Fucosidosis: MRI and MRS findings.
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.
Oner
Ali Yusuf
AY
Department of Radiology, Gazi University School of Medicine, Ankara 06510, Turkey. yusuf@tr.net
Cansu
Ali
A
Akpek
Sergin
S
Serdaroglu
Ayse
A
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*
D001224:Aspartic Acid; C000179:N-acetylaspartate
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