{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:32:53Z","timestamp":1781847173804,"version":"3.54.5"},"reference-count":14,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,23]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>\n                  <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"uri\" xlink:href=\"https:\/\/casereports.bmj.com\/content\/14\/5\/e240923.responses#editors-note\">Editor's Note<\/jats:ext-link>: Visceral myopathy is a rare, often misdiagnosed disease characterised by abnormalities in the gastrointestinal smooth muscle layer. Its clinical presentation includes pseudo-obstruction, intestinal dysmotility and spontaneous perforation. We report an atypical case of a 51-year-old man with a history of recurrent small bowel perforations who presented with an acute abdomen. A laparotomy was performed with identification of a distal jejunal perforation. A small bowel resection with end-to-end anastomosis was done. Minimal adhesions were seen intraoperatively despite the patient\u2019s multiple prior surgeries. Pathology showed histiocytic inflammation and patchy loss of the muscle layer reflective of visceral myopathy. Genetic testing revealed a variant of uncertain significance in the myosin light chain kinase gene. It is difficult to make a conclusive diagnosis given the patient\u2019s clinical presentation closely mimicking other gastrointestinal disorders. However, it is crucial to consider visceral myopathy in patients with recurrent spontaneous intestinal perforations as a differential diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2020-240923","type":"journal-article","created":{"date-parts":[[2021,5,13]],"date-time":"2021-05-13T13:12:27Z","timestamp":1620911547000},"page":"e240923","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Recurrent spontaneous small bowel perforations with a rare pathology: non-familial visceral myopathy"],"prefix":"10.1136","volume":"14","author":[{"given":"Meiyi","family":"Shi","sequence":"first","affiliation":[{"name":"Department of Surgery, Hackensack University Medical Center, Hackensack, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Mee","family":"Choi","sequence":"additional","affiliation":[{"name":"Department of Surgery, Rutgers New Jersey Medical School, Newark, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Kiselak","sequence":"additional","affiliation":[{"name":"Department of Surgery, Hackensack University Medical Center, Hackensack, New Jersey, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2021,5,13]]},"reference":[{"key":"2025090209150945000_14.5.e240923.1","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/0016-5085(86)90937-6","article-title":"A familial visceral myopathy with dilatation of the entire gastrointestinal tract","volume":"90","author":"Anuras","year":"1986","journal-title":"Gastroenterology"},{"key":"2025090209150945000_14.5.e240923.2","first-page":"526","article-title":"Non-Traumatic spontaneous ileal perforation: experience with 125 cases","volume":"26","author":"Khalid","year":"2014","journal-title":"J Ayub Med Coll Abbottabad"},{"key":"2025090209150945000_14.5.e240923.3","doi-asserted-by":"crossref","first-page":"5191","DOI":"10.3748\/wjg.v21.i17.5191","article-title":"Role of vitamins in gastrointestinal diseases","volume":"21","author":"Masri","year":"2015","journal-title":"World J Gastroenterol"},{"key":"2025090209150945000_14.5.e240923.4","doi-asserted-by":"crossref","DOI":"10.1007\/s11894-019-0741-2","article-title":"Small bowel diverticulosis: pathogenesis, clinical management, and new concepts","volume":"22","author":"Rangan","year":"2020","journal-title":"Curr Gastroenterol Rep"},{"key":"2025090209150945000_14.5.e240923.5","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/0016-5085(83)90005-7","article-title":"Jejunal diverticulosis. A heterogenous disorder caused by a variety of abnormalities of smooth muscle or myenteric plexus","volume":"85","author":"Krishnamurthy","year":"1983","journal-title":"Gastroenterology"},{"key":"2025090209150945000_14.5.e240923.6","doi-asserted-by":"crossref","first-page":"2881","DOI":"10.1007\/s00330-015-4098-0","article-title":"Magnetic resonance enterography\/enteroclysis in acquired small bowel diverticulitis and small bowel diverticulosis","volume":"26","author":"Mansoori","year":"2016","journal-title":"Eur Radiol"},{"key":"2025090209150945000_14.5.e240923.7","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1038\/ejhg.2015.32","article-title":"The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome","volume":"23","author":"Frank","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"2025090209150945000_14.5.e240923.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31553"},{"key":"2025090209150945000_14.5.e240923.9","doi-asserted-by":"crossref","first-page":"2120","DOI":"10.1007\/s10620-019-5467-3","article-title":"Fragility of life: recurrent intestinal perforation due to vascular Ehlers-Danlos syndrome","volume":"64","author":"Sceats","year":"2019","journal-title":"Dig Dis Sci"},{"key":"2025090209150945000_14.5.e240923.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.006"},{"key":"2025090209150945000_14.5.e240923.11","first-page":"1","article-title":"Acute abdomen and perforated bowel with a rare pathology: nonfamilial visceral myopathy","volume":"2011","author":"Burcharth","year":"2011","journal-title":"Case Rep Surg"},{"key":"2025090209150945000_14.5.e240923.12","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1177\/1066896918786586","article-title":"ACTG2-Associated visceral myopathy with chronic intestinal pseudoobstruction, intestinal malrotation, hypertrophic pyloric stenosis, choledochal cyst, and a novel missense mutation","volume":"27","author":"Collins","year":"2019","journal-title":"Int J Surg Pathol"},{"key":"2025090209150945000_14.5.e240923.13","doi-asserted-by":"crossref","first-page":"2965","DOI":"10.1002\/ajmg.a.37857","article-title":"Visceral myopathy: clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes","volume":"170","author":"Moreno","year":"2016","journal-title":"Am J Med Genet A"},{"key":"2025090209150945000_14.5.e240923.14","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1097\/MCG.0000000000001047","article-title":"Pathophysiology, diagnosis, and management of chronic intestinal pseudo-obstruction","volume":"52","author":"Downes","year":"2018","journal-title":"J Clin Gastroenterol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2020-240923","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T16:15:18Z","timestamp":1756829718000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2020-240923"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5]]},"references-count":14,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2021,5,13]]},"published-print":{"date-parts":[[2021,5]]}},"alternative-id":["10.1136\/bcr-2020-240923"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2020-240923","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5]]}}}