A 44-year-old man with eye, kidney, and brain dysfunction.
Ann Neurol
; 79(4): 507-19, 2016 Apr.
Article
em En
| MEDLINE
| ID: mdl-26691497
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfoproteínas
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Doenças Retinianas
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Doenças Vasculares
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Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central
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Insuficiência Renal Crônica
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Exodesoxirribonucleases
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article