Abstract
Fabry’s disease is a sex-linked recessive storage disorder leading to cerebrovascular symptoms in many cases. Whether the primary origin of cerebrovascular symptoms in these patients is due to autochthonous thrombosis of small vessels or embolic infarction from large vessels is under debate. Microembolic signals (MES) indicative of an active embolic source can be recorded by transcranial Doppler sonography. We report four patients (34, 44, 62 and 66 years old) with Fabry’s disease from one kindred in whom we carried out microembolus detection recordings to disclose active embolic sources. Three of the patients had had transient focal neurological deficits. Two patients had angina pectoris and one had exercise dyspnea, but no patient had clear evidence of disease of the large coronary vessels or brain-supplying arteries. No MES were found in 1-hour recordings in any patients, supporting the hypothesis that early cerebrovascular symptoms arise from small vessel occlusion and not from embolic sources as an indicator of disease of large brain-supplying arteries or cardiac embolism.