Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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June 7, 2010
Fabry's Disease
- 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.
- The disorder is characterized clinically by angiokeratoma of skin, peripheral neuropathy (acroparesthesias, neuropathic pain), cardiac dysfunction, renal failure, corneal and lenticular abnormalities, stroke and seizure.
- Symmetric hyperintensity in the pulvinar on T1WI, reported as the pulvinar sign is highly suggestive of Fabry's disease. Periventricular white matter ischemic rarefaction is a common finding.
- Calcification of globus pallidi, thalami and cerebellar dentate nuclei can be seen in Fabry's disease as well as other disease processes such as SLE, Fahr syndrome, hyper- or hypocalcemic states, mineralizing angiopathy, and Cockayne syndrome.
- Treament is limited to enzyme replacement with Fabrazyme.