{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,16]],"date-time":"2025-09-16T18:00:39Z","timestamp":1758045639542,"version":"3.44.0"},"reference-count":11,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2025,3,31]]},"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:p>Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a late-onset autoinflammatory disorder caused by somatic mutations in the ubiquitin-attaching protein 1 (<jats:italic>UBA1<\/jats:italic>) gene. It primarily affects men aged over 50. We report a middle-aged man presenting with bilateral orbital inflammation, sixth nerve palsy, relapsing polychondritis, sensorineural hearing loss, possible vestibulopathy and a papulovesicular rash. He had macrocytic anaemia and elevated inflammatory markers, but normal autoimmune and infective screens. Imaging identified features of orbital pseudotumour. Genetic testing confirmed a <jats:italic>UBA1<\/jats:italic> p.Met41Thr mutation, confirming VEXAS syndrome. We gave intravenous methylprednisolone, then oral prednisolone and subsequently tocilizumab. This case highlights the multisystem presentation and rare neurological manifestations of VEXAS syndrome and emphasises the importance of genetic testing in its diagnosis. Current treatment options include corticosteroids, interleukin-6 inhibitors and Janus kinase inhibitors, with haematopoietic stem cell transplantation offering curative potential.<\/jats:p>","DOI":"10.1136\/pn-2025-004530","type":"journal-article","created":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T13:20:20Z","timestamp":1745328020000},"page":"458-461","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome"],"prefix":"10.1136","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-5450-0059","authenticated-orcid":false,"given":"Chethana","family":"Ramakrishna","sequence":"first","affiliation":[{"name":"Rheumatology, Queen Alexandra Hospital, Portsmouth, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepti","family":"Kapur","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Countess of Chester Hospital, Chester, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4623-5943","authenticated-orcid":false,"given":"Jagdish","family":"Ramachandran Nair","sequence":"additional","affiliation":[{"name":"Rheumatology, Aintree University Hospitals NHS Foundation Trust, Liverpool, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,4,22]]},"reference":[{"key":"2025091212001205000_25.5.458.1","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1080\/1744666X.2023.2157262","article-title":"An update on VEXAS syndrome","volume":"19","author":"Al-Hakim","year":"2023","journal-title":"Expert Rev Clin Immunol"},{"key":"2025091212001205000_25.5.458.2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022016985"},{"key":"2025091212001205000_25.5.458.3","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.20805"},{"key":"2025091212001205000_25.5.458.4","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/annrheumdis-2024-eular.1382","article-title":"The role of 18FDG-PET imaging in VEXAS syndrome: a multicentric case series and a review of the literature","volume":"83","author":"Bixio","year":"2024","journal-title":"Ann Rheum Dis"},{"key":"2025091212001205000_25.5.458.5","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2021-003031"},{"key":"2025091212001205000_25.5.458.6","doi-asserted-by":"crossref","DOI":"10.1016\/j.nerep.2023.100176","article-title":"Rhombencephalitis in a patient with VEXAS syndrome","volume":"4","author":"Johnsson","year":"2023","journal-title":"Neuroimmunol Rep"},{"key":"2025091212001205000_25.5.458.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2021.05.014"},{"key":"2025091212001205000_25.5.458.8","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2022016642"},{"key":"2025091212001205000_25.5.458.9","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.17893"},{"key":"2025091212001205000_25.5.458.10","doi-asserted-by":"crossref","first-page":"e314","DOI":"10.1093\/rheumatology\/keab211","article-title":"VEXAS syndrome in a patient with previous spondyloarthritis with a favourable response to intravenous immunoglobulin and anti-IL17 therapy","volume":"60","author":"Magnol","year":"2021","journal-title":"Rheumatology (Oxford)"},{"key":"2025091212001205000_25.5.458.11","doi-asserted-by":"crossref","DOI":"10.3389\/fmed.2022.926500","article-title":"Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome","volume":"9","author":"Vitale","year":"2022","journal-title":"Front Med (Lausanne)"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2025-004530","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T19:00:27Z","timestamp":1757703627000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2025-004530"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,22]]},"references-count":11,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2025,9,12]]},"published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1136\/pn-2025-004530"],"URL":"https:\/\/doi.org\/10.1136\/pn-2025-004530","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2025,4,22]]}}}