Leukodystrophies
ADRENOLEUKODYSTROPHY
KEY FACTS
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Most important peroxisomal disorder which is characterized by very long-chain fatty acids that are not metabolized and are elevated in serum and other body fluids.
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The neonatal type is rare and due to multiple enzyme deficiencies; it involves the white matter diffusely.
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The X-linked type is more common (>80%) and is due to a single enzyme defect (lignoceroyl CoA ligase leading to accumulation of very long-chain fatty acids); it presents in males 4 to 8 years of age (hearing and visual defects, loss of developmental milestones); neurologic symptoms precede adrenal insufficiency in a majority of cases; a vegetative state or death usually occurs 2 years after onset of symptoms.
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In 80% of patients, imaging shows bilateral and symmetrical demyelination in occipitoparietal regions with an enhancing margin at the front; auditory pathways and the splenium corpus callosum may be involved.
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Early in the disorder, only the corticospinal tracts or the lateral lemnisci may be affected.
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Magnetic resonance spectroscopy shows high choline and low N-acetyl-aspartate at enhancing “front,” low choline, creatine, and NAA and high myoinositol at areas of chronic involvement.
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DTI may show to a better extent the degree of white matter involvement.
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Main differential diagnosis: none; findings are typical in this age group.
![]() FIGURE 16-1. Axial FLAIR image shows symmetrical high signal in posterior white matter and splenium. |
![]() FIGURE 16-2. Postcontrast axial T1, in the same patient, shows enhancement in margins (arrows) of white matter lesions. |
SUGGESTED READING
Schneider JFL, Il’yasov KA, Boltshauser E, Hennig J, Martin E. Diffusion tensor imaging in cases of adrenoleukodystrophy: preliminary experience as a marker for early demyelination? Am J Neuroradiol 2003;24:819-824.
METACHROMATIC LEUKODYSTROPHY
KEY FACTS
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Lysosomal disorder characterized by a deficiency of arylsulfatase A, which results in the accumulation of sulfatides and is toxic to white matter.
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Most common inherited leukodystrophy (1:100,000 newborns).
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Most patients present between 1 and 2 years of age; juvenile and adult forms of the disease also exist; most common type of adult-onset leukodystrophy.
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Imaging studies show diffuse white matter disease; magnetic resonance imaging shows sparing of subcortical U-fibers and areas of increased T2/fluid attenuated inversion recovery (FLAIR) signal intensity in cerebellum. Sparing of perivascular white matter may give rise to “tigroid” appearance.
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MRS shows moderately high choline, low NAA, and high myoinositol. Diffusion-weighted imaging may show restricted diffusion in areas of abnormal high T2/FLAIR signal.
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End-stage disease is indistinguishable from other leukodystrophies by imaging studies.
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Death occurs 1 to 4 years after onset of symptoms.
![]() FIGURE 16-3. Axial T2 shows symmetrical high signal in posterior white matter with sparing of subcortical regions. |
![]() FIGURE 16-4. Axial T2, in the same patient, shows abnormal high signal in white matter of occipital lobes with sparing of subcortical regions and splenium. |
![]() FIGURE 16-5. Axial T2, in a different patient, shows more extensive white matter involvement but sparing of subcortical U-fibers. |
![]() FIGURE 16-6. Axial T2, in a different patient, shows typical tigroid appearance of white matter that contains residual myelinated regions. |
SUGGESTED READING
Kim TS, Kim 10, Kim WS, Choi YS, Lee JY, Kim OW, et al. MR of childhood metachromatic leukodystrophy Am J Neuroradiol 1997;18:733-738.
van der Voorn JP, Pouwels PJW, Kamphorst W, Powers JM, Lammens M, Barkhof F, et al. Histopathologic correlates of radial stripes on MR images in lysosomal storage disorders. Am J Neuroradiol 2005;26:442-446.
ALEXANDER DISEASE

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