [J Clin Sleep Med] 2023 Sep 01; Vol. 19 (9), pp. 1697-1700. - Publication Year :
- 2023
-
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.<br />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.<br /> (© 2023 American Academy of Sleep Medicine.)
- Subjects :
- Humans
Male
Female
Polysomnography
Infant
Homeodomain Proteins genetics
Transcription Factors
Sleep Apnea, Central genetics
Sleep Apnea, Central diagnosis
Sleep Apnea, Central complications
Sleep Apnea, Central physiopathology
Hypoventilation congenital
Hypoventilation genetics
Hypoventilation complications
Hypoventilation diagnosis
Sleep Apnea, Obstructive diagnosis
Sleep Apnea, Obstructive genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1550-9397
- Volume :
- 19
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 37185129
- Full Text :
- https://doi.org/10.5664/jcsm.10634