Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome

Neurology. 1999 Aug 11;53(3):629-31. doi: 10.1212/wnl.53.3.629.

Abstract

We report a 35-year-old man with hereditary cerebroretinal vasculopathy (CRV) characterized by retinal microvascular changes and a right frontal intracerebral mass lesion that suggested a brain tumor. Histopathologic analysis of the patient's brain lesion as well as reviewed specimens of the patient's mother, who had reportedly died of a brain tumor, showed no neoplasia but did show cerebral microvasculopathy. CRV should be considered as a differential diagnosis for patients with intracerebral mass lesions, retinal vascular changes, and a positive family history of "brain tumors."

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain Neoplasms / pathology*
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Retinal Diseases / genetics*
  • Retinal Diseases / pathology*
  • Retinal Vessels / pathology*
  • Syndrome