Hemochromatosis - CNS manifestations

Case contributed by Hernán Walter Brouver de Koning
Diagnosis certain


Ataxia and gait difficulty.

Patient Data

Age: 55 years
Gender: Male

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

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.

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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