Fucosidosis: MRI and MRS findings


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

PEDIATRIC RADIOLOGY, cilt.37, sa.10, ss.1050-1052, 2007 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 37 Konu: 10
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1007/s00247-007-0572-4
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Sayfa Sayıları: ss.1050-1052

Özet

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.