title: Proton MR spectroscopy of Sjögren-Larsson's syndrome.
abstract: We performed single-voxel proton MR spectroscopy (1H-MRS) in two children with Sjögren-Larsson's syndrome (SLS). Both patients showed two abnormal spectral peaks at 1.3 ppm and 0.9 ppm that were obtained with short echo times. These two abnormal spectral peaks were seen in high-intensity areas on T2-weighted images and also in basal ganglia of normal intensities. 1H-MRS may be useful for establishing the diagnosis and investigating the natural history of SLS, and for evaluating the efficacy of therapeutic approaches to SLS.
authors.affiliation: Department of Pediatrics, Osaka University Medical School, Suita, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Mano
authors.forename: J
authors.initials: J
authors.lastname: Ono
authors.forename: T
authors.initials: T
authors.lastname: Kaminaga
authors.forename: K
authors.initials: K
authors.lastname: Imai
authors.forename: K
authors.initials: K
authors.lastname: Sakurai
authors.forename: K
authors.initials: K
authors.lastname: Harada
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: W B
authors.initials: WB
authors.lastname: Rizzo
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D003401:Creatine / Q000378:metabolism; D005233:Fatty Alcohols / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010836:Phytol / Q000378:metabolism; D012680:Sensitivity and Specificity; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000235:genetics; D013229:Stearic Acids / Q000378:metabolism
chemical_list: D005233:Fatty Alcohols; D013229:Stearic Acids; D010836:Phytol; D001224:Aspartic Acid; C031183:stearic acid; C005031:cetyl alcohol; C000179:N-acetylaspartate; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase; D003401:Creatine