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dc.contributor.authorVodopivec, Ivana
dc.contributor.authorOakley, Derek Hayden
dc.contributor.authorPerugino, Cory Adam
dc.contributor.authorVenna, Nagagopal
dc.contributor.authorHedley-Whyte, E. Tessa
dc.contributor.authorStone, John H
dc.date.accessioned2018-05-23T20:15:06Z
dc.date.issued2016
dc.identifierQuick submit: 2017-03-22T11:00:31-0400
dc.identifier.citationVodopivec, Ivana, Derek H. Oakley, Cory A. Perugino, Nagagopal Venna, E. Tessa Hedley-Whyte, and John H. Stone. 2016. “A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction.” Annals of Neurology 79 (4) (March 7): 507–519. doi:10.1002/ana.24583.en_US
dc.identifier.issn0364-5134en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:37045423
dc.description.abstractRetinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of the three-prime repair exonuclease-1 (TREX1). The phenotypic expressions range from isolated retinal involvement to varying degrees of retinopathy, cerebral infarction with calcium depositions, nephropathy, and hepatopathy. We report a case of RVCL caused by a novel TREX1 mutation. This patient’s multisystem presentation, retinal involvement interpreted as “retinal vasculitis”, and improvement of neuroimaging abnormalities with dexamethasone led to the accepted diagnosis of a rheumatologic disorder resembling Behçet’s disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy.en_US
dc.language.isoen_USen_US
dc.publisherWiley-Blackwellen_US
dc.relation.isversionof10.1002/ana.24583en_US
dc.relation.hasversionhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858325/en_US
dash.licenseOAP
dc.titleA 44-year-old man with eye, kidney, and brain dysfunctionen_US
dc.typeJournal Articleen_US
dc.date.updated2017-03-22T15:00:33Z
dc.description.versionAccepted Manuscripten_US
dc.relation.journalAnnals of Neurologyen_US
dash.depositing.authorHedley-Whyte, E. Tessa
dc.date.available2016
dc.date.available2018-05-23T20:15:06Z
dc.identifier.doi10.1002/ana.24583*
dash.contributor.affiliatedPerugino, Cory
dash.contributor.affiliatedVodopivec, Ivana
dash.contributor.affiliatedVenna, Nagagopal
dash.contributor.affiliatedOakley, Derek
dash.contributor.affiliatedStone, John
dash.contributor.affiliatedHedley-Whyte, E.


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