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