Genetic Mutations in Stroke
Lessons
Course Content
Summary – Fabry Disease
Male, 45 yo
Transient global amnesia, longstanding parasthesias
Family history for stroke (at a young age)
Renal and heart impairment
Angiokeratomas
MRI: ”pulvinar” sign
Decreased alpha-galactosidase activity
Enzyme replacement therapy: Agalsidase-beta (FabrazymeTM)
Case is illustrative example of atypical presentation of Fabry disease