Characteristic MR spectroscopy in fucosidosis: In vitro investigation

Fucosidosis is a rare lysosomal storage disorder that results in the deposition of the sugar fucose within various organs, including the central nervous system. Neuroimaging abnormalities on MR, specifically T2 shortening in the basal ganglia, have been reported as suggestive of fucosidosis. A more recent report of MR spectroscopy (MRS) of one patient provided evidence that MRS is specific for fucosidosis. We present another confirmed case with nearly identical MR spectroscopic findings along with in vitro data that support the contention that MR spectroscopy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder.