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Congenital central hypoventilation syndrome and Hirschsprung's disease
G D Croaker1, E Shi, E Simpson
1Royal Alexandra Hospital for Children, Sydney, Australia.
Insights
The Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association presents a distinct genetic condition. This association frequently involves severe Hirschsprung's disease and other congenital anomalies.
Area of Science:
- Genetics
- Pediatric Medicine
- Gastroenterology
Background:
- Hirschsprung's disease (HSCR) and congenital central hypoventilation syndrome (CCHS) are distinct conditions.
- The co-occurrence of HSCR and CCHS suggests a potential shared genetic basis or association.
Purpose of the Study:
- To characterize the clinical features and genetic implications of the HSCR-CCHS association.
- To review existing literature and present new cases of this specific comorbidity.
Main Methods:
- Case series presentation of five patients with HSCR-CCHS.
- Comprehensive literature review of 41 previously published cases.
Main Results:
- The HSCR-CCHS association exhibits a unique pattern of features, equal sex incidence, and disease severity, suggesting a distinct genetic entity.
- While 1.5% of HSCR patients have CCHS, up to 50% of CCHS patients have HSCR.
- Associated conditions include neuroblastoma (20%), ocular abnormalities, and autonomic nervous system dysfunction. Ventilatory issues are present from birth, and 59% have small bowel aganglionosis.
Conclusions:
- The HSCR-CCHS association is a genetically distinct condition requiring specific diagnostic and management considerations.
- Early identification of ventilatory abnormalities and HSCR is crucial for affected infants.
- The high comorbidity with neuroblastoma underscores the need for vigilant monitoring.
Abstract:
Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.