{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T14:15:17Z","timestamp":1740147317975,"version":"3.37.3"},"reference-count":7,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:00:00Z","timestamp":1715472000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:00:00Z","timestamp":1715472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Danon disease is a lysosomal storage disorder with X-linked inheritance. The classic triad is severe hypertrophic cardiomyopathy, myopathy, and intellectual disability, with different phenotypes between both genders. Ischemic stroke is an uncommon complication, mostly cardioembolic, related to intraventricular thrombus or atrial fibrillation, among others.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case report<\/jats:title>\n                <jats:p>We report the case of a 14-year-old Caucasian male patient with Danon disease who suffered from an acute ischemic stroke due to occlusion in the M1 segment of the middle cerebral artery. He underwent mechanical thrombectomy, resulting in successful revascularization with satisfactory clinical outcome. We objectified the intraventricular thrombus in the absence of arrhythmic events.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>To our knowledge, we report the first case of ischemic stroke related to Danon disease treated with endovascular treatment.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13256-024-04555-7","type":"journal-article","created":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:01:52Z","timestamp":1715472112000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Endovascular treatment in Danon disease: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Rayco","family":"Jim\u00e9nez-Bola\u00f1os","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6681-2683","authenticated-orcid":false,"given":"Francisco","family":"Hern\u00e1ndez-Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Garc\u00eda-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d3scar","family":"Ayo-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"del Rey Megias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan David","family":"Molina-Nuevo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1s","family":"Segura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,5,12]]},"reference":[{"issue":"1","key":"4555_CR1","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1212\/wnl.31.1.51","volume":"31","author":"M Danon","year":"1981","unstructured":"Danon M, Oh S, DiMauro S, Manaligod J, Eastwood A, Naidu S, et\u00a0al. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31(1):51\u201351. https:\/\/doi.org\/10.1212\/wnl.31.1.51.","journal-title":"Neurology"},{"issue":"6","key":"4555_CR2","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1016\/j.rec.2018.04.035","volume":"72","author":"A L\u00f3pez-Sainz","year":"2019","unstructured":"L\u00f3pez-Sainz A, Salazar-Mendiguch\u00eda J, Garc\u00eda-\u00c1lvarez A, Campuzano Larrea O, L\u00f3pez-Garrido MA, Garc\u00eda-Guereta L, et\u00a0al. Clinical findings and prognosis of Danon disease an analysis of the Spanish Multicenter Danon Registry. Rev Esp Cardiol. 2019;72(6):479\u201386. https:\/\/doi.org\/10.1016\/j.rec.2018.04.035.","journal-title":"Rev Esp Cardiol."},{"issue":"4","key":"4555_CR3","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1111\/nan.12587","volume":"46","author":"G Cenacchi","year":"2019","unstructured":"Cenacchi G, Papa V, Pegoraro V, Marozzo R, Fanin M, Angelini C. Review: Danon disease: review of natural history and recent advances. Neuropathol Appl Neurobiol. 2019;46(4):303\u201322. https:\/\/doi.org\/10.1111\/nan.12587.","journal-title":"Neuropathol Appl Neurobiol"},{"issue":"4","key":"4555_CR4","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1111\/j.1399-0004.2008.00971.x","volume":"73","author":"M Spinazzi","year":"2008","unstructured":"Spinazzi M, Fanin M, Melacini P, Nascimbeni A, Angelini C. Cardioembolic stroke in Danon disease. Clin Genet. 2008;73(4):388\u201390. https:\/\/doi.org\/10.1111\/j.1399-0004.2008.00971.x.","journal-title":"Clin Genet"},{"key":"4555_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1155\/2017\/6576382","volume":"2017","author":"T Tsuda","year":"2017","unstructured":"Tsuda T, Shillingford A, Vetter J, Kandula V, Jain B, Temple J. Transient ischemic attack and ischemic stroke in Danon disease with formation of left ventricular apical thrombus despite normal systolic function. Case Rep Pediatr. 2017;2017:1\u20135. https:\/\/doi.org\/10.1155\/2017\/6576382.","journal-title":"Case Rep Pediatr"},{"issue":"12","key":"4555_CR6","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1016\/j.nmd.2016.09.025","volume":"26","author":"M Marino","year":"2016","unstructured":"Marino M, Musumeci O, Paleologo G, Cucinotta M, Migliorato A, Rodolico C, et\u00a0al. Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease. Neuromuscul Disord. 2016;26(12):890\u20134. https:\/\/doi.org\/10.1016\/j.nmd.2016.09.025.","journal-title":"Neuromuscul Disord"},{"key":"4555_CR7","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1038\/s41436-018-0046-0","volume":"21","author":"F Mazzarotto","year":"2019","unstructured":"Mazzarotto F, Girolami F, Boschi B, Barlocco F, Tomberli A, Baldini K, et\u00a0al. Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center. Genet Med. 2019;21:284\u201392. https:\/\/doi.org\/10.1038\/s41436-018-0046-0.","journal-title":"Genet Med"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04555-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04555-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04555-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T00:02:01Z","timestamp":1715472121000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04555-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,12]]},"references-count":7,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4555"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04555-7","relation":{},"ISSN":["1752-1947"],"issn-type":[{"type":"electronic","value":"1752-1947"}],"subject":[],"published":{"date-parts":[[2024,5,12]]},"assertion":[{"value":"17 December 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 April 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 May 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors of the research asked all patients to sign an informed consent prior to undergoing the diaphragmatic ultrasonography. The good clinical practice guidelines and the Declaration of Helsinki were followed. Confidentiality of the data obtained was kept and they were only used for the study purposes. Our clinical research was reviewed and approved by the Clinical Research Ethics committee of the University Hospital Complex of Albacete.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"244"}}