Fabry disease

Case contributed by Frank Gaillard
Diagnosis almost certain

Presentation

Follow-up of a known chronic condition.

Patient Data

Age: 45 years
Gender: Male
mri
This study is a stack
Axial
FLAIR
This study is a stack
Axial
T2
This study is a stack
Axial
Gradient Echo
This study is a stack
Axial
DWI
This study is a stack
Sagittal
T1
This study is a stack
MRA
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Info

A moderate amount of bi-hemispheric chronic white matter ischemic change, much more than expected in a 45-year-old. A punctate focus of non-specific susceptibility blooming is noted along the anterior margin of the left hemi-pons.

Mild vascular ectasia of intracranial arterial circulation, particularly of the basilar artery. No aneurysmal dilatation.

Case Discussion

This patient has confirmed Fabry disease

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