The Physiology of Ondine’s curse – An Untold Story

Gajalakshmi G
Professor & HOD,
Department of Physiology,
Asan Memorial Dental College & Hospital,
Chengalpattu, Tamil Nadu, India

  • Ondine’s curse is a classical myth story which is also called Central Hypoventilation syndrome. In this ancient mythical story, a young nymph named Ondine falls in love with a handsome knight, Palemon and marries him. Later she discovers that her husband had been unfaithful to her, she uses her supernatural powers to set a curse on her disloyal husband in which he retains the ability to breathe, but only when he is awake and conscious. Hence the victim cannot breathe if he falls asleep and therefore must choose between sleeping and remaining alive. Patients with central hypoventilation syndrome do not have the ability to maintain regular respiration during sleep or may stop breathing during sleep. Interruption of breathing can cause a decrease in oxygen supply to the body and symptoms usually can range from fatigue to organ damage to death. Damage to the lateral medulla caused by stroke, tumors, and trauma accounts for acquired conditions of central hypoventilation syndrome. Discovery in mutations of PHOX2B gene is responsible for this condition and it is not likely to be hereditary. There are two types namely Classical Congenital Hypoventilation Syndrome (CCHS) and isolated congenital central hypoventilation syndrome. Children with PHOX2B gene frame shift mutations, also have Hirschsprung’s disease and Neuroblastoma and are described as having Classical Congenital Hypoventilation Syndrome (CCHS) and the another PHOX2B mutation, a polyalanine expansion which has been described in children with isolated congenital central hypoventilation syndrome. CCHS is a neurocristopathy caused primarily by the mutation of the paired like homeobox PHO2XB gene. Despite advances in diagnosis of PHOX2B, treatment of Ondine’s curse continues to rely on respiratory support with mechanical ventilation, and sometimes tracheostomy, as the cornerstones of treatment. Depending on the severity of the condition, life expectancy is expected to be shortened, although supportive measures are extending the survival.
  • Keywords: central hypoventilation syndrome, Ondine’s curse, PHOX2B mutation