الفهرس 
Validating a proposed scoring system for differentiation between hirschsprung’s disease patients and idiopathic constipation patients
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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.