PMID- 35593334
OWN - NLM
STAT- MEDLINE
DCOM- 20221026
LR  - 20230124
IS  - 1573-4056 (Electronic)
VI  - 18
IP  - 13
DP  - 2022
TI  - Cerebral Vasoreactivity in a Fabry Disease Patient.
PG  - 1443-1446
LID - 10.2174/1573405618666220518101844 [doi]
AB  - 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.
CI  - Copyright(c) Bentham Science Publishers; For any queries, please email at 
      epub@benthamscience.net.
FAU - Siniscalchi, Antonio
AU  - Siniscalchi A
AD  - Department of Neurology and Stroke Unit, Annunziata Hospital of Cosenza, Cosenza, 
      Italy.
FAU - La Russa, Antonella
AU  - La Russa A
AD  - Department of Experimental and Clinical Medicine, Magna Graecia University, 
      Catanzaro, Italy.
FAU - Lochner, Piergiorgio
AU  - Lochner P
AD  - Department of Neurology, Saarland University Medical Center, Homburg, Germany.
FAU - Petrone, Alfredo
AU  - Petrone A
AD  - Department of Neurology and Stroke Unit, Annunziata Hospital of Cosenza, Cosenza, 
      Italy.
FAU - Russo, Bina
AU  - Russo B
AD  - Pediatric Unit, Annunziata Hospital of Cosenza, Cosenza, Italy.
LA  - eng
PT  - Case Reports
PL  - United Arab Emirates
TA  - Curr Med Imaging
JT  - Current medical imaging
JID - 101762461
SB  - IM
MH  - Male
MH  - Humans
MH  - Middle Aged
MH  - *Fabry Disease/diagnostic imaging
MH  - Ultrasonography, Doppler, Transcranial
MH  - Cerebrovascular Circulation
MH  - Middle Cerebral Artery/diagnostic imaging
MH  - Basilar Artery/diagnostic imaging
OTO - NOTNLM
OT  - Cerebral vascular reactivity
OT  - Fabry disease
OT  - basilar artery
OT  - breath-holding index
OT  - middle cerebral artery
OT  - transcranial color-coded duplex Doppler
EDAT- 2022/05/21 06:00
MHDA- 2022/10/27 06:00
CRDT- 2022/05/20 06:43
PHST- 2022/03/02 00:00 [received]
PHST- 2022/03/29 00:00 [revised]
PHST- 2022/04/07 00:00 [accepted]
PHST- 2022/05/21 06:00 [pubmed]
PHST- 2022/10/27 06:00 [medline]
PHST- 2022/05/20 06:43 [entrez]
AID - CMIR-EPUB-123713 [pii]
AID - 10.2174/1573405618666220518101844 [doi]
PST - ppublish
SO  - Curr Med Imaging. 2022;18(13):1443-1446. doi: 10.2174/1573405618666220518101844.