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Fabry Disease: A Disorder of Childhood Onset

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Presentation on theme: "Fabry Disease: A Disorder of Childhood Onset"— Presentation transcript:

1 Fabry Disease: A Disorder of Childhood Onset
Raphael Schiffmann, MD, MHSc, Markus Ries, MD, PhD, MHSc  Pediatric Neurology  Volume 64, Pages (November 2016) DOI: /j.pediatrneurol Copyright © 2016 Elsevier Inc. Terms and Conditions

2 Figure 1 Angiokeratoma on the back of a male patient. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 10-20DOI: ( /j.pediatrneurol ) Copyright © 2016 Elsevier Inc. Terms and Conditions

3 Figure 2 Cornea verticillata in a heterozygote female with Fabry disease. Courtesy Dr. Janine Smith. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 10-20DOI: ( /j.pediatrneurol ) Copyright © 2016 Elsevier Inc. Terms and Conditions

4 Figure 3 T1-weighted magnetic resonance imaging of the brain of a 28-year-old man with a history of repeated strokes since age 14 years despite three years of enzyme replacement. Old lacunar infarcts are seen, including internal capsule, right thalamus, and a more recent lacunar infarct in the proximal right optic radiations. (The color version of this figure is available in the online edition.) Pediatric Neurology  , 10-20DOI: ( /j.pediatrneurol ) Copyright © 2016 Elsevier Inc. Terms and Conditions


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