Congenital Central Hypoventilation Syndrome Presenting with Seizures

Congenital central hypoventilation syndrome (CCHS) is a critical and rare autosomal dominant disorder that was first described by Robert Mellins in 1970. CCHS is defined to be an autonomic nervous system (ANS) dysfunction that usually presents in the neonatal period with hypoventilation and dysregulated autonomic homeostasis on a multi-system level. Classically, CCHS presents with normal ventilation while awake, and hypoventilation with normal respiratory rate during sleep. CCHS has been causally linked to the paired-like homeobox 2B (PHOX2B) gene. We report the case of a full-term male infant diagnosed with CCHS at two months of age with repeated extubation failure secondary to CCHS. The patient was discharged at five months of age with a home ventilator.