Congenital central hypoventilation syndrome (CCHS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Congenital central hypoventilation syndrome (CCHS): clinical features. The onset is usually in infancy. Fully referenced neurology checklist.
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
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Cardiac autonomic dysfunction
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Other autonomic features
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Other reported features
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Associated syndromes
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Differential diagnosis
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Synonym
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References
- 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.
- 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.
- Rojnueangnit K, Descartes M. Congenital central hypoventilation syndrome mimicking mitochondrial disease. Clin Case Rep 2018; 6:465-468.
- 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.
- 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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