Michelle Yoo, Amit Shah, Haitham Shahrour, Hong Li, Ajay S. Kasi
Emory University and Children’s Healthcare of Atlanta.
United States
Journal of Clinical Sleep Medicine
J Clin Sleep Med 2025;
DOI: 10.5664/jcsm.11644
Abstract
Paired-like homeobox 2B (PHOX2B) gene variants cause congenital central hypoventilation syndrome (CCHS) characterized by abnormal ventilatory control necessitating lifelong assisted ventilation (AV). We report a 3-year-old girl who presented with apnea, hypoxemia, hypoventilation requiring AV, and Hirschsprung’s disease during infancy followed by resolution of hypoventilation. At 3 weeks, polysomnography showed obstructive and central sleep apnea, oxygen desaturations, and hypoventilation. A novel, heterozygous, paternal-inherited 2.77 Mb deletion in chromosome 4p14-p13 resulted in deletion of the entire PHOX2B gene, confirming the diagnosis of CCHS. PHOX2B whole-gene deletions are categorized as nonpolyalanine repeat mutations. AV via tracheostomy was utilized during sleep. At 2.8 years, diagnostic polysomnography was performed due to suboptimal adherence to AV that demonstrated central sleep apnea without hypoxemia or hypoventilation. There were no signs of chronic hypoventilation such as polycythemia, elevated serum bicarbonate, or pulmonary hypertension. CCHS is characterized by lifelong hypoventilation requiring AV. Despite a classic presentation of CCHS requiring early tracheostomy, polysomnography at 3 years of age indicated an absence of hypoventilation that represents a unique and atypical presentation in CCHS.
Category
Class III. Pulmonary Hypertension Associated with Airway Disease, Apnea or Hypoventilation
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
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