Neurodegeneration with brain iron accumulation

Case contributed by Utkarsh Kabra
Diagnosis probable

Presentation

Dystonia, muscular rigidity and spasticity.

Patient Data

Age: 8 years
Gender: Male
This study is a stack
Axial
T2
This study is a stack
Axial
T1
This study is a stack
Axial
FLAIR
This study is a stack
Coronal
T2
This study is a stack
Axial
Gradient Echo
This study is a stack
Axial
DWI
This study is a stack
Sagittal
T1
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Info

T2 hypointensity is seen involving bilateral globi pallidi and substantia nigra, which is better highlighted by GRE images.

Cerebellar atrophy is seen with prominence of cerebellar folia.

Case Discussion

Above findings are suggestive of bilateral globi pallidi and substantia nigra mineralization, likely iron deposition secondary to neurodegeneration with brain iron accumulation.

This explains the patients symptoms of dystonia, muscular rigidity, and spasticity.

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