title: Infantile Sandhoff's disease: multivoxel magnetic resonance spectrosecopy findings.
abstract: Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magnetic resonance spectrscopy features of two cases with Sandhoff's disease. Magnetic resonance spectroscopy revealed findings indicating widespread demyelination in both cases and neuroaxonal loss and anaerobic metabolism in the second case. Magnetic resonance spectroscopy could provide useful information in the explanation of the clinical picture of cases with Sandhoff's disease.
authors.affiliation: Department of Radiology, Turgut Ozal Medical Center, Inonu University School of Medicine, Malatya, Turkey. aalkan@inonu.edu.tr
authors.forename: Alpay
authors.initials: A
authors.lastname: Alkan
authors.forename: Ramazan
authors.initials: R
authors.lastname: Kutlu
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakinci
authors.forename: Ahmet
authors.initials: A
authors.lastname: Sigirci
authors.forename: Mehmet
authors.initials: M
authors.lastname: Aslan
authors.forename: Kaya
authors.initials: K
authors.lastname: Sarac
mesh_terms: D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012497:Sandhoff Disease / Q000175:diagnosis*