Noninvasive ventilation in a young infant with congenital central hypoventilation and 7‐year follow‐up

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare disorder characterized by alveolar hypoventilation and autonomic system dysregulation secondary to mutations of the PHOX2B gene. Treatment consists of assisted ventilation using positive-pressure ventilators via tracheostomy, bi-level positive airway pressure (BPAP) via a noninvasive interface, negative-pressure ventilators, or diaphragm pacing. The long-term use of BPAP in younger children at home has been less frequently reported. Case presentation: We present a case of a 2-month-old infant with CCHS who was successfully managed by BPAP without the need for tracheostomy and followed up for 7 years. Conclusion: CCHS is a rare disease that manifests as nocturnal desaturation and carbon dioxide retention in early life. Noninvasive ventilation can be successfully used in young infants via an appropriate mask. Key words: Congenital central hypoventilation syndrome; PHOX2B gene; Noninvasive ventilation