CASE REPORT Characteristic MR spectroscopy in fucosidosis: in vitro investigation Alex C. Mamourian & Jeremy R. Hopkin & Sanjeev Chawla & Harish Poptani Received: 3 September 2009 / Revised: 6 January 2010 / Accepted: 29 January 2010 / Published online: 25 March 2010 # Springer-Verlag 2010 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 short- ening 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 spectros- copy, in the setting of typical clinical and imaging features, is characteristic for this rare disorder. Keywords Fucosidosis . Metabolic disease . MR spectroscopy . MRI . Child . MR imaging Introduction Fucosidosis is an inherited autosomal-recessive metabolic disorder. Affected individuals are deficient in the lysosomal enzyme L-fucosidase. Symptoms result from the accumulation of fucose containing glycoproteins, oligosaccharides, muco- polysaccharides, and glycolipids within organs, including the brain. The clinical manifestations of this disorder include delayed intellectual and motor development, progressive neurological decline, coarse facial features, and musculo- skeletal findings typical of dysostosis multiplex. The clinical course has been divided into fucosidosis type 1, with an early presentation and rapid progression, and type 2, which has a somewhat later presentation and slower progression that allows survival into early adulthood. Both the CT and MRI findings in cases of fucosidosis have been reported. Although the white matter findings are nonspecific, the basal ganglia findings, e.g., a pronounced T2 shortening of the basal ganglia with linear striations, are less so. While this appearance is typical for fucosidosis, its diagnostic reliability is limited because there are reports of similar MR features in other disorders [1, 2]. A more recent report of the spectroscopic findings in fucosidosis [3] suggested the possibility that there exists an abnormal and potentially distinct MR spectroscopy (MRS) with this disorder. We report another case with similar MR imaging and MRS findings as well as in vitro MRS that show that the uncommon spectral peaks at 1.2 ppm and 3.4–3.8 ppm, evident in both our case and that featured in the Oner et al. [3] report, can be attributed to presence of fucose. The combination of MR imaging with MRS should allow the early diagnosis of fucosidosis, which is essential if bone marrow transplantation is a consideration. Case report This 3-year-old boy was referred to our pediatric neurology service for the evaluation of cognitive delays to determine whether there was an underlying metabolic disease. The child had only modest delay in walking but then began falling more often and his parents noted that about age 2 he A. C. Mamourian (*) : S. Chawla : H. Poptani Department of Radiology, Hospital of the University of Pennsylvania, 3400 Spruce St, Philadelphia, PA 19104, USA e-mail: alexander.mamourian@uphs.upenn.edu J. R. Hopkin Department of Neuroradiology, Barrow Neurological Institute, Phoenix, AZ, USA Pediatr Radiol (2010) 40:1446–1449 DOI 10.1007/s00247-010-1593-y