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Characteristic MR spectroscopy in fucosidosis: in vitro investigation.

Authors
  • Mamourian, Alex C
  • Hopkin, Jeremy R
  • Chawla, Sanjeev
  • Poptani, Harish
Type
Published Article
Journal
Pediatric Radiology
Publisher
Springer-Verlag
Publication Date
Aug 01, 2010
Volume
40
Issue
8
Pages
1446–1449
Identifiers
DOI: 10.1007/s00247-010-1593-y
PMID: 20336288
Source
Medline
License
Unknown

Abstract

Fucosidosis is a rare lysosomal storage disorder that results in the deposition of the sugar fucose within various organs, including the central nervous system. Neuroimaging abnormalities on MR, specifically T2 shortening in the basal ganglia, have been reported as suggestive of fucosidosis. A more recent report of MR spectroscopy (MRS) of one patient provided evidence that MRS is specific for fucosidosis. We present another confirmed case with nearly identical MR spectroscopic findings along with in vitro data that support the contention that MR spectroscopy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder.

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