TY - JOUR T1 - Congenital central hypoventilation syndrome and Hirschsprung’s disease JF - Archives of Disease in Childhood JO - Arch Dis Child SP - 316 LP - 322 DO - 10.1136/adc.78.4.316 VL - 78 IS - 4 AU - G D H Croaker AU - E Shi AU - E Simpson AU - T Cartmill AU - D T Cass Y1 - 1998/04/01 UR - http://adc.bmj.com/content/78/4/316.abstract N2 - 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. ER -