Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report.
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.
Miyanomae
Y
Y
Department of Paediatrics, Kyoto City Child Welfare Centre Shuzei-cho, Japan.
Ochi
M
M
Yoshioka
H
H
Takaya
K
K
Kizaki
Z
Z
Inoue
F
F
Furuya
S
S
Naruse
S
S
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*