{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T18:24:32Z","timestamp":1758479072057,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,10,9]]},"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>Erdheim-Chester disease is a rare histiocytic neoplasm with a wide range of clinical manifestations. Due to its rarity and protean characteristics, this condition often presents a diagnostic challenge. A Caucasian woman in her late 60s presented with unsteadiness, dysphagia and dysarthria. She was initially diagnosed with secondary progressive multiple sclerosis but deteriorated over 2 years with a potential lack of therapeutic response. Subsequent investigations resulted in the diagnosis of Erdheim-Chester disease. She received targeted therapy with BRAF and MAPK-pathway inhibitors. Her initial response to treatment has been positive with functional gains and reduced disease burden on MR brain imaging, and with no significant adverse effects.<\/jats:p>","DOI":"10.1136\/pn-2023-003865","type":"journal-article","created":{"date-parts":[[2023,11,6]],"date-time":"2023-11-06T13:21:16Z","timestamp":1699276876000},"page":"144-147","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Erdheim-Chester disease: misdiagnosed as multiple sclerosis"],"prefix":"10.1136","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2459-2437","authenticated-orcid":false,"given":"Jason","family":"Yang","sequence":"first","affiliation":[{"name":"Medicine, The University of Queensland - Saint Lucia Campus, Saint Lucia, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise","family":"Imlay-Gillespie","sequence":"additional","affiliation":[{"name":"Haematology, Lismore Base Hospital, Lismore, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith Gerarda","family":"Dierkes","sequence":"additional","affiliation":[{"name":"Rehabilitation, Ballina District Hospital, Ballina, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9642-1445","authenticated-orcid":false,"given":"Tien Kheng","family":"Khoo","sequence":"additional","affiliation":[{"name":"School of Medicine and Dentistry, Griffith University, Gold Coast, Queensland, Australia"},{"name":"Graduate School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2023,11,6]]},"reference":[{"key":"2025090411355943000_24.2.144.1","doi-asserted-by":"crossref","first-page":"1929","DOI":"10.1182\/blood.2019003507","article-title":"Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era","volume":"135","author":"Goyal","year":"2020","journal-title":"Blood"},{"key":"2025090411355943000_24.2.144.2","unstructured":"Swerdlow SH . International Agency For Research On Cancer; WHO classification of tumours of haematopoietic and lymphoid tissues, . 2017 Available: http:\/\/publications.iarc.fr\/Book-And-Report-Series\/Who-Iarc-Classification-Of-Tumours\/Who-Classification-Of-Tumours-Of-Haematopoietic-And-Lymphoid-Tissues-2017"},{"key":"2025090411355943000_24.2.144.3","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2016001784"},{"key":"2025090411355943000_24.2.144.4","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1212\/WNL.0000000000006583","article-title":"Misdiagnosis of multiple sclerosis","volume":"92","author":"Solomon","year":"2019","journal-title":"Neurology"},{"key":"2025090411355943000_24.2.144.5","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1038\/nrneurol.2017.106","article-title":"The tension between early diagnosis and Misdiagnosis of multiple sclerosis","volume":"13","author":"Solomon","year":"2017","journal-title":"Nat Rev Neurol"},{"key":"2025090411355943000_24.2.144.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.msard.2019.02.008"},{"key":"2025090411355943000_24.2.144.7","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(15)00393-2"},{"key":"2025090411355943000_24.2.144.8","doi-asserted-by":"publisher","DOI":"10.3390\/neurolint14030060"},{"key":"2025090411355943000_24.2.144.9","doi-asserted-by":"crossref","unstructured":"Manaka K , Sato J , Makita N . Neuroendocrine manifestations of Erdheim\u2013Chester disease. Elsevier eBooks 2021:137\u201347.","DOI":"10.1016\/B978-0-12-820683-6.00010-5"},{"key":"2025090411355943000_24.2.144.10","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A7832"},{"key":"2025090411355943000_24.2.144.11","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-03-771873"},{"key":"2025090411355943000_24.2.144.12","unstructured":"Dabrafenib and Trametinib in people with BRAF V600E Mutation positive lesions in Erdheim Chester disease - full text view - Clinicaltrials.Gov. 2014. Available: https:\/\/classic.clinicaltrials.gov\/ct2\/show\/NCT02281760 [Accessed 15 Sep 2023]."}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-003865","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T18:36:08Z","timestamp":1757010968000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-003865"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,6]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,3,19]]},"published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1136\/pn-2023-003865"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-003865","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"type":"print","value":"1474-7758"},{"type":"electronic","value":"1474-7766"}],"subject":[],"published":{"date-parts":[[2023,11,6]]}}}