Fucosidosis: MRI and MRS findings.

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.

• Authors: Ali Yusuf Oner, Ali Cansu, Sergin Akpek, Ayse Serdaroglu
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 37 Issue 10 Pg. 1050-2 (Oct 2007) ISSN: 0301-0449 [Print] Germany
• PMID: 17704911 (Publication Type: Case Reports, Journal Article)

Chemical References

• Aspartic Acid
• N-acetylaspartate

Topics

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