Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload.

Abstract

Aceruloplasminemia is a rare autosomal recessive disorder of iron accumulation in the brain. It is one of the subtypes of Neurodegeneration with brain iron accumulation and is characterized by the uniform involvement of all basal ganglia, thalami, dentate nuclei, and cortex. Aceruloplasminemia is the only known iron overload disorder in which brain and systemic iron overload are combined. Here, we present a 53-year-old female who had progressive cognitive disorders with motor deficits. MRI showed extensive and abundant iron deposited in the brain and in the liver.

• Authors: Firdaous Touarsa, Daoud Ali Mohamed, Behyamet Onka, Soufiane Rostoum, Najwa Ech-Cherif El Kettani, Meriem Fikri, Mohamed Jiddane
• Journal: BJR case reports (BJR Case Rep) Vol. 8 Issue 5 Pg. 20220035 (Sep 12 2022) ISSN: 2055-7159 [Electronic] England
• PMID: 36211608 (Publication Type: Case Reports)
• Copyright: © 2022 The Authors. Published by the British Institute of Radiology.