Long-term outcome of patients with enterocolitis complicating Hirschsprung’s disease

Abstract

Enterocolitis remains the most serious complication of Hirschsprung's disease (HD). The purpose of this study was to evaluate the risk factors in the development of enterocolitis and the long-term outcome in these patients. The hospital records of 259 consecutive patients with HD during 1975-2003 were examined. The data was analysed for age at presentation, associated anomalies, level of aganglionosis, clinical features, number of episodes of enterocolitis, type of pullthrough, necessity for post-pullthrough sphincterectomy. Follow up was carried out by personal interviews and interviews over the telephone with patients/parents. Enterocolitis was diagnosed on the basis of clinical features of diarrhoea, pyrexia, abdominal distention and vomiting. Of the 259 patients with HD, 74 patients (28.5%) were found to have enterocolitis. Out of 39 patients with Down's syndrome and HD, 19 (48%) had enterocolitis. Fifteen (20%) patients had other associated anomalies. Fifty-six patients (75.6%) were male and 18 (24.3%) were female. In 30 patients enterocolitis was the presenting feature in the neonatal period, 22 of which presented in the first 2 weeks of life. Fifty-six patients (75.6%) had rectosigmoid disease and 18 (24.3%) had long segment disease or total colonic aganglionosis. Eighteen (24.3%) had only preoperative enterocolitis and 31(41.8%) had only postoperative enterocolitis. Twenty-five (33.7%) had both pre- and post-operative enterocolitis. Twenty (27%) patients had more than 2 episodes of enterocolitis. Various pullthrough procedures were performed. Twenty-six patients (35.1%) required internal sphinctermyectomy to treat the enterocolitis. At the time of follow-up, 16 patients were lost to follow-up. Of the remaining 58 patients, 3 patients died, 2 due to enterocolitis and 1 due to sepsis. Six patients remained with a stoma. Twenty-two patients were continent and were stooling normally, but 14 of these were on laxatives for several years after pullthrough procedure. The mean age at achieving full continence was 4.95 years in the 22 patients with normal bowel function. Nineteen patients are still on laxatives and 8 patients are soiling. Eight patients continue to have multiple recurrent episodes of enterocolitis at follow-up. Down's syndrome is an important risk factor in the development of enterocolitis. The majority of patients with enterocolitis complicating HD continue to have disturbances of bowel function many years after surgery for HD.

Autonomic neurocristopathy-associated mutations in PHOX2B dysregulate Sox10 expression

“…Some HSCR patients, however, exhibit intestinal problems even after surgery, and defects in the ganglionized gut regions are suspected in those cases (37). NPARM PHOX2B mutant mice exhibited paucity in neuronal differentiation and low ENCC density in the ganglionized gut.…”

Neural Precursor Death Is Central to the Pathogenesis of Intestinal Aganglionosis inRetHypomorphic Mice

“…The current major treatment for HSCR is surgical resection of the aganglionic segment of the gut. After surgery for HSCR, some patients continue to suffer from fecal incontinence (Menezes and Puri, 2006). It is unclear whether postoperative morbidity is related to the surgery or to potentially abnormal function of the residual ENS.…”

Clinical Cases of Crohn‘s Disease in Pediatric Hirschprung‘s Patients

“…Diagnosis was delayed due to poor gain of weight since birth and loose stools as postoperative Hirschsprung's disease outcome. According to literature up to 40% of patients develop Hirschsprung's-associated enterocolitis [8]. This pathology may mimic Crohn's disease symptoms and delay the diagnosis.…”