Teaching NeuroImages: neurodegeneration with brain iron accumulation in aceruloplasminemia

Neurology. 2013 Nov 12;81(20):e151-2. doi: 10.1212/01.wnl.0000435557.21319.ad.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Brain / metabolism*
  • Ceruloplasmin / deficiency*
  • Humans
  • Iron / metabolism*
  • Iron Metabolism Disorders / complications*
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Neurodegenerative Diseases / complications*
  • Neurodegenerative Diseases / etiology
  • Neurodegenerative Diseases / metabolism
  • Neurodegenerative Diseases / pathology

Substances

  • Iron
  • Ceruloplasmin

Supplementary concepts

  • Familial apoceruloplasmin deficiency