Background and Purpose-
Stroke is the most frequent severe clinical event in patients with
Fabry disease. We aimed to evaluate the cerebral magnetic resonance imaging findings of patients with
Fabry disease and assess their association with future
stroke risk after
enzyme replacement therapy (ERT) induction. Methods- We retrospectively reviewed the magnetic resonance imaging findings of 25 patients with
Fabry disease. Of these, 12 adult patients without prior
stroke or ERT were enrolled to evaluate the association between baseline magnetic resonance imaging findings and
stroke occurrence after ERT initiation. We assessed white matter hyperintensities, periventricular hyperintensities, and basilar artery diameter as neuroimaging markers. Results- The mean age of participants was 38.8±16.8 years. Fourteen patients (56.0%) were women. White matter hyperintensities and periventricular hyperintensities were observed in 15 and 13 cases, respectively. The mean basilar artery diameter was 3.2±0.55 mm. Two patients demonstrated old
infarct lesions. Three of 12 patients in whom ERT was initiated had symptomatic
stroke after baseline magnetic resonance imaging. Of these, 2 developed
stroke within 6-month post-ERT initiation. The baseline basilar artery diameter was larger in patients who developed
stroke than in those who did not (4.0±0.40 versus 2.9±0.49 mm, P=0.02). Conclusions- Basilar artery diameter may be associated with
stroke risk after ERT initiation among Japanese patients with
Fabry disease.