Congenital central hypoventilation syndrome

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ΕΤΥΜΟΛΟΓΙΑ

Also known as Ondine's curse, although the original article was of 3 patients with high cervical/brainstem surgery rather than the congenital form.[1] In German folklore, Ondine was a water nymph who married a mortal. Upon discovering his infidelity, she cursed him that he would stop breathing should he fall asleep. Other versions say that the King of the nymphs was responsible for the curse rather than Ondine herself.

Rare condition where autonomic control of breathing stops on falling asleep. 90% of cases associated with mutations in the homeobox genes, PHOX2B. Brain-derived neurotrophic factor dysfunction has also been implicated.

References

  1. Severinghaus JW, Mitchell RA. Undine's curse - failure of respiratory center automaticity while awake. Clin Res 1962;10:122.