The result of aganglionosis in the rectum

Abstract

Hirschsprung's disease (HD) is a congenital abnormality of the nervous system in the bowel characterized by the absence of ganglion cells from submucosal (Meissner) and myenteric (Auerbach) nerve plexus. HD is a common cause of congenital intestinal pseudo-obstruction occurring in 1 out of 5000 live births However, diagnosis is not always possible with hematoxylin and eosin (H anE) because staining has limitations in the identification of immature ganglion cells in neonates and the submucosal area. Many institutions started gaining experience with calretinin immunohistochemical (IHC) stain, as an additional diagnostic tool for (HD).10Calretinin was not expressed in aganglionic segments of HD and associated nerve fibers, whereas both ganglion cells and nerve fibers were immunopositive in ganglionic HD segments and in normal colons. Nowadays, full-thickness specimens are being replaced by suction or mucosal rectal biopsies in the diagnosis of HD. Interpretation is more difficult in these specimens. By facilitating the diagnosis, IHC staining may encourage more and more pathologists and surgeons to use suction biopsies instead of using the more invasive diagnostic technique of using full-thickness specimens. This study was done for the first time in Mongolia. Our study aimed to investigate calretinin immunostaining patterns in aganglion in the submucosa and to compare them both ganglionic in muscular layer and both submucosa, muscular layers. To determine Formalin-fixed paraffin tissue blocks of rectal biopsies for 54 patients who clinically presented with symptoms suspicious for HD were collected for the period from December 2018 to January 2020. Calretinin immunoreactivity and pattern of staining for ganglion cells (nuclear and cytoplasmic) in different layers of bowel were evaluated in IHC stained slides. Statistical analysis was performed using SPSS 25.0.A total of 54 children with rectum biopsy were investigated. HD was confirmed in 24 (44.4%) children by the calretinin marker. The median age was 18.0 (range 1 - 730) months with 79.1% boys. The sensitivity was 100% and specificity was 46.2% in the submucosa. The sensitivity was 80.0% and specificity was 66.7% in muscularis propria. The sensitivity was 91.7% and specificity was 60.0% in both submucosa, muscularis propria, diagnostic consistency was good (Kappa=0.500).