Jacob McCoy, MD
The Hospital for Sick Children, Toronto, ON

This case presentation examines a late preterm infant who presented with persistent respiratory acidosis at seven days of life despite non-invasive ventilatory support. Initial inpatient polysomnography revealed severe central sleep apnea and hypoventilation, worse in non-REM sleep, characteristic for congenital central hypoventilation syndrome. After initial treatment with bilevel PAP therapy, the baby was trialed off in the NICU under close observation, and remained stable in room air without evidence of hypercapnia. Genetics for congenital central hypoventilation syndrome returned negative, and repeat polysomnography one month later revealed moderate, mostly REM-related central sleep apnea (CAHI 14/hr), without any evidence of hypercapnia or hypoventilation.

Learning Objectives:
At the end of this presentation, attendees will be able to:

  • Describe the cardinal clinical and polysomnographic features of congenital central hypoventilation syndrome;
  • Differentiate the presentation and management of idiopathic central sleep apnea in infants with CCHS; and
  • Identify the need for further research into normative polysomnographic data in neonates.

CanMEDS Roles Addressed: Health Advocate, Medical Expert