Fabry disease

Case contributed by A.Prof Frank Gaillard

Presentation

Follow-up of a known chronic condition.

Patient Data

Age: 45
Gender: Male
MRI

There are no intra- or extra-axial mass lesions, acute hemorrhages or collections. No acute or established infarcts. There continues to be a moderate extent of bi-hemispheric chronic white matter ischemic change, stable compared to previous MRI. A punctate focus of non-specific susceptibility blooming is again noted along the anterior margin of the left hemi-pons.

Mild vascular ectasia of the vertebrobasilar system and posterior cerebral arteries again noted without any focal intracranial aneurysm formation.

Case Discussion

This patient has confirmed Fabry disease. 

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Case information

rID: 28041
Published: 8th Mar 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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