40: Congenital Central Hypoventilation Syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of failure of automatic control of breathing and dysfunction of autonomic nervous system.^1,2,3  It is caused by a mutation in the PHOX2B gene that plays an important role in the migration of neural crest cells and development of the autonomic nervous system.^4,5  The most serious manifestation is significant hypoventilation that is always present during sleep but may also extend into wakefulness. Affected individuals commonly present at birth. Some patients present later, although the genetic defect is present at birth.^6,7...