Nasal mask average volume-assured pressure support in an infant with congenital central hypoventilation syndrome

Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and autonomic dysregulation secondary to mutations of the PHOX 2B genes. Treatment consists of assisted ventilation using positive pressure ventilators via tracheostomy, bi-level positive airway pressure (BPAP), negative pressure ventilators, or diaphragm pacing. Previous case reports have highlighted early use of nasal non-invasive BPAP use in infants with CCHS. We present a case of a 10-month-old infant who was successfully managed on a new feature of non-invasive ventilation called average volume assured pressure support (AVAPS) without the need for tracheostomy. The AVAPS feature enables the machine to automatically adjust the inspiratory pressures to deliver a constant targeted tidal volume. This feature enabled a better control of ventilation as indicated by a more stable transcutaneous carbon dioxide profile compared to conventional nasal non-invasive BPAP, making non-invasive ventilation a more accessible method of managing sleep hypoventilation in CCHS.