Abstract
Aceruloplasminemia (ACP) is a rare autosomal recessive genetic disorder with systemic
and brain iron overload, secondary to ceruloplasmin gene mutation, usually presents in adults with neurological manifestations. An abnormal
biochemical profile may be the only clue in an adolescent patient, that is, microcytic
anemia, low transferrin saturation, hyperferritinemia, and should warrant a possible
diagnosis of ACP, which can be established by low serum ceruloplasmin levels and appropriate
genetic testing. We present a case of an adolescent patient in whom ACP was suspected
when brain magnetic resonance imaging showed iron overload in basal ganglia, thalami,
red nuclei, dentate nuclei, and choroid plexus and later on confirmed by biochemical
profile. The final diagnosis was confirmed by the presences of a novel mutation on
genetic analysis. To the best of our knowledge, our case is the second description
of ACP with choroid plexus hemosiderosis.
We proposed in this article that the combination of parenchymal and choroid plexus
iron overload should prompt the suspicion of ACP.
Keywords
aceruloplasminemia - choroid plexus hemosiderosis - NBIA - microcytic anemia
