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Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome: case report
Y Miyanomae1, M Ochi, H Yoshioka
1Department of Paediatrics, Kyoto City Child Welfare Centre Shuzei-cho, Japan.
Neuroradiology
|April 1, 1995
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.