Acetylcholinesterase-stained suction rectal biopsies in the diagnosis of Hirschsprung's disease. 1990

D E Schofield, and W Devine, and E J Yunis
Department of Pathology, Children's Hospital of Pittsburgh, Pennsylvania.

Conflicting reports in the literature regarding the sensitivity and specificity of the acetylcholinesterase (AChE) stain in establishing or excluding the diagnosis of Hirschsprung's disease (HD) prompted this review of 497 rectal biopsies performed on 455 children. Using hematoxylin and eosin (H&E) to stain formalin-fixed, paraffin-embedded tissue sections is our preferred method of identifying ganglion cells. In this series, however, there were eight children with HD, and nine without HD in whom the AChE-stained portion of the sample provided invaluable diagnostic information not obtained from the concomitant, formalin-fixed, H&E-stained portion of the sample. The AChE stain also provided at least suggestive evidence of HD in some of the anal or anorectal biopsy specimens.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D012007 Rectum The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL. Rectums
D005260 Female Females
D006627 Hirschsprung Disease Congenital MEGACOLON resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the LARGE INTESTINE. The aganglionic segment is permanently contracted thus causing dilatation proximal to it. In most cases, the aganglionic segment is within the RECTUM and SIGMOID COLON. Aganglionosis, Colonic,Colonic Aganglionosis,Megacolon, Congenital,Aganglionic Megacolon,Aganglionosis, Rectosigmoid Colon,Aganglionosis, Total Colonic,Congenital Intestinal Aganglionosis,Congenital Megacolon,Hirschsprung's Disease,Megacolon, Aganglionic,Rectosigmoid Aganglionosis,Total Colonic Aganglionosis,Aganglionosis, Rectosigmoid,Disease, Hirschsprung,Disease, Hirschsprung's,Hirschsprungs Disease,Rectosigmoid Colon Aganglionosis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000110 Acetylcholinesterase An enzyme that catalyzes the hydrolysis of ACETYLCHOLINE to CHOLINE and acetate. In the CNS, this enzyme plays a role in the function of peripheral neuromuscular junctions. EC 3.1.1.7. Acetylcholine Hydrolase,Acetylthiocholinesterase,Hydrolase, Acetylcholine
D001706 Biopsy Removal and pathologic examination of specimens from the living body. Biopsies
D013194 Staining and Labeling The marking of biological material with a dye or other reagent for the purpose of identifying and quantitating components of tissues, cells or their extracts. Histological Labeling,Staining,Histological Labelings,Labeling and Staining,Labeling, Histological,Labelings, Histological,Stainings

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