Hemochromatosis - CNS manifestations

Case contributed by Hernán Walter Brouver de Koning
Diagnosis certain

Presentation

Ataxia and gait difficulty.

Patient Data

Age: 55 years
Gender: Male
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Info

The study is normal for age with small hyperdensities in globus pallidum commonly seen in this age group. 

This study is a stack
Axial
Gradient Echo
This study is a stack
Axial
T2
This study is a stack
Axial
T1
This study is a stack
Axial
T2
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Info

T2*-weighted brain imaging shows striking extensively dark choroid plexus, not appreciated on conventional T2 fast spin echo sequence which appears unremarkable. No cerebellopontine angle masses or other focal abnormality. 

Subtle T1 bilateral hyperintensities in basal ganglia.

This study is a stack
Coronal
T2
This study is a stack
Axial
T2
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Info

Markedly hypointense liver in T2 weighted images. Caudate and left lobe hypertrophy. Surface nodularity.

The images have characteristic features of a cirrhotic T2 hypointense liver consistent with hemochromatosis (histologically proved).

Case Discussion

T2* weighted brain MRI detects iron overloading in patients with hemochromatosis as consequence of uptake it from the blood.

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