{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T01:30:02Z","timestamp":1774575002523,"version":"3.50.1"},"reference-count":28,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,1,3]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>Multiple chronic ulcers of the small intestine are primarily attributed to Crohn\u2019s disease. Other differential diagnoses include rare monogenic disorders caused by mutations in <jats:italic>PLA2G4A<\/jats:italic> and <jats:italic>SLCO2A1<\/jats:italic>, the latter responsible for chronic enteropathy associated with <jats:italic>SLCO2A1<\/jats:italic> (CEAS), a condition mainly reported in Asian patients. We present the case of a 10-year-old girl from India with a 5-year history of abdominal pain, altered bowel habits and failure to gain weight. Despite multiple admissions and treatment with steroids, immunomodulators and biologics, her symptoms persisted. Exome sequencing confirmed CEAS, and radiographic imaging revealed multiple strictures in the small intestine, confirmed during laparotomy. Multiple Heineke-Mikulicz type strictureplasties were performed. This case underscores the importance of considering CEAS in patients with recurrent small intestinal ulcerations, particularly in the presence of concentric strictures, and highlights the role of genetic testing for <jats:italic>SLCO2A1<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1136\/bcr-2024-263684","type":"journal-article","created":{"date-parts":[[2025,1,21]],"date-time":"2025-01-21T23:45:40Z","timestamp":1737503140000},"page":"e263684","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Chronic enteropathy associated with SLCO2A1 from North India: a rare monogenic condition mimicking Crohn\u2019s disease"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1228-1981","authenticated-orcid":false,"given":"Gaurav","family":"Prasad","sequence":"first","affiliation":[{"name":"Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaushal","family":"Kulkarni","sequence":"additional","affiliation":[{"name":"Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjan Kumar","family":"Dhua","sequence":"additional","affiliation":[{"name":"Paediatric Surgery, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohan","family":"Malik","sequence":"additional","affiliation":[{"name":"Pediatrics, All India Institute of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,1,21]]},"reference":[{"key":"2025082722512979000_18.1.e263684.1","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s12098-023-04671-0","article-title":"Inflammatory Bowel Disease in Children","volume":"91","author":"Jois","year":"2024","journal-title":"Indian J Pediatr"},{"key":"2025082722512979000_18.1.e263684.2","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1097\/MPG.0000000000003017","article-title":"Clinical Genomics for the Diagnosis of Monogenic Forms of Inflammatory Bowel Disease: A Position Paper From the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology","volume":"72","author":"Charbit-Henrion F,","year":"2021","journal-title":"Hepatology and Nutrition J Pediatr Gastroenterol Nutr"},{"key":"2025082722512979000_18.1.e263684.3","doi-asserted-by":"crossref","first-page":"816","DOI":"10.1093\/ecco-jcc\/jjac181","article-title":"Crohn-like Disease Affecting Small Bowel Due to Monogenic SLCO2A1 Mutations: First Cases of Chronic Enteropathy Associated with SLCO2A1 Gene [CEAS] in France","volume":"17","author":"Hamon","year":"2023","journal-title":"J Crohns Colitis"},{"key":"2025082722512979000_18.1.e263684.4","doi-asserted-by":"crossref","DOI":"10.1136\/bmjgast-2018-000223","article-title":"A male Korean who was diagnosed with chronic enteropathy associated with SLCO2A1 (CEAS): case report with literature review","volume":"5","author":"Sun","year":"2018","journal-title":"BMJ Open Gastroenterol"},{"key":"2025082722512979000_18.1.e263684.5","doi-asserted-by":"crossref","first-page":"2992","DOI":"10.1007\/s10620-020-06629-0","article-title":"Four Variants of SLCO2A1 Identified in Three Chinese Patients with Chronic Enteropathy Associated with the SLCO2A1 Gene","volume":"66","author":"Huang","year":"2021","journal-title":"Dig Dis Sci"},{"key":"2025082722512979000_18.1.e263684.6","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1093\/ecco-jcc\/jjx068","article-title":"Chronic Enteropathy Associated With SLCO2A1 Gene [CEAS]-Characterisation of an Enteric Disorder to be Considered in the Differential Diagnosis of Crohn\u2019s Disease","volume":"11","author":"Hosoe","year":"2017","journal-title":"J Crohns Colitis"},{"key":"2025082722512979000_18.1.e263684.7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005581","article-title":"A Hereditary Enteropathy Caused by Mutations in the SLCO2A1 Gene, Encoding a Prostaglandin Transporter","volume":"11","author":"Umeno","year":"2015","journal-title":"PLoS Genet"},{"key":"2025082722512979000_18.1.e263684.8","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1097\/MPG.0000000000001321","article-title":"Pediatric-onset Chronic Nonspecific Multiple Ulcers of Small Intestine: A Nationwide Survey and Genetic Study in Japan","volume":"64","author":"Nakajima A,","year":"2017","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2025082722512979000_18.1.e263684.9","first-page":"787","article-title":"The application of Montreal classification in different clinical and serological IBD subtypes","volume":"57","author":"Kumor A,","year":"2010","journal-title":"Hepatogastroenterology"},{"key":"2025082722512979000_18.1.e263684.10","doi-asserted-by":"crossref","first-page":"46","DOI":"10.18528\/ijgii240003","article-title":"A rare cause of obscure gastrointestinal bleeding: Chronic enteropathy associated with SLCO2A1 mutation in a case from India","volume":"13","author":"Chopra","year":"2024","journal-title":"Int J Gastrointest Interv"},{"key":"2025082722512979000_18.1.e263684.11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"2025082722512979000_18.1.e263684.12","doi-asserted-by":"crossref","first-page":"942","DOI":"10.5009\/gnl210415","article-title":"Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with SLCO2A1 Gene: A KASID Multicenter Study","volume":"16","author":"Hong","year":"2022","journal-title":"Gut Liver"},{"key":"2025082722512979000_18.1.e263684.13","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1186\/s13023-024-03177-y","article-title":"Clinical and genetic characteristics of Chinese patients diagnosed with chronic enteropathy associated with SLCO2A1 gene","volume":"19","author":"Shang","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2025082722512979000_18.1.e263684.14","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2022-058037","article-title":"Pediatric Inflammatory Bowel Disease","volume":"151","author":"Bouhuys","year":"2023","journal-title":"Pediatrics"},{"key":"2025082722512979000_18.1.e263684.15","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1159\/000369540","article-title":"Eosinophilic Enteritis","volume":"33","author":"Pineton de Chambrun","year":"2015","journal-title":"Dig Dis"},{"key":"2025082722512979000_18.1.e263684.16","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.2003.015735"},{"key":"2025082722512979000_18.1.e263684.17","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1097\/00054725-200108000-00010","article-title":"Colonoscopic findings in intestinal Beh\u00e7et\u2019s disease","volume":"7","author":"Lee","year":"2001","journal-title":"Inflamm Bowel Dis"},{"key":"2025082722512979000_18.1.e263684.18","doi-asserted-by":"publisher","DOI":"10.1177\/2050640619844125"},{"key":"2025082722512979000_18.1.e263684.19","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v18.i39.5495"},{"key":"2025082722512979000_18.1.e263684.20","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2012.146"},{"key":"2025082722512979000_18.1.e263684.21","doi-asserted-by":"crossref","first-page":"305","DOI":"10.3348\/kjr.2022.0684","article-title":"A Novel Chronic Enteropathy Associated with SLCO2A1 Gene Mutation: Enterography Findings in a Multicenter Korean Registry","volume":"24","author":"Jeong","year":"2023","journal-title":"Korean J Radiol"},{"key":"2025082722512979000_18.1.e263684.22","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1007\/s00535-017-1426-y","article-title":"Clinical features of chronic enteropathy associated with SLCO2A1 gene: a new entity clinically distinct from Crohn\u2019s disease","volume":"53","author":"Umeno","year":"2018","journal-title":"J Gastroenterol"},{"key":"2025082722512979000_18.1.e263684.23","doi-asserted-by":"crossref","first-page":"2505","DOI":"10.3748\/wjg.v30.i19.2505","article-title":"Pathogenesis of chronic enteropathy associated with the SLCO2A1 gene: Hypotheses and conundrums","volume":"30","author":"Xie","year":"2024","journal-title":"World J Gastroenterol"},{"key":"2025082722512979000_18.1.e263684.24","doi-asserted-by":"crossref","first-page":"e68","DOI":"10.1016\/j.clinre.2019.05.003","article-title":"Chronic enteropathy associated with SLCO2A1 gene: A case report and literature review","volume":"43","author":"Hu","year":"2019","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"2025082722512979000_18.1.e263684.25","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0241869","article-title":"A novel mutation in the SLCO2A1 gene, encoding a prostaglandin transporter, induces chronic enteropathy","volume":"15","author":"Jimbo","year":"2020","journal-title":"PLoS ONE"},{"key":"2025082722512979000_18.1.e263684.26","doi-asserted-by":"crossref","first-page":"62","DOI":"10.5009\/gnl18261","article-title":"Distinction between Chronic Enteropathy Associated with the SLCO2A1 Gene and Crohn\u2019s Disease","volume":"13","author":"Yanai","year":"2019","journal-title":"Gut Liver"},{"key":"2025082722512979000_18.1.e263684.27","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-024-03221-x","article-title":"A novel variant in the SLCO2A1 gene in a Chinese patient with chronic gastroenteropathy and primary hypertrophic osteoarthropathy","volume":"19","author":"Dai","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"2025082722512979000_18.1.e263684.28","doi-asserted-by":"crossref","first-page":"102021","DOI":"10.1016\/j.clinre.2022.102021","article-title":"Chronic enteropathy associated with SLCO2A1-associated primary hypertrophic osteoarthropathy in a female patient","volume":"46","author":"Long","year":"2022","journal-title":"Clin Res Hepatol Gastroenterol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-263684","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:51:39Z","timestamp":1756360299000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-263684"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":28,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,21]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/bcr-2024-263684"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-263684","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}