Title:Cerebral Vasoreactivity in a Fabry Disease Patient
Volume: 18
Author(s): Antonio Siniscalchi*, Antonella La Russa, Piergiorgio Lochner, Alfredo Petrone and Bina Russo
Affiliation:
- Department of Neurology and Stroke Unit, Annunziata Hospital of Cosenza, Cosenza, Italy
Keywords:
Cerebral vascular reactivity, basilar artery, breath-holding index, Fabry disease, middle cerebral artery, transcranial color-coded duplex Doppler.
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.
