Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

UNLABELLED

Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the gene. There have been case reports describing variable phenotypes and mutations of the gene, not commonly tested for, that may challenge the classic definition of CCHS. We report on 3 family members with a rare heterozygous deletion encompassing the entire gene with variable phenotypes, including sleep-disordered breathing and autonomic nervous system involvement, but an unexpected lack of alveolar hypoventilation, which is usually a defining feature of CCHS. Our cases highlight the dilemmas in making a diagnosis of CCHS and emphasize the need for expanded genetic testing, including for gene deletion. More patients with variable phenotypes of CCHS may be identified through comprehensive genetic testing and warrant surveillance as they are still at risk for high-risk complications of CCHS.

CITATION

Wo LL, Itani R, Keens TG, Marachelian A, Ji J, Perez IA. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome? . 2023;19(6):1161-1164.