Aceruloplasminemia: MRI and Biochemical Profile Clue to Early Diagnosis in an Adolescent

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

Note

This work should be attributed to Department of Radiology, Department of Neurology, and Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi.

Publication History

Received: 09 June 2021

Accepted: 25 September 2021

Article published online:
29 October 2021

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