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Data from: An uncommon cause of carotid artery dissection: Fabry disease.

Citation

Theodorou, Aikaterini et al. (2021), Data from: An uncommon cause of carotid artery dissection: Fabry disease., Dryad, Dataset, https://doi.org/10.5061/dryad.r7sqv9s86

Abstract

Internal cervical artery dissection represent a common etiology of stroke in the young, while the most common central nervous system manifestation of Fabry Disease (FD) is acute cerebral ischemia. Nevertheless, internal carotid artery disease has been scarcely associated with Fabry Disease. 

We describe the neuroimaging findings of an 49-year-old patient presenting with acute left middle cerebral artery occlusion due to an underlying internal carotid artery dissection. The patient was successfully treated with intravenous thrombolysis and mechanical thrombectomy. Further diagnostic work-up revealed bilateral cornea verticillata and large-fiber polyneuropathy with impaired cold and warm perception. Low a-galactosidase levels and molecular genetic testing established the diagnosis of Fabry Disease, while the patient was started on oral chaperone therapy with migalastat. 

The present case highlights that Fabry Disease may occasionally manifest with internal carotid artery dissection and that FD should be included in the diagnostic work-up of spontaneous internal carotid artery dissection. 
 

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Location
Athens, Greece