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Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron
Firdaous Touarsa1, Daoud Ali Mohamed2, Behyamet Onka2
1Department of Neuroradiology, University Hospital Ibn Sina, Rabat, Morocco.
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.
Insights
Aceruloplasminemia, a rare iron overload disorder, causes brain and systemic iron accumulation. This case highlights progressive cognitive and motor decline due to extensive iron deposition in the brain and liver.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Aceruloplasminemia is a rare autosomal recessive disorder.
- It is a subtype of Neurodegeneration with Brain Iron Accumulation (NBIA).
- Characterized by iron accumulation in the basal ganglia, thalami, dentate nuclei, and cortex.
Observation:
- A 53-year-old female presented with progressive cognitive decline and motor deficits.
- Magnetic Resonance Imaging (MRI) revealed extensive iron deposition in the brain.
- MRI also showed significant iron accumulation in the liver.
Findings:
- The patient's symptoms correlated with widespread iron deposition in key brain structures.
- Combined brain and systemic iron overload was evident, consistent with Aceruloplasminemia.
- The findings underscore the diagnostic utility of MRI in NBIA subtypes.
Implications:
- This case expands the understanding of Aceruloplasminemia's clinical presentation.
- Highlights the importance of recognizing combined neurological and systemic iron overload.
- Suggests the need for early diagnosis and management strategies for iron overload disorders.
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