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Current Medical Imaging

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ISSN (Print): 1573-4056
ISSN (Online): 1875-6603

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Case Report

Cerebral Vasoreactivity in a Fabry Disease Patient

Author(s): Antonio Siniscalchi*, Antonella La Russa, Piergiorgio Lochner, Alfredo Petrone and Bina Russo

Volume 18, Issue 13, 2022

Published on: 01 August, 2022

Article ID: e180522204961 Pages: 4

DOI: 10.2174/1573405618666220518101844

Price: $65

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Abstract

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.

Keywords: Cerebral vascular reactivity, basilar artery, breath-holding index, Fabry disease, middle cerebral artery, transcranial color-coded duplex Doppler.

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