Fucosidosis

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Fucosidosis: MRI and MRS findings.” (Pediatr Radiol. 2007 Aug 18). Authors are Oner AY, Cansu A, Akpek S, et al, from the Department of Radiology, Gazi University School of Medicine, Ankara, Turkey. 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. The authors 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. To access the full abstract of the article, click here.