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Parks, Natalie E; Vandorpe, Robert A; Moeller, Jeremy J
Neurology, 2013-Nov-12, Volume: 81, Issue: 20Journal Article
A 55-year-old African Canadian man with insulin-dependent diabetes mellitus and alcohol abuse presented with diabetic ketoacidosis. Progressive cognitive decline over the previous 5 years resulted in long-term care placement. Aside from pigmentary retinopathy, general examination was unremarkable. MRI demonstrated iron accumulation in the brain (figure 1) and liver (figure 2A). Ceruloplasmin, a ferroxidase enzyme important in iron homeostasis, was undetectable and associated with low serum iron, low serum copper, and 10-fold increase in serum ferritin. Liver biopsy confirmed increased hepatocyte iron storage (figure 2B). Aceruloplasminemia was diagnosed.(1,2) Iron chelation was not administered given advanced dementia at presentation.
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