Abstract
Fucosidosis is a rare, autosomal recessive lysosomal storage disease in which fucose-containing glycolipids, glycoproteins, and oligosaccharides accumulate in tissues as a consequence of α-l-fucosidase enzyme deficiency. We present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. This report also includes the MRS findings of a decreased N-acetylaspartate/choline ratio together with an abnormal peak at 3.8 ppm which expand the knowledge of the neuroradiological spectrum of this rare disease.
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Oner, A.Y., Cansu, A., Akpek, S. et al. Fucosidosis: MRI and MRS findings. Pediatr Radiol 37, 1050–1052 (2007). https://doi.org/10.1007/s00247-007-0572-4
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DOI: https://doi.org/10.1007/s00247-007-0572-4