Editors' note: Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study

Abstract

In “Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study,” Phyu et al. reported that patients with Fabry disease (FD) have significantly higher cerebral blood flow (CBF) in the white matter than normal controls, and that this difference is most notable in the splenium of the corpus callosum (SCC). Based on these findings, they proposed that white matter hyperintensities (WMH) in patients with FD are the result of hyperperfusion. In their experience, Cocozza and Quarantelli note that the SCC is infrequently hyperintense in patients with FD and suggest that a mechanism other than hyperperfusion is responsible for WMH in FD. In response, Werring et al. acknowledge that (1) the correlation between hyperperfusion in the SCC and WMH in the SCC is not indicative of causation and (2) there is a low prevalence of SCC hyperintensities in patients with FD compared with patients with multiple sclerosis, though they note that prior studies also demonstrate increased CBF in the SCC of patients with FD. Further multimodal studies are needed to assess the relationship between CBF and WMH in patients with FD. In “Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study,” Phyu et al. reported that patients with Fabry disease (FD) have significantly higher cerebral blood flow (CBF) in the white matter than normal controls, and that this difference is most notable in the splenium of the corpus callosum (SCC). Based on these findings, they proposed that white matter hyperintensities (WMH) in patients with FD are the result of hyperperfusion.