Abstract :
Aim: Hirschsprung’s disease (HD) is the congenital aganglionosis of the human colon due to disruption
of migration, imbalanced proliferation and differentiation of neural crest cell. The diagnosis and extent of
resection for the management of HD depend on the sensitive and specific identification of ganglion cells.
Negative immunohistochemical expression of calretinin, shown its superiority as diagnostic method for full
thickness as well as partial thickness rectal suction biopsies.
Materials and Methods: Total 86 colonic and rectal biopsies of 43 patients attending Sassoon hospital,
Pune (between 2015-2017) with surgically resected specimen proven Hirschsprung’s disease cases and
follow up cases of non HD cases were evaluated with both Haematoxylin and Eosin stain and calretinin
IHC.
Result: Age group was 2 days to 7 year with having Male: Female ratio 2.91:1. Out of 43 cases, 26 were
diagnosed as Hirschsprung’s Disease, 16 were not having Hirschsprung’s disease, 1 case of hypogangliosis.
13 out of 86 biopsy and 9 out of 43 cases show false positive result with use of Haematoxylin and Eosin
stain only. Specificity and negative predictive value of H&E stain was 72% and 78.12% respectively with
accuracy of 86%. Use of calretinin IHC gave 100% accuracy in all 86 biopsies studied including 17 partial
thickness biopsies.
Conclusion: Only use of Haematoxylin and Eosin stain will lead to significant false positive result leading
to misdiagnosis and in turn wrong treatment. Loss of calretinin expression in aganglionic segment help in
the interpretation of even partial biopsies and easy to interpret with improvement in diagnosis upto 100%.
Keyword :
Hirschsprung’s disease, Calretinin, Rectal biopsy.