A 44‐year‐old man with eye, kidney, and brain dysfunction
Identifieur interne : 000E38 ( Main/Curation ); précédent : 000E37; suivant : 000E39A 44‐year‐old man with eye, kidney, and brain dysfunction
Auteurs : Ivana Vodopivec [États-Unis] ; Derek H. Oakley [États-Unis] ; Cory A. Perugino [États-Unis] ; Nagagopal Venna [États-Unis] ; E. Tessa Hedley-Whyte [États-Unis] ; John H. Stone [États-Unis]Source :
- Annals of Neurology [ 0364-5134 ] ; 2016-04.
Abstract
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX1 (3‐prime repair exonuclease‐1). 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 disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy. Ann Neurol 2016;79:507–519
Url:
DOI: 10.1002/ana.24583
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<front><div type="abstract">Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, autosomal dominant condition caused by mutations of TREX1 (3‐prime repair exonuclease‐1). 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 disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy. Ann Neurol 2016;79:507–519</div>
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