[Two children with late-onset congenital central hypoventilation syndrome]

Area of Science:

• Pediatric Pulmonology
• Genetics
• Neurology

Context:

• Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting autonomic control of breathing.
• Late-onset CCHS presents diagnostic challenges, often with delayed recognition of respiratory failure.

Purpose:

• To report two cases of late-onset congenital central hypoventilation syndrome (CCHS) in children.
• To describe the clinical presentation, diagnostic process, and management strategies for these patients.

Summary:

• Two children, one male and one female, developed respiratory failure at 1.5 years and 11 months, respectively, diagnosed with late-onset CCHS.
• Management involved non-invasive ventilation, tracheostomy, and mechanical ventilatory support during sleep, enabling autonomous breathing during the day.
• Both patients exhibited normal growth and development during a 2-year follow-up period.

Impact:

• Highlights the importance of considering CCHS in pediatric respiratory failure, even with a late onset.
• Demonstrates the effectiveness of individualized respiratory support in achieving positive long-term outcomes for children with CCHS.
• Contributes to understanding the clinical spectrum and management of congenital central hypoventilation syndrome.