Presentation
Follow-up with known chronic condition.
Patient Data
Age: 40 years
Gender: Male
From the case:
Fabry disease
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There are moderate periventricular and deep white matter patchy T2 signal abnormality suggesting chronic small vessel ischaemic 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 ischaemic damage to small vessels.
Ischaemic 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 characterised by dolichoectasia of the basilar artery.