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Diagnosis of Hirschsprung Disease.
- Source :
-
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2020 Jan-Feb; Vol. 23 (1), pp. 8-22. Date of Electronic Publication: 2019 Dec 02. - Publication Year :
- 2020
-
Abstract
- Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.
- Subjects :
- Adolescent
Biomarkers analysis
Biopsy
Child
Child, Preschool
Colon chemistry
Colon pathology
Hirschsprung Disease metabolism
Hirschsprung Disease pathology
Humans
Immunohistochemistry
Infant
Infant, Newborn
Predictive Value of Tests
Rectum chemistry
Rectum pathology
Staining and Labeling
Colon abnormalities
Diagnostic Techniques, Digestive System
Hirschsprung Disease diagnosis
Rectum abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1615-5742
- Volume :
- 23
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
- Publication Type :
- Academic Journal
- Accession number :
- 31791203
- Full Text :
- https://doi.org/10.1177/1093526619892351