| Popis: |
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the control of breathing, usually emerging during the newborn period and classically manifesting as severe alveolar hypoventilation and a monotonous respiratory pattern during sleep. While the principle clinical manifestation of CCHS is a ventilatory defect, many affected patients also exhibit broader autonomic dysfunction. CCHS is caused by mutations of the gene PHOX2B, with a range of mutations yielding a spectrum of clinical severity in both the ventilatory and autonomic dysfunction. Early detection and management of this disease may prevent adverse neurocognitive and cardiorespiratory outcomes for affected patients. The sleep medicine physician with autonomic expertise is central in the diagnosis and effective longitudinal management of this rare but clinically impactful disorder. |
