June 8, 2015: Ondine’s Curse
June 8, 2015
Ondine’s curse, or congenital central hypoventilation syndrome (CCHS) is a rare neurologic based respiratory disorder, with an incidence of 1 per 200,000 live births1. First described in 1962 by Severinghaus and Mitchell, CCHS results in alveolar hypoventilation in sleep, most prominent during slow-wave sleep and rarely in wakefulness2. Treatment requires mechanical ventilator support, often lifelong. A large series found an association with Hirschprung disease and found mutations in the PHOX2B gene in 91% of cases1. PHOX2B is a homeobox gene implicated in the development of the autonomic nervous system.
- Trang H, Dehan M, Beaufils, F, et al. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 2005; 127: 72-79.
- Gozal, D. Congenital central hypoventilation syndrome: an update. Pediatric Pulmonology 1998; 26: 273-282.
Submitted by Adam Numis, MD, Department of Neurology, University of California, Los Angeles.
Disclosures: Dr. Numis is a member of the Residents & Fellows Section of Neurology.