Fucosidosis: MRI and MRS findings

• DOI: 10.1007/s00247-007-0572-4
• Publication Date: 2007-08-17T04:41:32Z
• Authors: Ali Yusuf Oner; Ali Cansu; Sergin Akpek; Ayse Serdaroglu
• Keywords: Fucosidosis; Aspartic Acid; 03 medical and health sciences; Magnetic Resonance Spectroscopy; 0302 clinical medicine; Brain; Humans; Female; Child; Magnetic Resonance Imaging; 3. Good health

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.