الفهرس | Only 14 pages are availabe for public view |
Abstract Introduction: Hirschsprung’s disease (HD), also known as “congenital aganglionic megacolon,” is characterized by the absence of ganglion cells in the myenteric and sub mucosal plexuses of the intestine. HD occurs in approximately 1 in 5000 live births. Hirschsprung’s disease (HD) should be considered in children with neonatal-onset constipation. Clinical differentiation between HD and idiopathic constipation (IC) is difficult in late-presenting infants. Consequently, pediatric surgical centers receive numerous referrals for rectal biopsies, requiring admissions and general anaesthesia. It has been reported that 90% of HD patients could be diagnosed before the age of one month, and if not during the neonatal period, mostly by the age of one year. There have been some attempts at studying the sensitivity and specificity of the various clinical data and noninvasive investigations aiming at reducing the performance of unnecessary rectal biopsies. In previous research published by our center, we generated a scoring system of 6 clinical and 3 radiological criteria, to differentiate HD from IC, including clinically (1) neonatal onset; (2) male sex; (3) congenital anomalies, dysmorphic features and/or family history of HD; (4) delayed meconium passage; (5) entercolitis or significant bowel obstruction/impaction; (6) tight segment on rectal examination; and radiologically (7) funneled transition zone or a reversed rectosigmoid index (<1); (8) delayed evacuation of contrast after 24 h; and (9) absent distension of the anorectum with contrast, absent mucosal irregularities, and absent sigmoid looping. Objectives: To validate a scoring system aiming to differentiate between HD patients and IC patients based on a combined clinical and radiological scoring to minimize the need for rectal biopsy to exclude HD. Methodology To measure the validity of a proposed scoring system, by applying it retrospectively to cohort of patients who had rectal biopsy (at least 30 patients, within the previous 6 months), and applying it prospectively to cases presenting with significant constipation, where rectal biopsy may be considered (prospectively, all cases presenting to the pediatric colorectal clinic, over a period of 3 months).The Following data will be collected: Patient demographic content: such as gender, consanguinity, family history, and associated other congenital anomalies. Preoperative investigation: erect x-ray, contrast enema to detect transition zone. Operative technique: full thickness rectal biopsy, for histopathological examination for presence of ganglion cells at sub-mucosal tissue. Postoperative follow up: checking the positive results among all patients were candidate for rectal biopsy, calculate the positive predictive value. |