Radiological evidence of early cerebral microvascular disease in young children with Fabry disease

J Pediatr. 2005 Jul;147(1):102-5. doi: 10.1016/j.jpeds.2005.03.004.


We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to avoid irreversible complications.

Publication types

  • Case Reports

MeSH terms

  • Cerebrovascular Disorders / pathology*
  • Child
  • Fabry Disease / pathology*
  • Humans
  • Magnetic Resonance Imaging*
  • Male
  • Microcirculation