To investigate the possibility that in Fabry Disease (FD), similarly to other LSD, an abnormal brain development could occur, we performed a volumetric MRI analysis on 42 FD patients and 38 healthy controls (HC). MRI data were processed using SPM12 to obtain ICV values, as well as brain parenchymal (BPF) and gray matter (GMF) fractions. Mean ICV of FD patients was 8.1% smaller compared to HC (p < 5·10-5), without significant differences in terms of BPF or GMF, thus suggesting a harmonious volumetric reduction of intracranial structures, as a reflection of a possible abnormal brain development in this condition.
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