{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T03:03:45Z","timestamp":1781665425589,"version":"3.54.5"},"reference-count":8,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,5,17]]},"abstract":"<jats:p>Fabry\u2019s disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of \u03b1-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. We present a case of FD in a 65-year-old woman masquerading as benign MS for 40 years. She has recurrent posterior circulation stroke-like symptoms, hearing loss and acroparaesthesia, but typical radiological features of MS on MRI brain. Later she developed an ischaemic stroke, infiltrative cardiomyopathy and chronic renal failure. There was a missense mutation at p.R342Q in the galactodisdase alpha (GLA) gene. Neurologists need to consider FD and look for red flags in atypical MS cases and should not be over-reliant on MRI findings. Missed diagnosis of FD could lead to unnecessary immunosuppression, inappropriate disease counselling and missed treatment opportunity.<\/jats:p>","DOI":"10.1136\/bcr-2017-220274","type":"journal-article","created":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T04:50:20Z","timestamp":1496379020000},"page":"bcr-2017-220274","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":6,"title":["Fabry heterozygote mimicking multiple sclerosis"],"prefix":"10.1136","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6284-9163","authenticated-orcid":false,"given":"Wai Yan","family":"Yau","sequence":"first","affiliation":[{"name":"Department of Neurology, Royal Free Hospital, Sir Charles Gairdner Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena J","family":"Fabis-Pedrini","sequence":"additional","affiliation":[{"name":"Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allan G","family":"Kermode","sequence":"additional","affiliation":[{"name":"Department of Neurology, Sir Charles Gairdner Hospital, Western Australian Neuromuscular Research Institute, Nedlands, Western Australia, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2017,6,2]]},"reference":[{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22366"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(06)70548-8"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.3","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31802d8321"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.4","doi-asserted-by":"publisher","DOI":"10.1177\/1352458516638747"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.6","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl310"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.7","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu397"},{"key":"2025082703030672000_2017.jun01_1.bcr-2017-220274.8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0071894","article-title":"Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?","volume":"8","author":"B\u00f6ttcher","year":"2013","journal-title":"PLoS One"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-220274","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T10:03:12Z","timestamp":1756288992000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-220274"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,2]]},"references-count":8,"alternative-id":["10.1136\/bcr-2017-220274"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-220274","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,2]]}}}