Background: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder that causes alveolar hypoventilation because of impaired chemoreceptor response to hypercapnia and hypoxia occurring due to a dysfunctional central autonomic drive. CCHS is a result of pathogenic variants of the PHOX2B gene, which affects neural crest cell development. Consequently, CCHS can be accompanied by dysregulation of the autonomic system, Hirschsprung’s disease and other gastrointestinal disorders, cardiac arrhythmias, and neural cell-derived tumors. Disease severity correlates with mutation type and determines ventilatory requirements, with management centered on lifelong respiratory support and multidisciplinary monitoring for associated comorbidities.

Case Presentation: This case describes a term infant delivered via emergency cesarean section for maternal hypotension and fetal bradycardia who presented with apnea and required intubation due to failure to respond to positive pressure ventilation. The infant experienced recurrent apnea, hypercarbia, and ventilator dependence due to multiple failed extubation attempts, with an unrevealing evaluation for pulmonary, cardiac, neurologic, metabolic, and infectious causes. Genetic testing identified a PHOX2B polyalanine repeat expansion consistent with CCHS. This case demonstrates a stepwise multidisciplinary approach with concurrent genetic evaluation that enabled early diagnosis, timely management, and improved outcome.

Received: 16 March 2026

Accepted after revision: 09 May 2026

Accepted Manuscript online:
14 May 2026

Article published online:
02 June 2026

© 2026. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/).

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