Long-term Clinical Outcome in Patients with Hirschsprung's Disease and Associated Down's Syndrome

Background/purpose: Down's syndrome (DS) is the most common chromosomal abnormality associated with Hirschsprung's disease (HD). The purpose of this study was to review the long-term clinical outcome in patients with HD and associated DS.

Methods: Between 1975 and 2003, 39 (15%) of the 259 patients with HD had been associated with DS. Follow-up was carried out by means of examination of patient's records and personal/telephone interviews with the patient's parents or guardians.

Results: Twenty-six (67%) patients presented in the newborn period and 13 (33%) after the neonatal period. Twenty-eight (72%) patients had rectosigmoid HD, 10 long segment, and 1 total colonic aganglionosis. Thirty-two patients had other associated anomalies, 24 of these having cardiac anomalies. Definitive pull-through operation was performed in 33 patients. Parents of 1 child refused surgical intervention and parents of 2 children decided against pull-through operation after colostomy. Three children died before pull through. Thirteen patients had one or more episodes of enterocolitis after pull-through operation. At the time of follow-up (6 months to 28 years), 3 patients were found to have reverted to stoma because of poor bowel control or recurrent enterocolitis. Of the remaining 30 patients, 3 were lost to follow-up and 4 were too young to be assessed for bowel control. Assessment of bowel function in 23 patients revealed normal control in 8 (4 of these soiled for 6-17 years after definitive surgery), soiling in 8, and constipation requiring enemas or laxatives in 7.

Conclusions: The vast majority of patients with HD associated with DS continue to have disturbances of bowel function after definitive pull-through operation.