Study of acetylcholinesterase activity in rectal suction biopsy for diagnosis of intestinal dysganglionoses: 17-year experience of a single center

Abstract

Although the utility of the acetylcholinesterase (AChE) histochemistry on rectal suction biopsy in diagnosing Hirschsprung's disease (HD) has been documented, few reports address a great number of biopsies and patients. Our aim is to present a 17-year experience on the method of rectal suction biopsy and AChE histochemical staining for diagnosis of intestinal dysganglionoses. Between August 1989 and July 2006, 297 children suspected of having HD were submitted to rectal suction biopsies that were evaluated by the same two surgeons. There were 18 complications (6.0%), namely one self-limited rectal bleeding and 17 (5.7%) inadequate procedures that were repeated. A total of 157 patients (52.8%) showed no increased AChE activity and the remaining patients (140-47.2.0%) presented patterns of increased AChE activity confirming the diagnosis of HD or neuronal intestinal dysplasia. Among the 140 cases suspected as having HD, in 131 children the diagnosis of HD was confirmed and they were operated on. The histological studies showed that 111 children presented the classic form of HD or a long spastic segment. Sixteen children presented total colonic aganglionosis and four children proved to have intestinal neuronal dysplasia, according to histological and radiological criteria. Nine (6.6%) newborns were identified as false-positives and no false-negative results were verified. The rectal suction biopsy combined with AChE staining is advantageous for the differentiation between normal bowel and intestinal dysganglionoses. The rectal suction method is simple and can easily be performed by experienced surgeons. The histological evaluation is very objective and can be performed by a non-pathologist.

Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease

“…In a recent study, children suspected of having HD were submitted to rectal suction and there were inadequate procedures leading to repeated biopsies in 6% of patients. 21 Nerve cell bodies in both submucosa and myenteric ganglia of guinea pig 22,23 and in the human gastrointestinal tract are immunopositive for calretinin, a calcium-binding protein. 24 Recently, it has been suggested that calretinin might be more accurate than acetylcholinesterase in detecting aganglionosis 18 in a small series of rectal biopsy.…”

Transanal endorectal pull-through in children with Hirschsprung's disease—technical refinements and comparison of results with the Duhamel procedure

“…The diagnoses were confirmed by rectal suction biopsy to reveal the presence of cholinergic acetylcholinesterasepositive nerve fibers [12]. The patients having a too long aganglionic segment or total colonic aganglionosis were excluded from the study.…”

Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease

“…Acetylcholinesterase histochemical staining is the most commonly applied ancillary method and was reported to have excellent sensitivity and specificity for the diagnosis of HD [2]. However, this method requires frozen specimens, and its interpretation can be difficult for inexperienced pathologists [3].…”