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MRI brain showed an extensive right sided subcortical white matter lesion, with extension into the brainstem. The patient\u2019s weakness progressed over 3 months. Brain biopsy showed evidence of demyelination and gliosis. A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystrophy (X-ALD) were proposed. Serum very long-chain fatty acids were significantly elevated. Genetic testing showed a mutation in the <jats:italic>ABCD1<\/jats:italic> gene, confirming a diagnosis of X-ALD.<\/jats:p>","DOI":"10.1136\/bcr-2020-237905","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T14:35:29Z","timestamp":1698762929000},"page":"e237905","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["X-linked cerebral adrenoleukodystrophy"],"prefix":"10.1136","volume":"16","author":[{"given":"Cara Louise","family":"Weldrick","sequence":"first","affiliation":[{"name":"Neurology, University Hospital Limerick, Limerick, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Boers","sequence":"additional","affiliation":[{"name":"Neurology, University Hospital Limerick, Limerick, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Kiely","sequence":"additional","affiliation":[{"name":"Radiology, University Hospital Limerick, Dooradoyle, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liam","family":"O'Halloran","sequence":"additional","affiliation":[{"name":"Radiology, University Hospital Limerick, Dooradoyle, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,10,31]]},"reference":[{"key":"2025082710085602000_16.10.e237905.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.8.5066"},{"key":"2025082710085602000_16.10.e237905.2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.2.265"},{"key":"2025082710085602000_16.10.e237905.3","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2015-209732","article-title":"The difficulty in diagnosing X linked Adrenoleukodystrophy and the importance of identifying cerebral involvement","volume":"2015","author":"Patel","year":"2015","journal-title":"BMJ Case Rep"},{"key":"2025082710085602000_16.10.e237905.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.01.027"},{"key":"2025082710085602000_16.10.e237905.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1227"},{"key":"2025082710085602000_16.10.e237905.6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2010.00392.x"},{"key":"2025082710085602000_16.10.e237905.7","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1212\/WNL.34.11.1410","article-title":"Bone marrow transplant in Adrenoleukodystrophy","volume":"34","author":"Moser","year":"1984","journal-title":"Neurology"},{"key":"2025082710085602000_16.10.e237905.8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2010.00394.x"},{"key":"2025082710085602000_16.10.e237905.9","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.bbmt.2018.09.036","article-title":"Survival and functional outcomes in boys with cerebral Adrenoleukodystrophy with and without hematopoietic stem cell transplantation","volume":"25","author":"Raymond","year":"2019","journal-title":"Biol Blood Marrow Transplant"},{"key":"2025082710085602000_16.10.e237905.10","doi-asserted-by":"crossref","unstructured":"Matsukawa T , Yamamoto T , Honda A , et al . 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