{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T23:54:24Z","timestamp":1787961264241,"version":"build-2784847793"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,4,5]]},"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:p>Hirschsprung\u2019s disease (HD) is one of the most well-known gastrointestinal motility disorders. Diagnosis and management of other lesser-known motility disorders are often challenging and tedious. We describe a teenager who was severely constipated from birth and needed intensive care admissions for life-threatening enterocolitis. She also had concomitant anal stenosis. Several rectal biopsies were unable to yield a conclusive diagnosis. Surgical level of resection had to be identified based on the motility of the bowel as determined by transit studies using oral ingestion of a milk feed labelled with Technetium-99m colloid. After completion of all operative stages, histopathological examination of the excised specimens concluded that she had short-segment HD associated with reduced interstitial cells of Cajal in the large bowel. She is currently continent, evacuating voluntarily approximately four times a day and is relieved of all her symptoms.<\/jats:p>","DOI":"10.1136\/bcr-2022-252484","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T11:40:25Z","timestamp":1682422825000},"page":"e252484","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Diagnostic dilemma and challenges in management: Hirschsprung\u2019s disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7183-5791","authenticated-orcid":false,"given":"Esther Ern Hwei","family":"Chan","sequence":"first","affiliation":[{"name":"Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khurshid","family":"Merchant","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohd Yusran","family":"Othman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, Hospital Tunku Azizah (Kuala Lumpur Women's and Children's Hospital), Kuala Lumpur, Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narasimhan Kannan","family":"Laksmi","sequence":"additional","affiliation":[{"name":"Department of Paediatric Surgery, KK Women's and Children's Hospital, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,4,25]]},"reference":[{"key":"2025082708203731000_16.4.e252484.1","doi-asserted-by":"crossref","first-page":"2204","DOI":"10.1016\/j.jpedsurg.2011.07.007","article-title":"Knowledge of ancient hindu surgeons on Hirschsprung disease: evidence from sushruta samhita of circa 1200-600 bc","volume":"46","author":"Raveenthiran","year":"2011","journal-title":"J Pediatr Surg"},{"key":"2025082708203731000_16.4.e252484.2","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1111\/j.1582-4934.2008.00352.x","article-title":"Roles of interstitial cells of cajal in regulating gastrointestinal motility: in vitro versus in vivo studies","volume":"12","author":"Yin","year":"2008","journal-title":"J Cell Mol Med"},{"key":"2025082708203731000_16.4.e252484.3","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2009.200444"},{"key":"2025082708203731000_16.4.e252484.4","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2009.02.048"},{"key":"2025082708203731000_16.4.e252484.5","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/S1055-8586(98)70016-2","article-title":"Hypoganglionosis","volume":"7","author":"Sch\u00e4rli","year":"1998","journal-title":"Semin Pediatr Surg"},{"key":"2025082708203731000_16.4.e252484.6","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0086100","article-title":"Characterization of interstitial Cajal progenitors cells and their changes in Hirschsprung\u2019s disease","volume":"9","author":"Chen","year":"2014","journal-title":"PLoS ONE"},{"key":"2025082708203731000_16.4.e252484.7","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.rpped.2015.12.008","article-title":"Doen\u00e7a de Hirschsprung \u2013 dismotilidade intestinal p\u00f3s\u2010cir\u00fargica","volume":"34","author":"Neves Romaneli","year":"2016","journal-title":"Revista Paulista de Pediatria"},{"key":"2025082708203731000_16.4.e252484.8","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318173293b"},{"key":"2025082708203731000_16.4.e252484.9","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2009.01.015"},{"key":"2025082708203731000_16.4.e252484.10","doi-asserted-by":"publisher","DOI":"10.1055\/s-2005-837612"},{"key":"2025082708203731000_16.4.e252484.11","doi-asserted-by":"publisher","DOI":"10.1043\/0003-9985(2002)126&lt;0928:ADOICO&gt;2.0.CO;2."},{"key":"2025082708203731000_16.4.e252484.12","doi-asserted-by":"crossref","unstructured":"Ribeiro JO , Alvarenga LR , Carvalho RB , et al . Reduced number of Cajal cells in Hirschsprung disease patients\u2019 do not relate with postsurgical symptoms. Resid Pediatr 2021;11. doi:10.25060\/residpediatr-2021.v11n3-210 Available: http:\/\/residenciapediatrica.com.br\/sumario\/55","DOI":"10.25060\/residpediatr-2021.v11n3-210"},{"key":"2025082708203731000_16.4.e252484.13","doi-asserted-by":"publisher","DOI":"10.1016\/0022-3468(66)90334-4"},{"key":"2025082708203731000_16.4.e252484.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpg.2010.11.001"},{"key":"2025082708203731000_16.4.e252484.15","doi-asserted-by":"crossref","unstructured":"Evans\u2010Barns HME , Swannjo JB , Trajanovska M , et al . Post\u2010operative anorectal manometry in children with Hirschsprung disease: a systematic review. 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