Table 1.

The major conventional imaging findings in Fabry disease

	Conventional imaging findings
Stroke	Increased prevalence of cerebrovascular events in FD, with predilection for females and young subjects [11]	Frequently occurring before the diagnosis, in absence of other signs and symptoms of the underlying disorder [13]	Neurological and neuroradiological findings classical and consistent with affected vascular territory [14]	Haemorrhagic stroke is rare, whereas cerebral micro-bleeding more commonly observed (11–30% of cases) [15]
White matter hyperintensities	Observed in up to 80% of patients [16], white matter hyperintensities are the most common neuroradiological finding in FD	Non-specific distribution, with a variable periventricular, deep and/or subcortical white matter involvement [17]	High lesion load can mimic other conditions, including multiple sclerosis. Relative sparing of midline and infratentorial structures can help in the differential diagnosis [18, 19]	Long-term enzyme replacement therapy can apparently stabilise white matter lesion load [20–22]
Vertebro-basilar diameter	Dilative arteriopathy of the vertebro-basilar system is a common, although inconstant, neuroradiological feature of FD [23]	Vessel alterations include elongation, tortuosity, ectasia and focal aneurismal dilatation of vertebral and basilar arteries [24]	Basilar artery elongation and dilatation seems to be an age-dependent phenomenon, more pronounced in FD patients [25]	The increase in arterial diameters apparently show stability over time [26]
Pulvinar sign	Unilateral or bilateral hyperintensity of the thalamic pulvinar on unenhanced T1-weighted brain MRI [27]	Originally it was thought to be a common and pathognomonic sign of FD [28]	Is a sign present in a low proportion of patients (3% of cases), mostly observed in male patients with severe renal involvement [29]	Pulvinar sign should no longer be recognised as a neuroradiological finding characteristic of FD, due to its low incidence and specificity