Reliability of the acetylcholinesterase (ACE) reaction in rectal mucosal biopsies for the diagnosis of Hirschsprung's disease.
The ACE reaction in superficial rectal biopsies is a valuable diagnostic procedure for Hirschsprung's disease. Although the literature mentions a reliability as high as 100 percent accuracy, a false negative ACE reaction can occur. So the result of the histochemical examination can never be seen apart from the clinical picture. This paper deals with false-negative ACE reactions in 3 children. A false-negative ACE reaction is suggested to be caused by a developmental disturbance in the 6th or 7th embryonal week. Since this disturbance can be responsible also for an aganglionosis of the total colon and a part of the ileum, the chance of a false negative ACE reaction is postulated to be increased in an extensive aganglionosis in precisely those cases which are already a diagnostic challenge for the clinician.
D000110:Acetylcholinesterase / Q000032:analysis*; D001706:Biopsy; D005188:False Negative Reactions; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000201:enzymology*; D008297:Male; D008531:Megacolon / Q000175:diagnosis* / Q000473:pathology; D012007:Rectum / Q000201:enzymology* / Q000473:pathology; D012189:Retrospective Studies
D000110:Acetylcholinesterase