{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T08:44:07Z","timestamp":1792053847589,"version":"4.4.0"},"reference-count":11,"publisher":"Maad Rayan Publishing Company","issue":"2","content-domain":{"domain":["mejdd.org"],"crossmark-restriction":false},"short-container-title":["Middle East J Dig Dis"],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:p>Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder often misdiagnosed due to its heterogeneous presentation. We describe a 21-year-old man with a long history of episodic nausea and vomiting, weight loss, and intermittent diarrhea since childhood, initially misdiagnosed as Crohn\u2019s disease following a colonoscopy-induced perforation. Despite treatment with adalimumab, his gastrointestinal symptoms persisted. Subsequent investigations revealed dilated stomach and duodenum, and new neurological findings (ptosis, nasal speech) prompted further evaluation. Brain magnetic resonance imaging (MRI) showed leukoencephalopathy, leading to the definitive diagnosis of MNGIE. This case highlights the importance of considering mitochondrial disorders in young patients with refractory gastrointestinal dysmotility and concomitant neurological features to prevent diagnostic delays and unnecessary interventions.<\/jats:p>","DOI":"10.34172\/mejdd.3386","type":"journal-article","created":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:47:23Z","timestamp":1792050443000},"page":"105-108","update-policy":"https:\/\/doi.org\/10.34172\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mitochondrial Neurogastrointestinal Encephalopathy: A Case Report from Northeast of Iran"],"prefix":"10.34172","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6792-3155","authenticated-orcid":true,"given":"Masoud M","family":"Malekzadeh","sequence":"first","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran"},{"name":"Digestive Disease Research Center, Digestive Disease Institute, Shariati Hospital, Tehran, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Anvari","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadi","family":"Bagherihosseini","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azita","family":"Ganji","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"20123","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0255-3"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.1097\/01.nrl.0000106919.06469.04"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1186\/1755-7682-3-35"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1661411"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.5152\/dir.2013.008"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.182.6.1821537"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1016-6"},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.1007\/s12031-021-01822-w"},{"key":"R9","doi-asserted-by":"publisher","DOI":"10.1186\/s43055-024-01310-2"},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.34172\/aim.2022.132"},{"key":"R11","first-page":"588","article-title":"Mitochondrial neurogastrointestinal encephalomyopathy","volume":"12","author":"Borhani Haghighi A","year":"2009","journal-title":"Arch Iran Med"}],"container-title":["Middle East Journal of Digestive Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/mejdd.org\/index.php\/mejdd\/article\/view\/3386\/2443","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/mejdd.org\/index.php\/mejdd\/article\/view\/3386\/2443","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:47:24Z","timestamp":1792050444000},"score":1,"resource":{"primary":{"URL":"http:\/\/mejdd.org\/index.php\/mejdd\/article\/view\/3386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,30]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,4,30]]}},"URL":"https:\/\/doi.org\/10.34172\/mejdd.3386","relation":{},"ISSN":["2008-5249"],"issn-type":[{"value":"2008-5249","type":"print"}],"subject":[],"published":{"date-parts":[[2026,4,30]]},"assertion":[{"value":"Iranian Association of Gastroerterology and Hepatology","name":"journal_owner","label":"Journal Owner"},{"value":"Iranian Association of Gastroerterology and Hepatology","name":"journal_publisher","label":"Journal Publisher"},{"value":"2025-12-05","order":1,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-19","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}