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Case Reports
. 2019 Dec 21;3(4):261-264.
doi: 10.1002/ped4.12167. eCollection 2019 Dec.

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

Zhifei Xu  1 , Yunxiao Wu  2 , Bei Li  3 , Li Zheng  3 , Jingyuan Liu  4 , Kunling Shen  1
Affiliations
Case Reports

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

Zhifei Xu et al. Pediatr Investig. .

Abstract

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.

Keywords: Congenital central hypoventilation syndrome; Noninvasive ventilation; PHOX2B gene.

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Conflict of interest statement

There are no conflicts of interest relevant to this article.

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