Fabry disease

  • Diagnosed after 20 years of age
  • Neurological involvement common
  • Cerebrovascular events – transient ischemic attacks, strokes, chronic cerebral vasculopathy, vessel ectasia in posterior circulation
  • MRI
    • Periventricular and subcortical white matter hyperintensities, microbleeds, lacunar infarcts
    • Increased basilar artery diameter
    • Pulvinar sign – exclusive involvement of lateral pulvinar with symmetrical T1 hyperintensity on plain MRI. Rare feature.
Read more

Gavazzi, Cinzia, et al. “Subcortical damage and cortical functional changes in men and women with Fabry disease: a multifaceted MR study.” Radiology 241.2 (2006): 492-500.

Schermuly, I., et al. “Neuropsychiatric symptoms and brain structural alterations in Fabry disease.” European journal of neurology 18.2 (2011): 347-353.