Article Figures & Data
Figures
- Fig 1.
Scoring details of the metachromatic leukodystrophy (MLD) MR imaging severity score. Differences between scoring faint (1 point) versus dense appearance (2 points) are shown. A, Periventricular and central involvement in the frontal white matter is categorized as faint (1 point, thin arrow), whereas myelination is preserved in the subcortical U-fibers (0 points, thick arrow). B, Periventricular and central involvement in the frontal white matter is categorized as dense (2 points, thin arrow), and there are areas that lack subcortical U-fiber myelination (2 points, thick arrow). C, Inner atrophy as measured in the third ventricle (arrow).
- Fig 2.
Midline of the corpus callosum in advanced stages of MLD. T2 lesion hyperintensities in the midline are reduced compared with the adjacent supratentorial white matter lesion signal intensity (arrow).
- Fig 3.
Correlation of age and MR imaging severity score in patients with MLD. The greatest variability in MR imaging lesion severity is seen in the first decade of life. Thereafter, most patients have a severity score of >20. Patients with serial scans have scores with connecting lines.
Tables
Brain Areas Score* Maximum per Area Frontal WM 6† Periventricular 0 1 2 Central 0 1 2 U-fibers 0 1 2 Parieto-occipital WM 6† Periventricular 0 1 2 Central 0 1 2 U-fibers 0 1 2 Temporal WM 6† Periventricular 0 1 2 Central 0 1 2 U-fibers 0 1 2 Corpus callosum 4† Genu 0 1 2 Splenium 0 1 2 Projection fibers 6† Internal capsule posterior limb 0 1 2 Internal capsule anterior limb 0 1 2 Midline pons 0 1 2 Cerebral atrophy 0 1 2 2† Thalamus 0 1 1† Basal ganglia 0 1 1† Cerebellum 2† WM 0 1 Atrophy 0 1 Total 34† Note:—MLD indicates metachromatic leukodystrophy; WM, white matter.
* 0 indicates normal; 1, faint hyperintensity; 2, dense hyperintensity.
† XXX.
Patient No. Phenotype* Age at MRI Deep Gray Nuclei Projection Fibers Cerebellum Atrophy MRI Severity Score 1 Late infantile 1.92 No No No No 1 2 Late infantile 2.08 Yes No No No 17 3 Late infantile 2.5 No No No No 4 4 Late infantile 2.5 No No No No 4 5 Late infantile 2.5 No No No No 4 6 Late infantile 3 No No No No 6 7 Late infantile 2.08 No No No No 0 8 Late infantile 3.66 Yes No No No 21 9 Late infantile 7.16 Yes Yes Yes Yes 30 10 Late infantile 9.6 Yes Yes Yes Yes 32 11 Juvenile 4.84 No No No No 12 12 Juvenile 4.84 No No No No 12 13 Juvenile 8.08 Yes No No No 13 14 Juvenile 10.25 No No No No 3 15 Juvenile 3 No No No No 2 16 Juvenile 4.17 No No No No 6 17 Juvenile 4.17 No No No No 10 18 Juvenile 5.66 Yes Yes No Yes 26 19 Juvenile 6.25 Yes Yes No Yes 27 20 Juvenile 7 No No No No 18 21 Juvenile 7.75 No No No Yes 19 22 Juvenile 8.25 Yes Yes Yes Yes 30 23 Juvenile 9.4 No No No No 12 24 Juvenile 13.08 Yes Yes No Yes 26 25 Juvenile 18.42 Yes Yes Yes Yes 28 26 Juvenile 27 No Yes No Yes 24 27 Adult 34.5 Yes Yes No Yes 22 28 Adult 46 Yes Yes No Yes 26 Note:—MRI indicates MR imaging.
* The individual phenotypes, age as well as the MR imaging severity score with its subscores at initial MR imaging are provided.
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