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Acta Paediatr Suppl. 2006 Apr;95(451):57-62.

Magnetic resonance imaging changes in Fabry disease.

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  • 1Department of Neurology, Royal Free Hospital, London, UK.


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.


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

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