Congenital central hypoventilation syndrome and Hirschprung's disease

Abstract

Five cases of the Hirschprung'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 suggest that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprug's disease patients, and 10% of those with total colonic aganlionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCH/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.