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Case Reports
. 2010 Sep 28;75(13):1211-3.
doi: 10.1212/WNL.0b013e3181f4d7ac.

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation

F J Mateen  1 , K Krecke, B R Younge, A L Ford, A Shaikh, P H Kothari, J P Atkinson
Affiliations
Case Reports

Evolution of a tumor-like lesion in cerebroretinal vasculopathy and TREX1 mutation

F J Mateen et al. Neurology. .
No abstract available

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Figure Brain and retinal imaging in a patient with cerebroretinal vasculopathy Sequential axial MRI showing an ovoid T2-hyperintense (A) and gadolinium-enhancing (B) lesion (2.1 × 1 cm), abutting the frontal horn of the right lateral ventricle, bright on both diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC) map. At 6 months, a larger, more aggressive-appearing lesion (2 × 2 × 3 cm) with surrounding edema occupied the right frontal lobe. There was a central zone of presumed necrosis and gadolinium enhancement of the lesion rim (C, D). Diffusion imaging showed more heterogeneous signal, without the characteristic bright DWI and dark ADC signal of acute infarction. At 12 months, the lesion approximated its size on initial imaging (1.4 × 1.2 × 0.9 cm) with a persistent rim pattern of enhancement (E, F). At 18 months, the lesion further decreased in size (1.1 × 0.9 × 0.3 cm) with near resolution of the surrounding edema. Fluorescein angiography and indocyanine green with corresponding color photographs of the retina show views of the macula of the right eye (G–I). Periarteriolar narrowing and sheathing, focal leakage, telangiectasias, and cotton wool spots are present.
See this image and copyright information in PMC

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References

    1. Grand MG, Kaine J, Fulling K, et al. Cerebroretinal vasculopathy: a new hereditary syndrome. Ophthalmology 1988;95:649–659. - PubMed
    1. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet 2007; 39:1068–1070. - PubMed
    1. Entrez-Pubmed Gene References into Function. Available at: http://www.ncbi.nlm.nih.gov/sites/entrez?cmd_current=&db=gene&orig_db=ge.... Accessed August 30, 2009.
    1. Mazur DJ, Perrino FW. Identification and expression of the TREX1 and TREX2 cDNA sequences encoding mammalian 3′->5′ exonucleases. J Biol Chem 1999;274:19655–19660. - PubMed
    1. Chowdhury D, Beresford PJ, Zhu P, et al. The exonuclease TREX1 is in the SET complex and acts in concert with NM23-H1 to degrade DNA during granzyme A-mediated cell death. Mol Cell 2006;23:133–142. - PubMed

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