Article Figures & Data
Figures
- Fig 1.
FALDH catalyzes the oxidation of long-chain fatty aldehydes (here, octadecanal) to the corresponding carboxylic acid.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
Tables
Patient Sex No. of Studies Age Range, year Myelin Deficit Periventricular Zone of Abnormal Signal Intensity Atrophy Degree Predominance 1 F 3 0.8–1 1 1 PO*† 0 2 M 5 0.4–4 1 1 PO 0 3 M 2 3–5 1 1 PO 0 4 M 3 1–8 1 1 PO 0 5 M 1 8 1 1 PO 0 6 M 2 5–9 1 1 PO 0 7 F 2 6–9 1 1 PO 0 8 M 2 8–9 1 2 FP* 0 9 F 7 3–10 1 1 PO 0 10 F 1 10 1 1 FP* 1 11 F 1 13 1 1 PO† 0 12 F 3 11–14 1 1 PO 0 13 M 4 12–16 1 2 FP 1 14 F 3 12–17 1 1 PO 1 15 F 3 15–17 1 2 FP*† 0 16 F 3 16–21 1 1 PO 1 17 M 1 38 0 1 PO 1 18 F 2 41–45 1 1 PO 1 Note.—The results reflect findings from each patient’s latest MR imaging study. The degree of myelin deficit, periventricular signal-intensity abnormalities, and atrophy were scored as follows: 0 = none, 1 = mild, 2 = severe. PO = parieto-occipital, FP = frontoparietal.
* Corpus callosum involved.
† Patchy white matter lesions.
- TABLE 2:
Results of proton MR spectroscopy in parieto-occipital white matter and gray matter
A: Patients’ last investigations Patient No. of Studies Age Range, year White Matter Lipid Peak, au White Matter Metabolites, mmol/L t-NAA Cr Cho Ins Glx 1 3 0.8–1 5.7 9.5 4.9 2.3 3.0 11.6 2 5 0.4–4 3.0 9.5 4.7 1.5 4.6 9.8 3 2 3–5 27.8 11.1 5.4 2.4 8.1 10.5 4 1 8 23.4 11.1 6.0 2.1 5.3 13.6 5 1 8 11.2 8.5 4.8 2.0 4.0 8.6 6 2 5–9 15.5 10.1 6.1 1.8 5.1 13.4 7 2 6–9 1.9 11.3 6.1 2.1 5.8 11.3 8 1 9 21.3 9.3 5.8 2.4 6.6 10.6 9 4 7–10 11.5 11.4 5.2 1.9 4.0 14.3 10 1 10 Present — — — — — 11 1 13 11.2 9.4 4.7 1.8 5.9 8.7 12 3 11–14 13.6 9.9 6.3 2.1 6.0 13.0 13 4 12–16 19.8 11.9 6.0 2.0 6.3 10.2 14 2 17–17 20.3 10.5 6.6 1.8 6.7 16.0 15 3 15–17 8.6 12.7 6.8 1.9 5.4 15.3 16 2 21–21 6.9 11.0 7.6 2.4 5.5 14.5 18 1 45 1.6 8.9 6.0 1.8 3.6 9.8 B: Group means and standard deviations Group Lipid Peak, au Metabolites, mmol/L t-NAA Cr Cho Ins Glx White matter Patients (n = 16) 12.7 (8.1)* 10.4 (1.2) 5.8 (0.8)† 2.0 (0.3)‡ 5.4 (1.3)§ 12.0 (2.4) Control subjects (n = 9) 0.6 (0.6) 9.6 (0.9) 5.1 (0.3) 1.7 (0.3) 3.5 (1.0) 12.4 (0.9) Gray matter Patients (n = 15) 0.9 (0.8) 11.2 (1.6) 7.1 (1.0) 1.5 (0.3) 3.9 (1.6) 17.0 (2.7) Control subjects (n = 9) 1.1 (0.8) 11.1 (0.5) 6.5 (0.5) 1.4 (0.1) 4.3 (0.8) 15.6 (2.0) Note.—au = arbitrary units, t-NAA = total NAA (N-acetylaspartate and N-acetylaspartylglutamate), Cr = creatine and creatine phosphate, Cho = free choline and the choline-containing compounds phosphocholine and glycerophosphorylcholine, Ins = myo-inositol, Glx = glutamine and glutamate, dashes = no data available. P values are given when P < .05 for SLS patients compared with healthy control subjects (unpaired two-tailed t test).
* P = .0002.
† P = .02.
‡ P = .005.
§ P = .001.
In this issue
Jump to section
Related Articles
Cited By...
- Child Neurology: Sjögren-Larsson syndrome
- Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system
- Magnetic resonance spectroscopy of the brain
- Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models
- MR Spectroscopy Detects Lipid Peaks in Cerebrotendinous Xanthomatosis