Histochemical Diagnosis of Hirschsprung Disease

Abstract

A histochemical staining technique for detection of acetylcholinesterase (AChE) in rectal suction biopsies was compared with the presence or absence of ganglion cells in full-thickness or suction biopsies for the diagnosis of Hirschsprung disease (HD) in infants and children. Biopsies from 55 of 58 children were adequate for both the AChE assay and routine pathologic examination for ganglion cells. Two patterns of AChE staining were noted. With pattern A, prominent nerve fibers staining for AChE were seen throughout the muscularis mucosa and the lamina propria. With pattern B, similar fibers were seen only in the muscularis mucosa and the areas of lamina propria that were immediately adjacent. No "false-negative" AChE staining reactions were found in patients with HD. No "false-positive" reactions showing pattern A were found. This pattern was diagnostic for HD. Three false-positive reactions were found showing pattern B in patients with conditions other than HD. Among 22 patients with HD, 19 were males and three were females. Pattern A occurred in all age groups and in both sexes. Pattern B in patients with HD was seen exclusively in male infants 1 month of age or less. Experience suggests that the AChE staining of rectal suction biopsies is an excellent screening test for HD in infants and children. If pattern B is encountered, however, the specimen should be examined by routine pathologic techniques for the presence of submucosal ganglion cells.

Laboratory Procedures Update on Hirschsprung Disease

“…In fact, it has been suggested that false‐negative results commonly occur in neonates because AChE‐positive fibers proliferate into the lamina propria within the first few weeks of life (32). The nature of the false‐negative results seen in people with total colonic aganglionosis is unclear, but an explanation may be found on embryologic grounds (33,34). When compared with nerve growth factor receptor staining, the specificities and sensitivities were found to be similar to those of AChE (35).…”

Diagnostic Tests in Hirschsprung Disease

“…False-positive results in RSB are rare. Only 3 studies showed patients with false-positive test results (28,14,32). The reason for this is unclear.…”

Anorectal Manometry for the Exclusion of Hirschsprung's Disease in Neonates

“…Informed consent was obtained from the parents of the neonates after the nature of the procedure had been fully explained. anal crypts using the Quinton multipurpose biopsy tube (Quinton Instrument Co., Seattle, WA) (6). No anesthesia or preparation of the patient was done.…”