Congenital Central Hypoventilation Syndrome: A Case-Based Learning Opportunity for Neonatal Clinicians

Congenital central hypoventilation syndrome (CCHS) is a rare and sporadic neurocristopathy characterized by alveolar hypoventilation and autonomic nervous system dysfunction. CCHS manifests quickly after birth, initially as respiratory distress. Mortality risk is estimated at 38 percent, with a median age of death of three months of age. A timely and accurate diagnosis is critical. Genetic testing for PHOX2B gene mutations is necessary to confirm the diagnosis; however, laboratory turnaround time often imposes an additional 7-14-day waiting period on an often anxious family. Neonatal clinicians should recognize that families require disease-specific education, emotional support, and time to rehearse daily caregiving in preparation for discharge. Therefore, this article presents the key clinical, pathophysiologic, and diagnostic factors, as well as a discussion of discharge needs. A case report of an infant, born to parents with no known history of CCHS, is included as a case-based learning opportunity for readers.