BRAIN IRON ACCUMULATION: DON’T FORGET ACERULOPLASMINEMIA

Abstract

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.