Role of Immunohistochemistry in the Diagnosis of Hirschsprung Disease

Introduction:Hirschsprung disease is a congenital disorder characterized by theabsence of ganglion cells in the submucosal or myenteric neural plexus. Diagnosisrequires clinical, radiological, and histopathological correlations. Commonclinical presentations include delayed meconium passage, abdominal fullness,and constipation. However,identification of immature or dysplastic ganglion cells can be challenging. Insuch cases, immunohistochemistry stains, such as Calretinin and BCL2, can beuseful. The objective of the study is to determine the demographic profile ofHirschsprung disease and to evaluate the role of immunohistochemistry for thediagnosis of Hirschsprung disease. Methods: This is an analytical and cross-sectional study conducted from 3rdFebruary 2022, to 2nd February 2023. Total 65 specimens were received with theclinical suspicion of Hirschsprung disease, out of which 60 cases were includedin the study and five cases were excluded from the study due to absence ofmuscularis propria layer. Age, sex and clinical presentation of the patientswere recorded. Immunohistochemistry stain with Calretinin and BCL2 wereperformed and compared with routine H&E stained sections. Results: Total 60 cases were included in the study, out of which 37 cases (62%)were diagnosed as Hirschsprung disease and 23 cases (38%) were diagnosedas Non Hirschsprung disease on the basis of routine H&E stained sections.Hirschsprung disease was found to be more common in males (n=30, 81%) ascompared to female (n=7, 19%). However,when both IHC stain were combine, the sensitivity and negative predictivevalue improved to 100%, where as specificity and positive predictive valuewere found to be 81% and 66% respectively. Conclusions: Immunohistochemistry stain is an important adjunct to routine H&Estain in identification of ganglion cells and diagnosis of Hirschsprung disease.Use of combined IHC not only correctly demonstrates the ganglion cells, butalso helps in detecting ganglion cells which were previously not identified byroutine H&E.