Histopathological diagnosis and differential diagnosis of hirschsprung's disease

Abstract

It has been well known since the reports of Dalla-Valle [6, 7] that the most characteristic feature of Hirschsprung's disease (HD) is the absence of ganglion cells in the narrowed segment. The aganglionic segment starts at the anal ring and extends proximally for a variable length. A reliable diagnosis of HD on a hematoxylin-eosin (H&E) staining of a mucosal biopsy requires considerable experience. There is the risk of rendering a false-positive diagnosis of HD in cases of hypoganglionosis. A diagnosis of an ultrashort Hirschsprung segment of less than 3-4 cm in length above the anal ring cannot be established by an H&E staining or immunohistochemical reaction. In contrast to immunohistochemistry or H&E staining, the introduction of the enzyme histochemical acetylcholinesterase reaction (AChE) has made the morphological diagnosis of HD easier and more reliable [12, 19, 20, 31]. © 2008 Springer-Verlag.