Congenital central hypoventilation syndrome (CCHS) is an uncommon disorder characterized by the absence of adequate autonomic control of respiration, which results in alveolar hypoventilation and decreased sensitivity to hypercarbia and hypoxemia, especially during sleep. Patients with CCHS need lifelong ventilatory support. The treatment options for CCHS include intermittent positive pressure ventilation administered via tracheostomy, noninvasive positive pressure ventilation, negative-pressure ventilation by body chamber or cuirass, and phrenic nerve pacing. However, it may be necessary to alter the mode of ventilation according to age, psychosocial reasons, complications of therapy, and emergence of new modes of ventilation. We present a case of a 16-year-old girl with CCHS who was mechanically ventilated via tracheostomy for 16 years and was successfully transitioned to a new modality of noninvasive ventilation (average volume-assured pressure support [AVAPS]) that automatically adjusts the pressure support level in order to provide a consistent tidal volume.
Keywords: Central congenital hypoventilation syndrome; respiratory management; tracheostomy.