Immunohistochemistry-based comparative study in detection of Hirschsprung’s disease in infants in a Tertiary Care Center

Abstract BACKGROUND: Hirschsprung’s disease (HD) is the major cause of pediatric intestinal obstruction with a complex pattern of inheritance. The absence of ganglion cells along with an analysis of hypertrophy and hyperplasia of nerves in the nerve plexus of submucosa and muscularis mucosae is regarded as a potential hallmark for its diagnosis. AIMS AND OBJECTIVES: This study was undertaken to ascertain the (1) clinical profile, (2) mode of presentation, and (3) to compare the role of calretinin immunostaining with acetylcholinesterase in the diagnosis of HD. MATERIALS AND METHODS: This prospective and observational study was conducted in the Department of Pathology, IPGME & R from June 2014 to May 2015. One hundred and four patients clinically and radiologically diagnosed with HD underwent surgery were included in the study. The data of every patient including age, sex, and presenting symptoms were recorded. Eventually, histopathological, calretinin, and acetylcholinesterase immunohistochemical examination were done. RESULTS: Total numbers of cases studied were 104, which aged between 0 days and 365 days. Male preponderance (76.92%) was noted. The overall sensitivity, specificity, positive, and negative predictive value of acetylcholinesterase were 100%, 86.44%, 84.91%, and 100%, respectively. The concordance of detection of ganglion cells and nerve fibers, and thereby diagnosis of Hirschsprung’s and non-HD using calretinin and the gold standard was statistically in strong agreement (κ = 0.749, 95% confidence interval: 0.635–0.863). CONCLUSIONS: Calretinin stands out as the single and indispensable tool that differentiates HD from other mimickers.