Login Register Cart 0
Generic placeholder image

Current Medical Imaging

Editor-in-Chief

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

Back
Journal Home About Journal Editorial Board Journal Insight Current Issue Volumes/Issues
Subscribe
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

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.

[1]
Viana-Baptista M. Stroke and Fabry disease. J Neurol 2012; 259(6): 1019-28.
[http://dx.doi.org/10.1007/s00415-011-6278-4] [PMID: 22037950]
[2]
Buechner S, Moretti M, Burlina AP, et al. Central nervous system involvement in Anderson-Fabry disease: A clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry 2008; 79(11): 1249-54.
[http://dx.doi.org/10.1136/jnnp.2008.143693] [PMID: 18535022]
[3]
Salviati A, Burlina AP, Borsini W. Nervous system and fabry disease, from symptoms to diagnosis: Damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy. Neurol Sci 2010; 31(3): 299-306.
[http://dx.doi.org/10.1007/s10072-009-0211-y] [PMID: 20300794]
[4]
Kolodny E, Fellgiebel A, Hilz MJ, et al. Cerebrovascular involvement in Fabry disease: Current status of knowledge. Stroke 2015; 46(1): 302-13.
[http://dx.doi.org/10.1161/STROKEAHA.114.006283] [PMID: 25492902]
[5]
Manara R, Carlier RY, Righetto S, et al. Basilar artery changes in fabry disease. AJNR Am J Neuroradiol 2017; 38(3): 531-6.
[http://dx.doi.org/10.3174/ajnr.A5069] [PMID: 28126747]
[6]
Siniscalchi A, Malferrari G. The role of transcranial doppler ultrasonography in differential diagnosis of vertigo in the emergency depart-ment. ECJ 2019; 15(3): 92-6.
[http://dx.doi.org/10.4081/ecj.2019.8341]
[7]
Malferrari G, Pulito G, Pizzini AM, et al. MicroV technology to improve transcranial color coded doppler examinations. J Neuroimaging 2018; 28(4): 350-8.
[http://dx.doi.org/10.1111/jon.12517] [PMID: 29727515]
[8]
Siniscalchi A, Gray C, Malferrari G. Ultrasound diagnostic method in vascular dementia: Current concepts. Curr Med Imaging Rev 2021; 17(4): 507-12.
[http://dx.doi.org/10.2174/1573405616999201008145106] [PMID: 33032514]
[9]
Zavoreo I, Demarin V. Breath holding index in the evaluation of cerebral vasoreactivity. Acta Clin Croat 2004; 43: 15-9.
[10]
Krejza J, Baumgartner RW. Clinical applications of transcranial color-coded duplex sonography. J Neuroimaging 2004; 14(3): 215-25.
[http://dx.doi.org/10.1111/j.1552-6569.2004.tb00241.x] [PMID: 15228761]
[11]
Gupta A, Chazen JL, Hartman M, et al. Cerebrovascular reserve and stroke risk in patients with carotid stenosis or occlusion: A systematic review and meta-analysis. Stroke 2012; 43(11): 2884-91.
[http://dx.doi.org/10.1161/STROKEAHA.112.663716] [PMID: 23091119]
[12]
Zhang W, Yin Y, Zhang Y, et al. Influence of cerebrovascular reactivity on outcome of the patients with ≥50% symptomatic unilateral mid-dle cerebral artery stenosis. Int J Neurosci 2018; 128(1): 42-7.
[http://dx.doi.org/10.1080/00207454.2017.1357552] [PMID: 28724339]
[13]
Zarate YA, Hopkin RJ. Fabry’s disease. Lancet 2008; 372(9647): 1427-35.
[http://dx.doi.org/10.1016/S0140-6736(08)61589-5] [PMID: 18940466]
[14]
Crutchfield KE, Patronas NJ, Dambrosia JM, et al. Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 1998; 50(6): 1746-9.
[http://dx.doi.org/10.1212/WNL.50.6.1746] [PMID: 9633721]
[15]
Fellgiebel A, Keller I, Marin D, et al. Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 2009; 72(1): 63-8.
[http://dx.doi.org/10.1212/01.wnl.0000338566.54190.8a] [PMID: 19122032]
[16]
Vagli C, Fisicaro F, Vinciguerra L, et al. Cerebral hemodynamic changes to transcranial doppler in asymptomatic patients with fabry’s dis-ease. Brain Sci 2020; 10(8): 546.
[http://dx.doi.org/10.3390/brainsci10080546] [PMID: 32806660]
[17]
Castro P, Gutierres M, Pereira G, Ferreira S, Oliveira JP, Azevedo E. Evaluation of cerebral microvascular regulatory mechanisms with tran-scranial doppler in fabry disease. Brain Sci 2020; 10(8): 528.
[http://dx.doi.org/10.3390/brainsci10080528] [PMID: 32784589]
[18]
Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry Registry. Stroke 2009; 40(3): 788-94.
[http://dx.doi.org/10.1161/STROKEAHA.108.526293] [PMID: 19150871]
[19]
Gregoire SM, Brown MM, Collas DM, Jacob P, Lachmann RH, Werring DJ. Posterior circulation strokes without systemic involvement as the presenting feature of Fabry disease. J Neurol Neurosurg Psychiatry 2009; 80(12): 1414-6.
[http://dx.doi.org/10.1136/jnnp.2008.158790] [PMID: 19917829]
[20]
Moore DF, Kaneski CR, Askari H, Schiffmann R. The cerebral vasculopathy of Fabry disease. J Neurol Sci 2007; 257(1-2): 258-63.
[http://dx.doi.org/10.1016/j.jns.2007.01.053] [PMID: 17362993]

Rights & Permissions Print Cite
Article Metrics
5
© 2024 Bentham Science Publishers | Privacy Policy