Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence

To report the first case of congenital central hypoventilation syndrome (CCHS) presenting with severe cor pulmonale in an adolescent.

Case report and literature review. Our Institutional Review Board waived the need for consent.

Pediatric intensive care unit in a tertiary care children's hospital.

A 12-year-old girl who developed profound hypoxia following routine dental extraction under intravenous opiate sedation and became progressively obtunded due to marked hypoventilation without hypoxic arousal, requiring mechanical ventilation. She had evidence of severe right heart failure, but no cardiac, pulmonary, neurologic, or neuromuscular cause was identified. The diagnosis of CCHS was suspected and subsequently confirmed by blood polymerase chain reaction analysis that revealed a heterozygous polyalanine expansion mutation of the PHOX2B gene (five polyalanine repeats).

This report describes the unusual presentation of severe cor pulmonale in an adolescent with so-called "late-onset" CCHS. CCHS was previously thought to be a disease affecting only neonates, but the late-onset phenotype has now been well described in adults. It should be considered in any child presenting with unexplained right heart failure without an identifiable cause, particularly if central sleep apnea is present, because early initiation of ventilatory support can prevent cardiac and neurologic sequelae and improve outcome.