title: Fucosidosis: MRI and MRS findings.
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 alpha-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.
authors: Department of Radiology, Gazi University School of Medicine, Ankara 06510, Turkey. yusuf@tr.net
authors: Ali Yusuf
authors: AY
authors: Oner
authors: Ali
authors: A
authors: Cansu
authors: Sergin
authors: S
authors: Akpek
authors: Ayse
authors: A
authors: Serdaroglu
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000032:analysis; D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D002648:Child; D005260:Female; D005645:Fucosidosis / Q000175:diagnosis* / Q000378:metabolism*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate
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