Congenital central hypoventilation syndrome.

ABSTRACT

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.