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Page 8 of 16 Moreno-Martínez et al. Rare Dis Orphan Drugs J 2024;3:9 https://dx.doi.org/10.20517/rdodj.2023.51

Figure 2. Brain MR T2 Flair axial reconstruction in a 36-year-old man with Fabry Disease showed white matter hyperintensities located
bilaterally in the (A) periventricular and (B) pontine regions; (C) SWI axial recconstruction identified punctate microbleeds (black
arrows) in the right thalannus, right frontal and right occipital lobes; (D) Intracranial time of flight MR angiography sequence coronal
reconstruction revealed the presence of mild elongation and tortuosity of the basilar artery. MR: Magnetic resonance; SWI:
susceptibility weighted imaging.

WMHs are not specific and may be misdiagnosed as multiple sclerosis (MS) or other demyelinating
[87]
conditions . In a study comparing brain MRI from FD patients vs. matched patients with MS, WMHs
involving the juxtacortical and infratentorial regions as well as the corpus callosum were more frequently
observed in MS patients . Moreover, the history of multiorgan involvement, the absence of oligoclonal
[88]
bands in the cerebrospinal fluid, the relative sparing of corpus callosum, and the lack of spinal cord lesions
are useful in differentiating FD from MS [89,90] .

Perivascular spaces
MRI-visible perivascular spaces (PVS) seem to be a promising marker of small vessel disease associated with
possible impaired interstitial fluid drainage in FD. In a study including 33 patients with FD (median age: 44
years; 44.1% male) and 20 healthy controls (median age: 33.5 years; 50% male), FD was associated with more
severe basal ganglia PVS and a higher total PVS score. Impaired interstitial fluid drainage might be a newly
[91]
recognized mechanism of white matter injury in FD .