Fucosidosis: MRI and MRS findings

Pediatr Radiol. 2007 Oct;37(10):1050-2. doi: 10.1007/s00247-007-0572-4. Epub 2007 Aug 18.

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.

Publication types

  • Case Reports

MeSH terms

  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / analysis
  • Brain / metabolism*
  • Brain / pathology*
  • Child
  • Female
  • Fucosidosis / diagnosis*
  • Fucosidosis / metabolism*
  • Humans
  • Magnetic Resonance Imaging / methods*
  • Magnetic Resonance Spectroscopy / methods*

Substances

  • Aspartic Acid
  • N-acetylaspartate