Arch Dis Child 1998;78:316-322 ( April )

Congenital central hypoventilation syndrome and Hirschsprung's disease

G D H Croaker,^a E Shi,^b E Simpson,^c T Cartmill,^a D T Cass^a

^a Royal Alexanda Hospital for Children, Sydney, Australia, ^b Sydney Children's Hospital, Sydney, Australia, ^c Woden Valley Hospital, Canberra, Australia

Correspondence to: Dr G D H Croaker, Department of Surgical Research, Royal Alexandra Hospital for Children, Westmead, NSW 2145, Australia.

Accepted 2 December 1997

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.

Keywords: Hirschsprung's disease; congenital central hypoventilation syndrome; total colonic aganglionosis; neurocristopathy

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© 1998 by Archives of Disease in Childhood
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