ChloroquineV1, Main, Exploration, bibRecord, 000E38

A 44‐year‐old man with eye, kidney, and brain dysfunction

Identifieur interne : 000E38 ( Main/Exploration ); précédent : 000E37; suivant : 000E39

A 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.

RBID : ISTEX:CC0F8A3A4C8D24EF65D2CC6EDF036E5332ED3471

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:

https://api.istex.fr/ark:/67375/WNG-1K36PQ5K-X/fulltext.pdf

DOI: 10.1002/ana.24583

Affiliations:

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to stream Istex, to step Corpus: 000B62
to stream Istex, to step Curation: 000B62
to stream Istex, to step Checkpoint: 000057
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to stream Main, to step Curation: 000E38

Le document en format XML

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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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A 44‐year‐old man with eye, kidney, and brain dysfunction

A 44‐year‐old man with eye, kidney, and brain dysfunction

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Abstract

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Le document en format XML

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