Anorectal Malformations: Histomorphological and Immunohistochemical Evaluation of Neuronal Dysfunction

Abstract

Objective :The patients with anorectal malformations (ARM) have been identified with specific and non-specific pathological changes. The present study was conducted with the aim to study histomorphological changes and various immunohistochemical (IHC) markers (calretinin, S-100, CD117) in intestinal wall specimens to assess neuronal dysfunction in ARM patients.Material and methods :Thirty children having ARM were included in our study. In all the cases, a representative biopsy was received. The tissue sections were processed and wax blocks were prepared. Various histopathological changes were examined on routine H&E. Representative sections were further subjected to IHC staining for ganglion cells (calretinin), interstitial cells of Cajal (CD117) and nerve bundles (S-100 protein). Descriptive variables were analyzed to assess neuronal dysfunction in cases of ARM. Chi-square was used to compare the categorical values. P-value <0.05 was accepted as statistically significant.Results :Biopsies were studied for histological changes using H&E stain. The most frequently observed histological finding in mucosa was inflammation and congestion in 87% and 67% of cases respectively. Disrupted muscularis mucosa was observed in 60%, eroded mucosa in 57%, and hemorrhage in 40% of cases. Submucosal inflammation and congestion were most common finding observed in submucosa in 87% and 80% cases respectively. CD117 was used to demonstrate altered density and distribution of interstitial cells of Cajal (ICC) in cases of ARM. Majority of them belong to grade 2+ category (n=17, 57%) followed by grade 1+ (n=8, 17%) for ICC cells. Altered density and distribution of ICC was observed in ARM which was statistically significant (p=0.02).Conclusion :The malformed segments in ARM show various specific and non-specific histomorphological changes. Examination of H&E sections along with IHC stains evaluation can minimize need for repeated biopsies and unnecessary radical treatment. CD117 immunohistochemistry is reliable adjunctive test in evaluation of ICC in motility disorders of bowel. Calretinin is good marker for identification of ganglion cells. In ARM, density and distribution of ICCs is significantly altered which can explain postoperative dysmotility.

The distal resection of the rectal pouch in laparoscopic-assisted anorectoplasty for high-and intermediate anorectal malformation: 153 cases’ experience in a single center

“…However, the brosis of the rectal pouch in ARM is also common and easily overlooked. The subepithelial brosis was found in 71% of the cases from the research of Pandey et al and in 90% from Gangopadhyay et al [9,29]. In accordance with the report form Lombardi et al, our previous research also found the brosis of muscularis propria of the distal rectum from 52 patients with ARM [7,8,10].…”

Histopathologic and immunohistochemical findings in congenital anorectal malformations

“…Bhatia et al [ 26 ] reported that the distal rectal pouch in ARM show various specific and nonspecific histomorphologic changes, and the postoperative dysmotility can be attributed to the significantly alteration in density and distribution of ICCs. In addition, several studies also reported that the density and distribution of ganglia gradually decreased distally along the rectum, consistent with reports by others.…”

Effect of megarectum on postoperative defecation of female patients with congenital rectovestibular fistula or rectoperineal fistula

“…Our clinical results indicated that megarectum might be an important cause of postoperative constipation in patients with congenital rectovestibular fistula or perineal fistula. Bhatia et al ( 17 ) reported that the rectal Cajal interstitial cells and ganglion cells were reduced in children with AMR, and the content of calretinin was also reduced ( Figure 2 ). Mandhan et al ( 18 ) found that the decreased expression of neuron-specific enolase, vasoactive intestinal peptide and substance P in the rectum of AMR fetal rats may lead to rectal motility disturbance and become the pathological basis of constipation.…”