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, Jacqueline A. Bello

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1166-1170
Number of pages5
JournalPediatric radiology
Volume37
Issue number11
DOIs
StatePublished - Nov 2007

Keywords

  • Aplastic anemia
  • Child
  • Dyskeratosis congenita
  • Revesz syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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