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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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Republished from Neurology 2013;81(20):e151-e152. doi: 10.1212/01.wnl.0000435557.21319.ad
Download teaching slides: 10.1212/01.wnl.0000435557.21319.ad
- © 2013 American Academy of Neurology
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