MR Imaging and Proton MR Spectroscopic Studies in Sjögren-Larsson Syndrome: Characterization of the Leukoencephalopathy
Michèl A. A. P. Willemsena,
Marinette van der Graafb,
Marjo S. van der Knaapc,
Arend Heerschapb,
Peter H. M. F. van Domburgd,
Fons J. M. Gabreëlsa and
Jan J. Rotteveela
a Department of Pediatric Neurology, University Medical Center Nijmegen
b Department of Radiology, University Medical Center Nijmegen
c Department of Child Neurology, Free University Medical Center, Amsterdam
d Department of Neurology, Laurentius Hospital, Roermond the Netherlands
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FIG 1. FALDH catalyzes the oxidation of long-chain fatty aldehydes (here, octadecanal) to the corresponding carboxylic acid.
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FIG 2. Patient 13 at 16 years of age. T2-weighted MR images (3100/98 [TR/TE]).
A and B, Severe signal-intensity changes of the periventricular white matter with predominant involvement of the frontal trigones.
C, Small areas of unmyelinated subcortical association fibers.
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FIG 3. Patient 6 at 9 years of age. T2-weighted MR images (3100/98 [TR/TE]).
A and B, Mild signal-intensity changes of the periventricular white matter with predominant involvement of the occipital trigones.
C, Small areas of unmyelinated subcortical association fibers.
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FIG 4. Patient 2. T2-weighted MR images (3100/98 [TR/TE]). There is a delay in the maturation of the white matter on all three images.
A, At 5 months of age, the unmyelinated periventricular white matter shows no abnormal signal intensities.
B and C, Images obtained at 16 (B) and 35 (C) months of age show nonprogressive, slight signal-intensity abnormalities in the periventricular white matter that mainly involve the occipital trigones.
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FIG 5. Patient 3 at 5 years of age.
A, Image shows voxel locations in the occipital trigone (box A) and in the central occipital gray matter (box B).
B, Proton MR spectra (TE = 20 msec) obtained from cerebral white matter (spectrum A) and gray matter (spectrum B). Note the presence of the high, sharp lipid peak at 1.3 ppm and a small peak at 0.8–0.9 ppm in the spectrum obtained from the white matter.
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FIG 6. Serial proton MR spectra (TE = 20 msec) from cerebral white matter of patients 1 and 2 demonstrate a gradual emergence of the lipid peak at 1.3 ppm during the first years of life.
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FIG 7. Metabolite map derived from MRSI data of patient 13 shows the spatial distribution of the lipid peak over the cerebral white matter. The peak has its maximum height around the anterior and posterior trigones.
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