{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T08:25:54Z","timestamp":1787646354711,"version":"build-2736575974"},"reference-count":6,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T00:00:00Z","timestamp":1787356800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mult Scler"],"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare autosomal recessive leukodystrophy typically diagnosed in early childhood and can mimic changes seen in demyelinating disorders.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>To describe a case of LBSL diagnosed in adulthood presenting with mild neurological findings and abnormal neuroimaging, highlighting phenotypic variability and diagnostic challenges.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      A woman in her 20s was referred for demyelinating disease based on white matter lesions on magnetic resonance imaging (MRI). She was found to have mild pyramidal signs and was diagnosed with LBSL following whole exome sequencing (WES)\u2014biallelic likely pathogenic\n                      <jats:italic toggle=\"yes\">DARS2<\/jats:italic>\n                      variants (c.228-21_228-20delinsC and c.788G\u2009&gt;\u2009A [p.Arg263Gln])\u2014after an initially nondiagnostic leukodystrophy gene panel.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>This case illustrates LBSL can present in adulthood with relatively mild symptoms, radiographic features may overlap with demyelinating disease, and expanded genetic testing should be considered if the clinical suspicion is high despite initial non-diagnostic results.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/13524585261477212","type":"journal-article","created":{"date-parts":[[2026,8,22]],"date-time":"2026-08-22T12:11:46Z","timestamp":1787400706000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Taking another look: LBSL diagnosed in adulthood masquerading as multiple sclerosis"],"prefix":"10.1177","author":[{"given":"Carol","family":"Swetlik","sequence":"first","affiliation":[{"name":"Mellen Center for MS Treatment and Research, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumit","family":"Parikh","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurosciences, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4607-5740","authenticated-orcid":false,"given":"Aaron","family":"Abrams","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurosciences, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kriti","family":"Bhayana","sequence":"additional","affiliation":[{"name":"Center for Pediatric Neurosciences, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chintan","family":"Shah","sequence":"additional","affiliation":[{"name":"Neuroradiology, Department of Imaging, Diagnostics Institute, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0339-9876","authenticated-orcid":false,"given":"Kedar R","family":"Mahajan","sequence":"additional","affiliation":[{"name":"Mellen Center for MS Treatment and Research, Neurological Institute, Cleveland Clinic, Cleveland, OH, USA; Department of Neurosciences, Cleveland Clinic Research, Cleveland Clinic, Cleveland, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,22]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu026"},{"key":"e_1_3_2_3_2","volume-title":"Test catalog: test 55002","author":"Invitae","unstructured":"Invitae. Test catalog: test 55002. San Francisco, CA: Invitae."},{"key":"e_1_3_2_4_2","article-title":"Acute evidence of CNS inflammation in patients with mitochondrial diseases (P4.053)","volume":"2015","author":"Hacohen Y","unstructured":"Hacohen Y, Narula S, Waldman A, et al. Acute evidence of CNS inflammation in patients with mitochondrial diseases (P4.053). Neurology 2015; 84: P4053.","journal-title":"Neurology"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.09.003"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2024.122969"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.111123"}],"container-title":["Multiple Sclerosis Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261477212","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/13524585261477212","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/13524585261477212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T07:53:38Z","timestamp":1787644418000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/13524585261477212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,22]]},"references-count":6,"alternative-id":["10.1177\/13524585261477212"],"URL":"https:\/\/doi.org\/10.1177\/13524585261477212","relation":{},"ISSN":["1352-4585","1477-0970"],"issn-type":[{"value":"1352-4585","type":"print"},{"value":"1477-0970","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,22]]},"article-number":"13524585261477212"}}