CONGENITAL CENTRAL HYPOVENTILATION SYNDROME AND HIRSCHSPRUNGS-DISEASE

Five cases of the Hirschsprung's disease-congenital central hypoventil ation 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 dis ease severity which suggests that the condition is genetically distinc t from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colon ic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patien ts will also have neuroblastoma or ganglioneuroma, usually multiple. A bnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of lif e. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel.