Abstract
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.
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.