Histochemical acetylcholinesterase reactions in total colonic aganglionosis

Reliability of the histochemical diagnosis in total colonic aganglionosis is controversial. We studied histochemical acetylcholinesterase (AChE) reactions in three children with total colonic aganglionosis. In all three, there was an increase in AChE positive nerve fibers in the rectal mucosa, obtained when the patients were over the neonatal period. However, a proximal extension of the increase in AChE positive nerve fibers was noted in the distal end of the resected bowel obtained at the definitive operation in two cases out of three. In one, there was no proximal extension in the resected bowel, and in another, there was an increase in AChE positive nerve fibers in the mucosa of the ganglionic ileum. Our findings indicate that the histochemical study of AChE activity in rectal suction biopsy is useful, even in cases of total colonic aganglionosis.