Cerebral hypoventilation syndrome

Last revised by Dr Joshua Yap on 25 Aug 2022

Cerebral hypoventilation syndrome refers to a congenital condition characterized by hypoventilation during sleep with no other abnormalities of the cardiorespiratory system. There is a decrease in the depth of breathing.

It is also known as central sleep apneacongenital central hypoventilation syndrome or Ondine’s curse.

This condition has an association with Hirschsprung disease (especially total colonic aganglionosis) with equal incidence in both sexes.

Approximately 50% of cerebral hypoventilation syndrome patients are known to have Hirschsprung disease and ~20% those patients will also have neuroblastoma or ganglioneuroma, usually multiple with associated abnormalities of the eye and autonomic nervous system 1. The aganglionosis is severe and is seen to extend into the small bowel.

Other associated features:

The respiratory symptom is detected on the first day of birth with the patient quickly given ventilatory support while the Hirschsprung disease is confirmed through barium studies and rectal biopsy.

Ondine, derived from the Latin word for "wave", is a water nymph figure from Germanic mythology 4,6. In one reiteration of the myth, Ondine cursed her unfaithful husband so that he would be unable to breathe unless he consciously controlled his breathing. "Ondine's curse" in medical literature was first coined by J W Severinghaus and R A Mitchell in 1962 to describe the failure of autonomic respiration 8.

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