5.4. Clinical Presentations of Fabry Disease: Cerebrovascular/Neurologic - Pediatrics: Spot the Early Signs of Rare Diseases


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What can be seen in these images in older patients is white spots. The image at the top is of a normal brain. The white spots on the images of people with Fabry Disease are signs of vascular insufficiency and damage to the brain. You can also see strokes in individuals with Fabry Disease. The strokes are referred to as ‘earlier’ although most occur in adulthood but at a younger age than is typical for adults. There are some cases of pediatric strokes reported, but this is seen in less than 1% of children with Fabry Disease.

 

 

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