{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T20:23:06Z","timestamp":1793823786719,"version":"4.6.1"},"reference-count":97,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T00:00:00Z","timestamp":1575244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1177\/1093526619892351","type":"journal-article","created":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T23:34:39Z","timestamp":1575329679000},"page":"8-22","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":150,"title":["Diagnosis of Hirschsprung Disease"],"prefix":"10.1177","volume":"23","author":[{"given":"Lusine","family":"Ambartsumyan","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Seattle Children's Hospital and University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Seattle Children's Hospital and University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raj P","family":"Kapur","sequence":"additional","affiliation":[{"name":"Department of Pathology, Seattle Children's Hospital and University of Washington, Seattle, Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2019,12,2]]},"reference":[{"key":"bibr1-1093526619892351","first-page":"568","volume":"46","author":"Badner JA","year":"1990","journal-title":"Am J Hum Genet"},{"key":"bibr2-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.053959"},{"key":"bibr3-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-012-3117-3"},{"key":"bibr4-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1186\/s12893-018-0383-6"},{"key":"bibr5-1093526619892351","doi-asserted-by":"publisher","DOI":"10.2350\/13-10-1387-OA.1"},{"key":"bibr6-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1038\/nrgastro.2017.149"},{"key":"bibr7-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1111\/apa.13594"},{"key":"bibr8-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2017.08.043"},{"key":"bibr9-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2982.2002.00365.x"},{"key":"bibr10-1093526619892351","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1607356"},{"key":"bibr11-1093526619892351","unstructured":"Parisi MA, Kapur RP. 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