Fucosidosis: MRI and MRS findings


Oner A. Y. , Cansu A., Akpek S., Serdaroglu A.

PEDIATRIC RADIOLOGY, vol.37, no.10, pp.1050-1052, 2007 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 10
  • Publication Date: 2007
  • Doi Number: 10.1007/s00247-007-0572-4
  • Title of Journal : PEDIATRIC RADIOLOGY
  • Page Numbers: pp.1050-1052
  • Keywords: fucosidosis, MRI, MRS, child, DISEASE

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.