|Home | About | Journals | Submit | Contact Us | Français|
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.