{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T00:48:34Z","timestamp":1777769314207,"version":"3.51.4"},"reference-count":15,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,3,30]]},"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>Tuberous sclerosis complex (TSC) is a rare neurocutaneous disorder presenting with growth of hamartomas in various parts of the body. There have been few reported cases of TSC coexisting with hypercoagulable states from protein C and S deficiency and systemic lupus erythematosus, but to the best of our knowledge, this is the first documented case of TSC occurring with primary antiphospholipid syndrome. We report the case of an adolescent female with ash-leaf spots, shagreen patches, cortical tubers and seizures presenting with acute unilateral vision loss from ophthalmic artery thrombosis. Work-up was positive for lupus anticoagulant, and genetic testing confirmed a mutation in the TSC1 gene. She was maintained on aspirin, warfarin and anti-seizure medications. Experimental models suggest possible pathways linking TSC1 deficiency with thrombosis, although this association remains unclear in humans. Podoplanin has been implicated as a candidate gene in both TSC-related epilepsy and thrombosis, potentially linking these two conditions.<\/jats:p>","DOI":"10.1136\/bcr-2025-271107","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:15:34Z","timestamp":1777479334000},"page":"e271107","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Tuberous sclerosis and\u2009primary\u2009antiphospholipid syndrome"],"prefix":"10.1136","volume":"19","author":[{"given":"Pamela Danielle T","family":"Lanuza","sequence":"first","affiliation":[{"name":"Department of Neurosciences, University of the Philippines-Philippine General Hospital, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin Michael C","family":"Moalong","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of the Philippines-Philippine General Hospital, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benilda C","family":"Sanchez-Gan","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of the Philippines-Philippine General Hospital, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katerina Tanya","family":"Perez-Gosiengfiao","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, University of the Philippines-Philippine General Hospital, Manila, NCR, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2026,4,29]]},"reference":[{"key":"2026042909151851000_19.4.e271107.1","unstructured":"Rout P , Zamora EA , Aeddula NR . Tuberous Sclerosis - StatPearls - NCBI Bookshelf.2024. 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Successful endovascular recanalization of massive cerebral venous sinus thrombosis in a patient with tuberous sclerosis and protein S deficiency: a case report. Oxf Med Case Reports 2019;2019. doi:10.1093\/omcr\/omz060","DOI":"10.1093\/omcr\/omz060"},{"key":"2026042909151851000_19.4.e271107.8","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1055\/s-0041-1739261","article-title":"Aortic Thrombus Embolization in A Patient with Tuberous Sclerosis","volume":"20","author":"Wolf","year":"2022","journal-title":"J Pediatr Neurol"},{"key":"2026042909151851000_19.4.e271107.9","doi-asserted-by":"crossref","unstructured":"Ahn YJ , Kim HH . Abstract 19695: Platelet TSC1 is an Important Mediator of Arterial Thrombosis. Circulation 2012;126. doi:10.1161\/circ.126.suppl_21.A19695","DOI":"10.1161\/circ.126.suppl_21.A19695"},{"key":"2026042909151851000_19.4.e271107.10","doi-asserted-by":"crossref","unstructured":"Kim EJ , Ahn YJ , Kim MH , et al . Abstract 160: Tuberosis Sclerosis Complex 1 Mediated Neointima Formation and Arterial Thrombosis Following Vascular Injury. Circ Res 2014;115. doi:10.1161\/res.115.suppl_1.160","DOI":"10.1161\/res.115.suppl_1.160"},{"key":"2026042909151851000_19.4.e271107.11","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.reuma.2015.08.003","article-title":"Coincidence of tuberous sclerosis and systemic lupus erythematosus-a case report","volume":"12","author":"Carrasco Cubero","year":"2016","journal-title":"Reumatol Clin"},{"key":"2026042909151851000_19.4.e271107.12","first-page":"766","article-title":"Coexistence of systemic lupus erythematosus, tuberous sclerosis and aggressive natural killer-cell leukaemia: coincidence or correlated?","volume":"25","author":"Olde Bekkink","year":"2016","journal-title":"Lupus (Los Angel)"},{"key":"2026042909151851000_19.4.e271107.13","doi-asserted-by":"crossref","first-page":"1190","DOI":"10.21037\/tp-24-211","article-title":"Screening for biomarkers of tuberous sclerosis complex\u2013associated epilepsy: a bioinformatics analysis","volume":"13","author":"Sun","year":"2024","journal-title":"Transl Pediatr"},{"key":"2026042909151851000_19.4.e271107.14","doi-asserted-by":"crossref","first-page":"106241","DOI":"10.1016\/j.intimp.2020.106241","article-title":"Transcriptome profiling of tolerogenic dendritic cells conditioned with dual mTOR kinase inhibitor, AZD8055","volume":"81","author":"Shao","year":"2020","journal-title":"Int Immunopharmacol"},{"key":"2026042909151851000_19.4.e271107.15","first-page":"12757","article-title":"Phosphorylated mTOR expression correlates with podoplanin expression and high tumor grade in esophageal squamous cell carcinoma","volume":"8","author":"Chuang","year":"2015","journal-title":"Int J Clin Exp Pathol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-271107","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T16:15:39Z","timestamp":1777479339000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-271107"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":15,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2026,4,29]]},"published-print":{"date-parts":[[2026,4]]}},"alternative-id":["10.1136\/bcr-2025-271107"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-271107","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]}}}