Management of Hirschsprung's disease in children with trisomy 21.

Thirteen infants and children with trisomy 21 have been treated for Hirschsprung's disease since 1975. Clinical presentation of Hirschsprung's disease included constipation (five); neonatal intestinal obstruction (four); enterocolitis (three); and meconium plug syndrome (one). Additional associated congenital anomalies occurred in 10 patients, of which complex cardiac disease accounted for 25% of the defects. Seven children underwent definitive operation: Duhamel pull-through (four); Soave pull-through (two); and anal myectomy (one). Satisfactory continence occurred in all but one child. Enterocolitis developed in seven patients (54%): two at diagnosis of Hirschsprung's disease; three after colostomy; and two after pull-through. Five children died (38%): one from enterocolitis, two from cardiorespiratory failure after recovery from enterocolitis, and two from end-stage cardiac disease. Children with trisomy 21 can safely undergo definitive operation for Hirschsprung's disease but are at high risk for developing enterocolitis and complications of associated cardiac disease.