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

Emerg Med J. 2010 Mar;27(3):237-8. doi: 10.1136/emj.2009.072215.

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.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Adult
  • Alcohol Drinking
  • Emergencies
  • Humans
  • Hypoventilation / complications
  • Hypoventilation / congenital*
  • Hypoventilation / diagnosis
  • Hypoventilation / therapy
  • Male
  • Positive-Pressure Respiration
  • Respiratory Insufficiency / etiology*
  • Sleep Apnea, Central / complications*
  • Sleep Apnea, Central / diagnosis*
  • Sleep Apnea, Central / therapy

Supplementary concepts

  • Congenital central hypoventilation syndrome