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Cerebral vasoreactivity in a Fabry's Disease patient.

BACKGROUND
Fabry disease (FD) is a rare X-linked multisystem lysosomal storage disease caused by partial or total deficiency of a-galactosidase A (GLA). A progressive involvement of the kidneys, heart, and brain arteries was reported. Using the transcranial color-coded duplex Doppler (TCCD), we report the case of Fabry's disease (FD) patients with a reduction in the cerebrovascular reactivity of the basilar artery (BA).


METHODS
A 46 -year-old man asymptomatic FD patient underwent ultrasound intracranial investigations Case Report: We report the case of a 46 -year-old man affected by asymptomatic FD who presented to our observation for episodes of vertigo. Cerebral MRI and AngioMRI were normal. There was no postural hypotension. Otolaryngology and cardiac exmaninations revealed no pathological condition. A TCCD showed normal cerebral vascular reactivity (CVR) in the bilateral middle cerebral arteries (MCA), Breath-Holding Index (BHI) was 1.3 in the right MCA (RMCA) and 1.4 in left MCA (LMCA), and BHI in basilar artery (BA) was reduced (BHI: 0,56).


CONCLUSION
This case suggests in an asymptomatic FD patient an earlier alteration of CVR in the posterior cerebral circulation than in the anterior cerebral circulation. This alteration of CVR may be be an earlier marker of FD diagnosis.