Congenital central hypoventilation syndrome (CCHS): clinical features

Evidence-based neurology checklist on congenital central hypoventilation syndrome (cchs): clinical features: Onset features The onset is usually in infancy Late-onset cases (LO-CCHS) have been reported The onset may be triggered by general anaesthesia or chest infection Respiratory features…

Onset features

  • The onset is usually in infancy
  • Late-onset cases (LO-CCHS) have been reported
  • The onset may be triggered by general anaesthesia or chest infection

Respiratory features

Cardiac autonomic dysfunction

Other autonomic features

Other reported features

Associated syndromes

Differential diagnosis

Synonym

References

  1. Sandoval RL, Zaconeta CM, Margotto PR, et al. Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review. Rev Paul Pediatr 2016; 34:374-378. 
  2. Zaidi S, Gandhi J, Vatsia S, Smith NL, Khan SA. Congenital central hypoventilation syndrome: an overview of etiopathogenesis, associated pathologies, clinical presentation, and management. Auton Neurosci 2018; 210:1-9. 
  3. Rojnueangnit K, Descartes M. Congenital central hypoventilation syndrome mimicking mitochondrial disease. Clin Case Rep 2018; 6:465-468. 
  4. Magalhães J, Madureira N, Medeiros R, et al. Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation. Sleep Breath 2015; 19:55-60. 
  5. Trang H, Brunet JF, Rohrer H, et al; European Central Hypoventilation Syndrome Consortium. Proceedings of the fourth international conference on central hypoventilation. Orphanet J Rare Dis 2014; 9:194.
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