The aim of this study was to review our experience in applying acetylcholinesterase histochemistry for diagnosing colonic dysganglionoses in children.
Patients and methods: We analyzed acetylcholinesterase histochemistry results of rectal biopsy specimens obtained from 85 children. The indications for biopsy were suspicion of Hirschsprung's disease in neonates and infants (Group 1; n=21) and older children (Group 2; n=17); megarectum (Group 3; n=44); and colostomy (Group 4; n=3). Specimens were taken at 5 and 10 cm using endoscopic forceps or excised with scissors at 2.5 cm above the dentate line. Acetylcholinesterase activity was evaluated using Karnovsky-Roots method.
Results: The diagnosis of Hirschsprung's disease was confirmed in 17 children of the first group and in 3 of the second group. In the third group, 2 children were diagnosed with ultrashort-segment Hirschsprung's disease and 3 children with intestinal neuronal dysplasia. In one case, acetylcholinesterase reaction was false positive. Hirschsprung's disease was diagnosed in 2 children with colostomies; in one case acetylcholinesterase activity caused false-positive results. Colonic dysganglionoses were diagnosed in 78% of infants and in 14% of children over 1 year of age. The diagnostic specificity of acetylcholinesterase in Hirschsprung's disease was 92%.
Conclusions: 1) The analysis of acetylcholinesterase activity in children's rectal biopsy specimens is a reliable method for diagnosing Hirschsprung's disease, especially in infants; 2) This method of examination is irreplaceable in diagnosing ultrashort-segment Hirschsprung's disease and remains the only method to confirm the diagnosis of this disease; 3) Acetylcholinesterase histochemistry is not sufficiently informative in diagnosing intestinal neuronal dysplasia type B, because authors applying other neurohistochemical investigation methods have reported higher incidence of this disease.