Fabry disease

Case contributed by Nikolay Balabin
Diagnosis certain

Presentation

Follow-up with known chronic condition.

Patient Data

Age: 40 years
Gender: Male
mri

There are moderate periventricular and deep white matter patchy T2 signal abnormality suggesting chronic small vessel ischemic changes.

There is a postischemic lacuna in the deep white matter of the right parietal region.

Mild vascular ectasia of the basilar artery noted.

Case Discussion

This patient has confirmed Fabry disease. 

The main manifestation in the CNS is ischemic damage to small vessels.
Ischemic strokes are a consequence of these changes.

Hyperintensity in the white matter of the cerebral hemispheres may be accompanied by multi-infarct dementia, however, most patients remain asymptomatic.

Also, this disease is characterized by dolichoectasia of the basilar artery.

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