Congenital central hypoventilation syndrome
Congenital central hypoventilation syndrome: Failure from birth of central nervous system control over breathing while asleep. There are usually no breathing problems while awake. The involuntary (autonomic) control of respiration is impaired, but the voluntary control of ventilation which operates during waking hours is generally intact.
The neurologic problem can extend to the control over the motility of the esophagus and the colon. Reduced esophageal motility causes food to move too slowly down to the stomach. Reduced motility of the colon produces a condition called Hirschsprung disease (megacolon) with severe constipation and even obstruction. The heart rate may be abnormally slow.
Some patients have down slanting eyes, a small nose, a triangular-shape mouth, and ears that are low-set and backwards rotated.
The names for this disease include congenital central hypoventilation syndrome with Hirschsprung disease, congenital failure of autonomic control, idiopathic central alveolar hypoventilation, central sleep apnea with severe hypoventilation, and Ondine’s curse.
Ondine (Undine) was a female water sprite who loved a knight but was condemned to stay awake in order to breathe.
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