title: Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report.
abstract: We report MRI and MRS of the brain in a patient with Sjögren-Larsson syndrome (SLS) in whom fatty alcohol oxidoreductase (FAO) deficiency has been verified. MRI showed periventricular lesions, high intensity on T2-weighted and low intensity on T1-weighted images at trigones of the lateral ventricles. 1H-MRS of these lesions revealed high lipid and low N-acetyl aspartate peaks. We presume such lipids in periventricular lesions with high T2 signal may be pathognomonic of SLS.
authors.affiliation: Department of Paediatrics, Kyoto City Child Welfare Centre Shuzei-cho, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Miyanomae
authors.forename: M
authors.initials: M
authors.lastname: Ochi
authors.forename: H
authors.initials: H
authors.lastname: Yoshioka
authors.forename: K
authors.initials: K
authors.lastname: Takaya
authors.forename: Z
authors.initials: Z
authors.lastname: Kizaki
authors.forename: F
authors.initials: F
authors.lastname: Inoue
authors.forename: S
authors.initials: S
authors.lastname: Furuya
authors.forename: S
authors.initials: S
authors.lastname: Naruse
mesh_terms: D000328:Adult; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D001923:Brain Chemistry; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D016111:Sjogren-Larsson Syndrome / Q000378:metabolism / Q000473:pathology*