{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T19:54:44Z","timestamp":1768420484620,"version":"3.49.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T00:00:00Z","timestamp":1623196800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["81870937"],"award-info":[{"award-number":["81870937"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82071320"],"award-info":[{"award-number":["82071320"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is an adult-onset rare monogenic microvasculopathy. Its typical neuroimaging features are punctate white matter lesions or pseudotumor alterations. RVCL-S is often under-recognized and misdiagnosed because of its rarity and similar imaging manifestations to multiple sclerosis or brain malignant mass.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>Here we report a case of a 36-year-old Chinese man who developed multiple tumefactive brain lesions spanning over two years leading to motor aphasia, cognitive decline, and limb weakness. He also presented with slight vision loss, and fundus fluorescein angiography indicated retinal vasculopathy. He underwent brain biopsies twice and showed no evidence of malignancy. Given the family history that his father died of a brain mass of unclear etiology, RVCL-S was suspected, and genetic analysis confirmed the diagnosis with a heterozygous insertion mutation in the three-prime repair exonuclease 1 gene. He was given courses of corticosteroids and cyclophosphamide but received little response.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The present case is one of the few published reports of RVCL-S with two-year detailed imaging data. Serial magnetic resonance images showed the progression pattern of the lesions. Our experience emphasizes that a better understanding of RVCL-S and considering it as a differential diagnosis in patients with tumefactive brain lesions may help avoid unnecessary invasive examinations and make an earlier diagnosis.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12883-021-02250-4","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T05:50:10Z","timestamp":1623217810000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Serial magnetic resonance imaging changes of pseudotumor lesions in retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Yuying","family":"Yan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuai","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruilin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2067-9965","authenticated-orcid":false,"given":"Bo","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,9]]},"reference":[{"issue":"9","key":"2250_CR1","doi-asserted-by":"publisher","first-page":"1068","DOI":"10.1038\/ng2082","volume":"39","author":"A Richards","year":"2007","unstructured":"Richards A, van den Maagdenberg AM, Jen JC, Kavanagh D, Bertram P, Spitzer D, et al. C-terminal truncations in human 3\u2019-5\u2019 DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007;39(9):1068\u201370. https:\/\/doi.org\/10.1038\/ng2082.","journal-title":"Nat Genet"},{"issue":"14","key":"2250_CR2","doi-asserted-by":"publisher","first-page":"e1918","DOI":"10.1212\/WNL.0000000000010659","volume":"95","author":"AL Ford","year":"2020","unstructured":"Ford AL, Chin VW, Fellah S, Binkley MM, Bodin AM, Balasetti V, et al. Lesion evolution and neurodegeneration in RVCL-S: A monogenic microvasculopathy. Neurology. 2020;95(14):e1918\u201331. https:\/\/doi.org\/10.1212\/WNL.0000000000010659.","journal-title":"Neurology"},{"issue":"11","key":"2250_CR3","doi-asserted-by":"publisher","first-page":"2909","DOI":"10.1093\/brain\/aww217","volume":"139","author":"AH Stam","year":"2016","unstructured":"Stam AH, Kothari PH, Shaikh A, Gschwendter A, Jen JC, Hodgkinson S, et al. Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain. 2016;139(11):2909\u201322. https:\/\/doi.org\/10.1093\/brain\/aww217.","journal-title":"Brain"},{"issue":"3","key":"2250_CR4","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1007\/s10875-015-0147-3","volume":"35","author":"GI Rice","year":"2015","unstructured":"Rice GI, Rodero MP, Crow YJ. Human disease phenotypes associated with mutations in TREX1. J Clin Immunol. 2015;35(3):235\u201343. https:\/\/doi.org\/10.1007\/s10875-015-0147-3.","journal-title":"J Clin Immunol"},{"key":"2250_CR5","doi-asserted-by":"publisher","unstructured":"Hardy TA, Young S, Sy JS, Colley AF, Terwindt GM, Ferrari MD, et al. Tumefactive lesions in retinal vasculopathy with cerebral leucoencephalopathy and systemic manifestations (RVCL-S): a role for neuroinflammation? J Neurol Neurosur Ps. 2017:jnnp-2017\u2013316142; doi: https:\/\/doi.org\/10.1136\/jnnp-2017-316142.","DOI":"10.1136\/jnnp-2017-316142"},{"key":"2250_CR6","doi-asserted-by":"publisher","unstructured":"Hedderich DM, Lummel N, Deschauer M, K\u00fcmpfel T, Schuh E, Patzig M, et al. Magnetic Resonance Imaging Characteristics of Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations. Clin Neuroradiol. 2019:https:\/\/doi.org\/10.1007\/s00062-018-0755-4; doi: https:\/\/doi.org\/10.1007\/s00062-018-0755-4.","DOI":"10.1007\/s00062-018-0755-4 10.1007\/s00062-018-0755-4"},{"issue":"9","key":"2250_CR7","doi-asserted-by":"publisher","first-page":"1047","DOI":"10.1136\/jnnp-2012-304498","volume":"84","author":"TA Hardy","year":"2013","unstructured":"Hardy TA, Chataway J. Tumefactive demyelination: an approach to diagnosis and management. J Neurol Neurosur Ps. 2013;84(9):1047\u201353. https:\/\/doi.org\/10.1136\/jnnp-2012-304498.","journal-title":"J Neurol Neurosur Ps"},{"issue":"5","key":"2250_CR8","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1111\/bpa.12178","volume":"24","author":"GR Kolar","year":"2014","unstructured":"Kolar GR, Kothari PH, Khanlou N, Jen JC, Schmidt RE, Vinters HV. Neuropathology and genetics of cerebroretinal vasculopathies. Brain Pathol. 2014;24(5):510\u20138. https:\/\/doi.org\/10.1111\/bpa.12178.","journal-title":"Brain Pathol"},{"issue":"1","key":"2250_CR9","doi-asserted-by":"publisher","first-page":"e55","DOI":"10.1212\/NXI.0000000000000055","volume":"2","author":"E Schuh","year":"2015","unstructured":"Schuh E, Ertl-Wagner B, Lohse P, Wolf W, Mann JF, Lee-Kirsch MA, et al. Multiple sclerosis-like lesions and type I interferon signature in a patient with RVCL. Neurol Neuroimmunol Neuroinflamm. 2015;2(1):e55. https:\/\/doi.org\/10.1212\/NXI.0000000000000055.","journal-title":"Neurol Neuroimmunol Neuroinflamm"},{"issue":"15","key":"2250_CR10","doi-asserted-by":"publisher","first-page":"e1423","DOI":"10.1212\/WNL.0000000000006329","volume":"91","author":"J Raynowska","year":"2018","unstructured":"Raynowska J, Miskin DP, Pramanik B, Asiry S, Anderson T, Boockvar J, et al. Retinal vasculopathy with cerebral leukoencephalopathy (RVCL): A rare mimic of tumefactive MS. Neurology. 2018;91(15):e1423\u20138. https:\/\/doi.org\/10.1212\/WNL.0000000000006329.","journal-title":"Neurology"},{"issue":"4","key":"2250_CR11","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1002\/ana.24583","volume":"79","author":"I Vodopivec","year":"2016","unstructured":"Vodopivec I, Oakley DH, Perugino CA, Venna N, Hedley-Whyte ET, Stone JH. A 44-year-old man with eye, kidney, and brain dysfunction. Ann Neurol. 2016;79(4):507\u201319. https:\/\/doi.org\/10.1002\/ana.24583.","journal-title":"Ann Neurol"}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02250-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-021-02250-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-021-02250-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T05:50:52Z","timestamp":1623217852000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcneurol.biomedcentral.com\/articles\/10.1186\/s12883-021-02250-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,9]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["2250"],"URL":"https:\/\/doi.org\/10.1186\/s12883-021-02250-4","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,9]]},"assertion":[{"value":"22 December 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 June 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the ethics committee of West China Hospital, Sichuan 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 wife of the patient. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"219"}}