Total colonic aganglionosis: case report, practical diagnostic approach and pitfalls.

Department of Pathology, University of Michigan, Ann Arbor, MI 48109, USA.
Archives of pathology & laboratory medicine (Impact Factor: 2.88). 10/2010; 134(10):1467-73. DOI: 10.1043/2010-0279-CR.1
Source: PubMed

ABSTRACT Hirschsprung disease remains a challenging diagnosis for many pathologists. The disease is characterized by a lack of ganglion cells in the myenteric and submucosal plexus, associated with increased numbers of acetylcholinesterase-positive nerve fibers. Hypertrophic nerve fibers are present in most but not all patients. Total colonic aganglionosis (TCA) is an uncommon form of Hirschsprung disease with clinical, histologic, and genetic differences and is even more difficult to diagnose and manage. This case illustrates some of the difficulties frequently faced by the pathologists dealing with total colonic aganglionosis. Suction rectal biopsy specimens often lack significant nerve hypertrophy and positive acetylcholinesterase staining, which aid in the diagnosis. Pathologists have to depend mainly on the lack of ganglion cells in adequate submucosa to establish the diagnosis. Transition zone is often long in total colonic aganglionosis and interpretation of frozen sections can be difficult. The presence of several uniformly distributed clusters of mature ganglion cells and lack of nerve hypertrophy are required to avoid connections at the transition zone.

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    ABSTRACT: In this study we aimed to evaluate the usability of calretinin staining in the diagnosis and exclusion of HD in 36 rectal biopsies. Through immunohistochemical examination, in of a total of 21 pediatric patients in whom ganglion cells were detected in first rectal biopsies and in re-biopsies, ganglion cells were seen through nuclear and cytoplasmic staining. In the lamina propria and superficial submucosa, staining of nerve fibers was detected in a granular pattern in varying intensities. Out of a total of 5 biopsies (including one re-biopsy) of non-HD patients, where ganglion cells couldn’t be seen, the nerve fibers were all stained. On the other hand, in 10 HD patients, diagnosed by a colon pull through operation, calretinin staining wasn’t detected in any area of the rectal biopsies except for the mast cells. We conclude that calretinin immunostaining for the diagnosis of HD is an easy and reliable method for use in daily practice.
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