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01-11-2007 | Case Report

The neuroradiological findings in a case of Revesz syndrome

Authors: Meir H. Scheinfeld, Yvonne W. Lui, Edward A. Kolb, Harry M. Engel, William A. Gomes, Karen M. Weidenheim, Jacqueline A. Bello

Published in: Pediatric Radiology | Issue 11/2007

Abstract

Revesz 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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Title: The neuroradiological findings in a case of Revesz syndrome
Authors: Meir H. Scheinfeld
Yvonne W. Lui
Edward A. Kolb
Harry M. Engel
William A. Gomes
Karen M. Weidenheim
Jacqueline A. Bello
Publication date: 01-11-2007
Publisher: Springer-Verlag
Published in: Pediatric Radiology / Issue 11/2007
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI: https://doi.org/10.1007/s00247-007-0592-0

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The neuroradiological findings in a case of Revesz syndrome

Abstract

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