Hirschsprung's Disease in Neonates with Special Reference to Calretinin Immunohistochemistry

Hirschsprung's disease is a classic example of a complex genetic disease, characterized by the lack of enteric ganglia in the submucosal and myenteric plexuses, along variable portions of the distal gut. The diagnosis of Hirschsprung's disease is based on a combination of clinical features, radiological appearance of the bowel and histological features in Haematoxylin & Eosin stained sections of intestinal biopsies. Calretinin Immunohistochemistry is emerging to be one of the newer methods.

This study was undertaken to ascertain 1) clinical profile; 2) mode of presentation; 3) to evaluate the role of Calretinin immunostain in the diagnosis of Hirschsprung's Disease.

This prospective and observational study was conducted in the Department of Pathology IPGME&R from July 2013 to September 2014. Eighty nine patients, clinically and radiologically diagnosed with Hirschsprung's disease underwent surgery and were included in the study. The data of every patient including age, sex and presenting symptoms were recorded. Eventually, histopathological examination & immunohistochemistry were done.

Total number of cases studied was 89 which aged between 0 days to 28 days. Overall sensitivity in our study to diagnose presence or absence of ganglion cells by calretinin immunohistochemistry was 100% and the specificity is 97.44% with positive and negative predictive value of 84.62 % and 100 % respectively.

Calretinin immunohistochemistry holds several advantages, and it's simple and not doubtful; and it is either positive or negative.