Susac's Syndrome
32-year-old woman with confusion, vision distortion, scotoma and hearing loss.
- Susac's syndrome is a self-limited syndrome, likely autoimmune, characterized by microangiopathy.
Fabry's Disease
47-year-old man with history of seizure, peripheral neuropathy, skin lesion, visual changes, cardiac murmur and proteinuria.
- Fabry's disease is a multisystem X-linked disorder of glycosphingolipid metabolism with deficient activity of α-Galactosidase A, leading to progressive accumulation of glycosphingolipid in vascular endothelium, perithelium, smooth muscle cells, brain, peripheral nerves, heart, skin and kidneys.
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