Brain and liver iron accumulation in aceruloplasminemia.

A 68-year-old woman with diabetes, anemia, and retinal degeneration developed mild cognitive impairment and subtle gait ataxia. Her parents were nonconsanguineous, and her sister had diabetes. T2*-weighted brain MRI showed symmetric hypointensity in the striatum, thalamus, red nucleus, and dentate nucleus, and on the brain surface, more prominently on high-field imaging (figure 1). Liver MRI demonstrated marked signal attenuation (figure 2). Serum ceruloplasmin was undetectable, and genetic testing revealed a homozygous mutation (p.W858X) Figure 1 Brain MRI