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Updated: Sep 22, 2025
Assessment of Vascular Function in Patients With Chronic Kidney Disease
Published on: June 16, 2014
Cerebral Vasoreactivity in a Fabry Disease Patient
Antonio Siniscalchi1, Antonella La Russa2, Piergiorgio Lochner3
1Department of Neurology and Stroke Unit, Annunziata Hospital of Cosenza, Cosenza, Italy.
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 has been reported. Using the transcranial color-coded duplex Doppler (TCCD), we report the case of a Fabry disease (FD) patient with a reduction in the cerebrovascular reactivity of the basilar artery (BA).
Methods:
A 46-year-old male asymptomatic FD patient underwent ultrasound intracranial investigation.
Case Presentation:
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 found to be normal. There was no postural hypotension observed. Otolaryngology and cardiac examinations 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 the basilar artery (BA) was reduced (BHI: 0,56).
Conclusion:
This case suggests an earlier alteration of CVR in the posterior cerebral circulation than in the anterior cerebral circulation in an asymptomatic FD patient. This alteration of CVR may be an earlier marker of FD diagnosis.
