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Congenital Central Hypoventilation Syndrome (CCHS)

PHOX2B-mediated autonomic disorder of central respiratory drive presenting at birth.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Congenital Central Hypoventilation Syndrome (CCHS)?

Congenital Central Hypoventilation Syndrome (CCHS), historically called Ondine's curse, is a rare autonomic nervous system disorder caused by mutations in the PHOX2B gene. It manifests as failure of automatic control of breathing, particularly during sleep, leading to alveolar hypoventilation despite normal lung mechanics.

CCHS typically presents in the neonatal period with persistent apnea and hypoventilation during sleep, but milder phenotypes may present later. Up to 20% of patients have associated Hirschsprung disease, and there is an increased risk of neural crest tumors (neuroblastoma, ganglioneuroma). Polyalanine repeat mutations correlate with severity.

Diagnosis is genetic, confirming PHOX2B mutation, and clinical, with sleep-disordered breathing requiring ventilatory support. Management includes lifelong assisted ventilation (tracheostomy and home ventilator, non-invasive ventilation in older children, diaphragmatic pacing), multidisciplinary follow-up, and cardiac, autonomic and oncologic surveillance.

Symptoms

Apnea and hypoventilation during sleep
Cyanosis without apparent respiratory distress
Bradycardia and autonomic dysfunction
Hirschsprung-related symptoms
Decreased response to hypercapnia
Recurrent respiratory failure
Developmental delay if untreated

Risk Factors

PHOX2B polyalanine or non-polyalanine mutation
Family history of CCHS
Hirschsprung disease in neonate
Apparent life-threatening event (ALTE)
Apnea unexplained by lung pathology
Neural crest tumor history
Severe sleep disordered breathing in infancy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Persistent unexplained apnea in a newborn
  • Cyanosis during sleep
  • Hirschsprung disease with sleep apnea
  • Recurrent respiratory failure events
  • Need for multidisciplinary CCHS center

Treatment Methods

01
PHOX2B genetic testing
02
Tracheostomy and home mechanical ventilation
03
Non-invasive ventilation in older patients
04
Diaphragmatic pacing in selected cases
05
Surveillance for tumors and arrhythmias
06
Multidisciplinary CCHS center follow-up

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.