An unusual presentation of congenital central hypoventilation syndrome (Ondine's Curse)

Emergency Medicine Journal

Volumn 27, Issue 3, 2010, Pages 237-238

  Lovell, B L ^a   Bullock, R E ^a   Anderson, K N ^a  

^a NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACUTE RESPIRATORY FAILURE; ADULT; AIRWAY PRESSURE; ALCOHOL TOLERANCE; ANAMNESIS; APNEA; ARTICLE; BREATHING RATE; CASE REPORT; CLINICAL FEATURE; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; CYANOSIS; DAYTIME SOMNOLENCE; EMERGENCY WARD; GENE MUTATION; GENETIC DISORDER; HEART FUNCTION; HUMAN; HYPERCAPNIA; INCIDENCE; MALE; NERVE CONDUCTION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXYGEN SATURATION; PRIORITY JOURNAL; SLEEP PATTERN;

ACUTE DISEASE; ADULT; ALCOHOL DRINKING; EMERGENCIES; HUMANS; HYPOVENTILATION; MALE; POSITIVE-PRESSURE RESPIRATION; RESPIRATORY INSUFFICIENCY; SLEEP APNEA, CENTRAL;

EID: 77949894302     PISSN: 14720205     EISSN: 14720213     Source Type: Journal    
DOI: 10.1136/emj.2009.072215     Document Type: Article

References (4)

1. Berry-Kravis EM, Zhou L, Rand CM, et al. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 2006;174:1139-44.
2. Shea S, Andres L, Shannon DC, et al. Ventilatory responses to exercise in humans lacking ventilatory chemosensitivity. J Physiol 1993;468:623-40.
3. Antic N, Malow B, Lange N, et al. PHOX2B mutationconfirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med 2006;174:923-7.
4. Trang H, Dehan M, Beaufils F, et al. The French congenital central hypoventilation syndrome registry: general data, phenotype, and genotype. Chest 2005;127:72-9.