Vertebrobasilar Dolichoectasia in Fabry Disease The Earliest Marker of Neurovascular Involvement

Introduction:Fabry disease (FD) is a lysosomal storage disorder associated with marked cerebrovascular involvement. Conventional magnetic resonance imaging (MRI) shows different abnormalities, like white matter lesions that may already be present at an early stage in the disease.Aim:To present observations from a series of brain MRIs performed among a cohort of patients with FD and the relationship of imaging abnormalities with the presence of cardiovascular risk factors (CVRFs).Methods:A total of 70 patients with FD (43 women) were enrolled. The cardiac, renal, ophthalmic, and peripheral nerve functioning was assessed. The MRI evaluation included assessment for evidence of ischemia, microbleeds, pulvinar sign, Arnold-Chiari type 1 malformation, and vertebrobasilar dolichoectasia (VBD). The presence or absence of CVRFs was examined for all patients.Results:Renal involvement was found in 60%, cardiac compromise in 30%, cornea verticillata in 91.4%, and acroparesthesias in 87.1% of patients. Brain MRI analy...