Congenital Central Hypoventilation Syndrome in an Adult With Diaphragmatic Pacing Failure

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of autonomic nervous system dysregulation caused by mutations in the PHOX2B gene.While volitional respiration remains intact, autonomic ventilatory responses to hypoxemia and hypercarbia are absent or attenuated, often culminating in significant alveolar hypoventilation.CCHS initially presents in the neonatal period, with patients often requiring temporary tracheostomy followed by diaphragmatic pacing.While prognoses in the past were grim, with advances in proper ventilatory support, many patients with CCHS are successfully transitioning to adult care, where they face a different set of challenges.We present the case of a 46-year-old woman with CCHS and a non-functional diaphragmatic pacemaker who presented with acute hypoxic and hypercapnic respiratory failure precipitated by an upper respiratory tract infection.The case highlights the vulnerability of adult CCHS patients and discusses the role of non-invasive positive pressure ventilation (NIPPV) in longterm management.