Magnetic resonance imaging changes in Fabry disease

Acta Paediatr Suppl. 2006 Apr;95(451):57-62. doi: 10.1080/08035320600618908.

Abstract

Recognized magnetic resonance imaging (MRI) abnormalities in the brains of patients with Fabry disease include the consequences of infarction and haemorrhage, non-specific white and grey matter lesions, vascular anomalies, in particular dolicho-ectasia, and a characteristic appearance of the posterior thalamus. A preliminary analysis of MRI findings in patients registered in FOS, the Fabry Outcome Survey, indicates that most patients had abnormal scans (25/47). The commonest abnormality, in males and females, was the presence of cerebral white matter lesions, the number of which increased with patient age.

Conclusion: MRI is a valuable resource for assessing the CNS complications of Fabry disease, and their response to time and treatment.

Publication types

  • Review

MeSH terms

  • Brain / pathology*
  • Brain Stem / pathology
  • Cerebral Infarction / pathology
  • Fabry Disease / pathology*
  • Humans
  • Magnetic Resonance Imaging