“Where the Body Forgets to Breathe” Congenital Central Hypoventilation Syndrome

Abstract

Congenital central hypoventilation syndrome (CCHS), also referred to as Ondine’s curse, is a rare, life-threatening disorder characterized by autonomic nervous system dysfunction, which mostly manifests as failure to maintain ventilatory homeostasis during sleep.1,2 Infants with CCHS have inadequate sensitivity to hypoxia and hypercapnia during sleep and in some cases during wakefulness, leading to persistent apnea. Until recently, this has been a diagnosis of exclusion; however recent literature has implicated a genetic etiology.1-5
We report a case of CCHS who presented on day D4 of life with persistent apnea. Diagnosis of primary pulmonary, cardiac, metabolic, neurologic disease, or injury was excluded before the diagnosis of CCHS was made. The diagnosis could be confirmed by a PHOX2B sequence analysis.