Characteristic MR spectroscopy in fucosidosis: In vitro investigation

Alex C. Mamourian, Jeremy R. Hopkin, Sanjeev Chawla, Harish Poptani

Research output: Contribution to journalArticle

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1446-1449
Number of pages4
JournalPediatric Radiology
Volume40
Issue number8
DOIs
StatePublished - Aug 1 2010

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Radiology Nuclear Medicine and imaging

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