Cerebral MRI and spectroscopy in Sj�gren-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.

Proton Magnetic Resonance Spectroscopy Findings and Clinical Effects of Montelukast Sodium in a Case With Sjögren-Larsson Syndrome

“…7 Miyanomae et al first described the results of magnetic resonance spectroscopy in a 20-year-old bedridden patient with Sjö gren-Larsson syndrome. 8 Proton magnetic resonance spectroscopy revealed a high-lipid spectral peak of 1.3 ppm. From these data, it can be inferred that the spectral peak at 1.3 ppm in Sjö gren-Larsson syndrome seems to be more specific than the 0.9 ppm spectral peak.…”

Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome

“…Analyses of all samples was performed at the moment that all patients had completed the full length (3 months) of the treatment protocol. Urinary LTB 4 , x-OH-LTB 4 , and x-COOH-LTB 4 , as well as LTB 4 and x-OH-LTB 4 in CSF, were separated by reverse-phase HPLC and subsequently quanti®ed by immunoassays and/or gas chromatography-mass spectrometry using 18 Olabelled LTs as internal standards, as previously described in detail [32,33]. Levels of the metabolites in urine are expressed as nmol/mol creatinine.…”

“…Most patients exhibit additional signs and symptoms, including severe pruritus, preterm birth, and ocular abnormalities of disturbed myelination of the CNS and proton magnetic resonance spectroscopy ( 1 H-MRS) shows the presence of a highly characteristic`lipid' peak in the cerebral white matter [14,18,28]. The ichthyosis and severe pruritus especially hamper the everyday life of SLS patients, although the neurological handicaps present the most salient problems.…”