rss
Emerg Med J 27:237-238 doi:10.1136/emj.2009.072215
  • Emergency casebook

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

  1. K N Anderson
  1. Newcastle General Hospital, Newcastle upon Tyne, Nebraska, USA
  1. Correspondence to Dr R E Bullock, Regional Centre for Neurosciences, Newcastle General Hospital, Westgate Road, Newcastle upon Tyne, UK; Robert.Bullock{at}nuth.nhs.uk
  • Accepted 23 March 2009

Abstract

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.

Footnotes

    fn-1
  • Competing interests None.

  • fn-2
  • Patient consent Obtained.

  • fn-3
  • Provenance and peer review Not commissioned; externally peer reviewed.