Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome

• Published in: Journal of clinical sleep medicine Vol. 19; no. 9; pp. 1697 - 1700
• Main Authors: Kagan, Odeya, Zhang, Christina, McElyea, Christine, Keens, Thomas G, Davidson Ward, Sally L, Perez, Iris A
• Format: Journal Article
• Language: English
• Published: United States American Academy of Sleep Medicine 01-09-2023
• Subjects: Case Reports; Female; Homeodomain Proteins - genetics; Humans; Hypoventilation - complications; Hypoventilation - congenital; Hypoventilation - diagnosis; Hypoventilation - genetics; Infant; Male; Polysomnography; Sleep Apnea, Central - complications; Sleep Apnea, Central - diagnosis; Sleep Apnea, Central - genetics; Sleep Apnea, Central - physiopathology; Sleep Apnea, Obstructive - diagnosis; Sleep Apnea, Obstructive - genetics; Transcription Factors; obstructive sleep apnea; congenital central hypoventilation syndrome; CCHS; OSA
• ISSN: 1550-9389; 1550-9397; 1550-9397
• DOI: 10.5664/jcsm.10634

Congenital central hypoventilation syndrome is a rare disorder due to a mutation in the
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
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.
Kagan O, Zhang C, McElyea C, Keens TG, Davidson Ward SL, Perez IA. Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.
. 2023;19(9):1697-1700.