{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:26:13Z","timestamp":1781562373664,"version":"3.54.5"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Leukoencephalopathy with vanishing white matter (VWM) is an autosomal recessive disorder affecting the white matter of the brain. It typically manifests during childhood, with clinical features including sudden and severe neurological deterioration triggered by stressors such as febrile illness, minor head trauma, or stressful events. Adult-onset cases of VWM are exceptionally uncommon.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>In this case, we present an adult patient who exhibited late-onset progressive VWM characterized by ataxia, postural instability, cognitive impairment, and emotional disturbances. Comprehensive screening for endocrine, metabolic, tumor, and immunologic disorders yielded normal or negative results. Brain imaging revealed diffuse and confluent hyperintensity in the white matter on T2-weighted images, along with periventricular cavitations. Genetic testing confirmed the diagnosis of VWM, identifying two heterozygous variants in the eukaryotic translation initiation factor 2B subunit \u03b3 (<jats:italic>EIF2B3<\/jats:italic>) gene: a pathogenic variant, c.1037\u00a0T\u2009&gt;\u2009C (p.I346T), and a variant of undetermined significance, c.22A\u2009&gt;\u2009T (p.M8L). Upon a 2-year follow-up, the patient's symptoms deteriorated rapidly following a COVID-19 infection.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In conclusion, we have presented a case of classical adult-onset VWM. Since there are no cures or definitive treatments for the disease, it's extremely important to focus on early diagnosis and the prevention of stressors to avoid acute deterioration.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12883-024-03721-0","type":"journal-article","created":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T07:01:53Z","timestamp":1718262113000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Adult-onset leukoencephalopathy with vanishing white matter with compound heterozygous EIF2B3 gene variants"],"prefix":"10.1186","volume":"24","author":[{"given":"Meilin","family":"Gui","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lixia","family":"Qin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"issue":"10","key":"3721_CR1","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1097\/NEN.0b013e3181f2eafa","volume":"69","author":"M Bugiani","year":"2010","unstructured":"Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS. Leukoencephalopathy with vanishing white matter: a review. J Neuropathol Exp Neurol. 2010;69(10):987\u201396.","journal-title":"J Neuropathol Exp Neurol"},{"issue":"5","key":"3721_CR2","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1016\/S1474-4422(06)70440-9","volume":"5","author":"MS van der Knaap","year":"2006","unstructured":"van der Knaap MS, Pronk JC, Scheper GC. Vanishing white matter disease. Lancet Neurol. 2006;5(5):413\u201323.","journal-title":"Lancet Neurol"},{"issue":"4","key":"3721_CR3","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1038\/ng764","volume":"29","author":"PA Leegwater","year":"2001","unstructured":"Leegwater PA, Vermeulen G, K\u00f6nst AA, Naidu S, Mulders J, Visser A, et al. Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter. 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This study was approved by the Research Ethics Committee of the Second Xiangya hospital, Central South University.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of this case report was obtained from the patient's next of kin. This report does not contain any personal information that could lead to the identification of the patient.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publications"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"201"}}