Acetylcholinesterase activity in rectal mucosa and blood in the diagnosis of Hirschsprung's disease.

Histochemical and biochemical examinations of rectal biopsy specimens were performed in 13 patients with Hirschsprung's disease and in seven with idiopathic constipation and no megacolon. Serum and erythrocyte acetylcholinesterase (AchE) activity in these two groups was compared with that in 30 normal controls. AchE staining of rectal biopsy specimens proved to be a reliable and convenient diagnostic approach in patients with Hirschsprung's disease. Biochemical assay of AchE activity in rectal biopsy specimens was also of value in the diagnosis, however, there was an overlap between Hirschsprung's disease and idiopathic constipation. Erythrocyte AchE activity correlated well with AchE activity in rectal biopsy specimens. Therefore, assays of erythrocyte AchE activity provided useful additional information, especially in screening tests for Hirschsprung's disease.