A 44-year-old man with eye, kidney, and brain dysfunction
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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.
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.
Citable link to this pagehttp://nrs.harvard.edu/urn-3:HUL.InstRepos:37045423
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