MRI and ¹H-MRS findings of three patients with Sjögren-Larsson syndrome

Abstract

-Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive neurocutaneous disorder caused by deficiency of the microsomal enzyme fatty aldehyde dehydrogenase. Patients present the classical triad of congenital ichthyosis, mental re t a rdation and spastic di-or tetraplegia. Magnetic resonance imaging (MRI) of the brain usually shows hypomyelination involving the periventricular white matter. Cere b r a l p roton MR spectroscopy ( 1 H-MRS) reveals a characteristic abnormal lipid peak. We re p o rt three cases of SLS from different families with the typical clinical triad. The MRI and 1 H-MRS findings are discussed.

A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy

“…The MRI findings of the present case may be milder than any of the others. Another case of SLS reported by Nakayama et al [5] also demonstrates mild MRI findings despite the prominent lipid peak on 1 H-MRS, but we presume that the MRI findings of our case are even less notable, especially given that 1 H-MRS in our case was acquired from a region without any MRI abnormalities, compared to the previous case that acquired 1 H-MRS from an area with abnormal high intensity in T2-weighted imaging. Willemsen et al [1] evaluated 1 H-MRS acquired from 18 SLS patients and reported elevated levels of creatine (+14%), choline (+18%) and myo-inositol (+54%) in addition to lipids, but the molecules other than lipids were not elevated in our case.…”

“…It is well known that SLS is characterized by unusual narrow and prominent resonance peaks at 1.3 ppm and 0.9 ppm in 1 H-MRS, which correspond to the resonance of lipids. This finding is observed in all SLS cases published to date without exception when 1 H-MRS was acquired from the deep cerebral white matter of the brain [1,5]. The MRI findings of the present case may be milder than any of the others.…”

Detection and characterization of neurotoxicity in cancer patients using proton MR spectroscopy

“…Lac is a reflection of anaerobic metabolism. Prominent lipid peaks have been reported in MRS studies of multiple sclerosis [33], Tay-Sachs disease [2], and Sjögren-Larsson syndrome [42,24] and are attributed to demyelination or membrane breakdown. Because neuronal loss and demyelination have been associated with NT, we hypothesized that changes in the metabolites that reflect these conditions would be markers of NT.…”

“…Studies using proton MRS techniques to evaluate patients with traumatic brain injury and HIV disease have also shown that decreased NAA, indicating either neuronal loss or dysfunction, is associated with poor cognitive outcome [17,19]. In patients with Tay-Sachs disease and Sjögren-Larsson syndrome [24], populations at risk for impaired cognitive function, memory and executive function [44], increased levels of choline and prominent lipid peaks have been observed and associated with active demyelination [2,44] and white matter abnormalities. The relationships identified between poorer NP function and metabolite ratios in our study may reflect changes in myelin metabolism that are not consistently perceptible on MRIs.…”

Sjögren‐Larsson syndrome

“…9,10 Proton magnetic resonance spectroscopy can also be a powerful tool in the screening of Sjögren-Larsson heterozygotes. 11,12 The electroencephalogram shows only non-specific slow wave activity. 13 Post-mortem examination of the brain can confirm the accumulation of lipid substances in the subpial, subependymal and perivascular glial layers, the subpial and perivascular spaces, and the white matter of the cerebrum and brainstem.…”