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

Congenital central hypoventilation syndrome is a rare illness, which classically presents in the neonatal period; newborns present with shallow breathing and cyanosis, without a physiological rise in breathing rate. Incidence has been estimated from 1 in 10 000 to 1 in 200 000 live births. This case...

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Bibliographic Details
Published inEmergency medicine journal : EMJ Vol. 27; no. 3; pp. 237 - 238
Main Authors Lovell, B L, Bullock, R E, Anderson, K N
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 01.03.2010
Subjects
Acute Disease
Adult
Alcohol
Alcohol Drinking
Carbon dioxide
Emergencies
Eye movements
Growth hormones
Humans
Hypoventilation - complications
Hypoventilation - congenital
Hypoventilation - diagnosis
Hypoventilation - therapy
Hypoxia
Male
Medical imaging
Mutation
Pathology
Positive-Pressure Respiration
Respiratory Insufficiency - etiology
Sleep
Sleep Apnea, Central - complications
Sleep Apnea, Central - diagnosis
Sleep Apnea, Central - therapy
Ventilation
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Summary:Congenital central hypoventilation syndrome is a rare illness, which classically presents in the neonatal period; newborns present with shallow breathing and cyanosis, without a physiological rise in breathing rate. Incidence has been estimated from 1 in 10 000 to 1 in 200 000 live births. This case report describes the case of a young man who was asymptomatic until his presentation in acute respiratory failure at the age of 36 years. This case is reported to highlight the importance of considering this treatable illness as a potential cause of collapse and respiratory failure in adults presenting to emergency departments.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:1472-0205
1472-0213
DOI:10.1136/emj.2009.072215