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Obstructive sleep apnea as a presentation of congenital central hypoventilation syndrome.

Congenital central hypoventilation syndrome (CCHS) 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, 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 predisposition to obstructive apneas likely due to hypoglossal dysgenesis. We report 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 CCHS and emphasize their close monitoring and surveillance.

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