Paola Feraco, Alberto Conficoni, Benedetto Petralia, Pierluigi Lanza
Aceruloplasminemia is a rare autosomal recessive disease, affecting iron metabolism, with typical onset in adulthood. It is brought about by mutations in the ceruloplasmin gene. Laboratory investigations reveal microcytic anemia, elevated serum ferritin, and a complete absence of serum ceruloplasmin ferroxidase activity. Clinical manifestations reflect the specific locations of neurodegeneration and iron deposition. Neuroradiological findings, characterized by symmetric “blooming” hypointense deposits on T2-weighted and T2*-weighted sequences in the basal ganglia, thalamus and cerebellum (especially dentate nucleus), are an exclusive feature of aceruloplasminemia. We report a case of a 52-year-old man who underwent MR exam to further characterize a diagnosis of AP which showed typical iron deposition and unusual T2-weighted/FLAIR hypointensities in the subcortical white matter U fibers, suggesting that brain iron accumulation can be more extensive than previously believed.