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A 44-Year-Old Man with Eye, Kidney, and Brain Dysfunction
Ann Neurol 79:507-519, Vodopivec, I.,et al, 2016
See this aricle in Pubmed

Article 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 patients 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 Behcet disease. Clinicians should consider RVCL in any patient with retinal capillary obliterations associated with tumefactive brain lesions or nephropathy.
 
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apraxia
brain biopsy
calcification,intracranial
cerebral edema,vasogenic
cerebrovascular accident
confusion
emergencies,ocular
fluorescein angiography
genetic neurologic disorders
headache
hemiparesis
leukodystrophy
MRI,abnormal
MRI,disappearing lesion on
optic atrophy
renal failure
retinal ischemia
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retinal vasculitis
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retinal vasculopathy with cerebral leukodystrophy
retinopathy
steroid therapy,CNS treatment and complications with
systemic illness
uveitis
visual field defect
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