• Pediatric radiology · Nov 2007

    Case Reports

    The neuroradiological findings in a case of Revesz syndrome.

    • Meir H Scheinfeld, Yvonne W Lui, Edward A Kolb, Harry M Engel, William A Gomes, Karen M Weidenheim, and Jacqueline A Bello.
    • Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA. meirscheinfeld@hotmail.com
    • Pediatr Radiol. 2007 Nov 1; 37 (11): 1166-70.

    AbstractRevesz syndrome is a variant of dyskeratosis congenita characterized by aplastic anemia, retinopathy, and central nervous system abnormalities. We describe a 3-year-old boy in whom the spectrum of neuroimaging findings, including intracranial calcifications, cerebellar hypoplasia and unusual brain lesions were found by biopsy to be gliosis despite their enhancement and progression. In patients with dyskeratosis-related syndromes, non-neoplastic parenchymal brain lesions occur and gliosis should be considered in the differential diagnosis for progressive enhancing brain lesions. Should this finding be confirmed consistently in additional cases, brain biopsy could potentially be avoided.

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