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Abstract
Varying results have been reported with the use of acetylcholinesterase (AchE) staining to diagnose Hirschsprung's disease in rectal suction biopsy. We analyzed the histology and AchE staining of rectal biopsies from 10 patients with documented intestinal aganglionosis and 57 patients with ganglionic bowel. The results show that histologic identification of submucosal ganglion cells is reliable in excluding Hirschsprung's disease and that the absence of ganglion cells in an adequate suction biopsy is highly suggestive of intestinal aganglionosis. Four AchE staining patterns were recognized; the staining patterns overlap in some patients who have and some who lack ganglion cells. The AchE staining pattern did not correlate with sex or age of the patients, or with the length of the aganglionic segment. The acetylcholinesterase stain is not a reliable method of making or excluding a diagnosis of intestinal aganglionosis except when AchE-positive fibers are increased in both the lamina propria and muscularis mucosae. This AchE staining pattern occurred in 6 of our 10 patients with Hirschsprung's disease.
In addition, eight segments of aganglionic colon were studied that included 2 cases of total colonic aganglionosis in which hypertrophic, AchE-positive nerve fibers were absent in all layers of bowel wall. This last finding suggests that an abnormality in the preganglionic cholinergic fiber or extrinsic neuron is involved in the pathogenesis of this unusual form of total colonic aganglionosis.