title: The neuroradiological findings in a case of Revesz syndrome.
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.
authors.affiliation: Department of Radiology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10467, USA. meirscheinfeld@hotmail.com
authors.forename: Meir H
authors.initials: MH
authors.lastname: Scheinfeld
authors.forename: Yvonne W
authors.initials: YW
authors.lastname: Lui
authors.forename: Edward A
authors.initials: EA
authors.lastname: Kolb
authors.forename: Harry M
authors.initials: HM
authors.lastname: Engel
authors.forename: William A
authors.initials: WA
authors.lastname: Gomes
authors.forename: Karen M
authors.initials: KM
authors.lastname: Weidenheim
authors.forename: Jacqueline A
authors.initials: JA
authors.lastname: Bello
mesh_terms: D001855:Bone Marrow Diseases / Q000175:diagnosis*; D001927:Brain Diseases / Q000175:diagnosis*; D002675:Child, Preschool; D019871:Dyskeratosis Congenita / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D012163:Retinal Detachment / Q000175:diagnosis*; D013577:Syndrome