Diagnosis of Hirschsprungs disease

Hirschsprungs disease (HD) is a rare congenital disorder defined by the absence of ganglion cells (GCs) in a segment of the digestive tract. Its diagnosis in Tunisia relies solely on histopathological study with hemathein-eosin. Currently, several studies are being carried out on biomarkers of MH, notably on the anti-calretinin antibody. The aim of our work was to evaluate the diagnostic performance of the anti-calretinin antibody in the context of suspected HD. This was a retrospective study including 69 patients with MH. An immunohistochemical study with anti-calretinin antibody was performed. In MPA biopsies, CGs were labeled in 2 biopsies, while interstitial nerve fibers were labeled in 3 biopsies. The sensitivity, specificity, positive predictive value and negative predictive value of the anti-calretinin antibody were 93%, 100%, 100% and 70% respectively.The use of an immunohistochemical study with anti-calretinin antibody in the absence of GC is a reasonable alternative in view of the serious therapeutic implications of HD.