MR Characteristics and Neuropathology in Adult-Onset Autosomal Dominant Leukodystrophy with Autonomic Symptoms
A. Melberga,
L. Hallbergb,
H. Kalimoc,d and
R. Raininkob
a Departments of Neuroscience and Neurology, Uppsala University, Uppsala, Sweden
b Department of Radiology, Uppsala University, Uppsala, Sweden
c Department of Pathology, Uppsala University, Uppsala, Sweden
d Department of Pathology, University of Helsinki, Helsinki, Finland
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Fig 1. T2 signal-intensity alterations in a 37-year-old asymptomatic family member. Subtle high-signal-intensity lesions in the corticospinal tracts under the motor cortex (A), in the posterior limb of the internal capsule (B, arrow), mesencephalon (C, arrow), pons (D, arrow), and medulla oblongata (E, arrow). Only a tiny signal-intensity abnormality is seen in the right corticospinal tract at the level of the pons. Note the lesions in the upper cerebellar peduncles (C, arrowhead). Fluid-attenuated inversion recovery (FLAIR), 10,000/140/2500.
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Fig 2. More extensive signal-intensity alterations in a 34-year-old asymptomatic subject.
A, Frontoparietal changes are less severe in the periventricular region.
B, Increased signal intensity in the internal capsules, in the anterior and posterior corpus callosum and in the vicinity of the atria (arrow).
C, Changes in the middle cerebellar peduncles and in the pontine nuclei. Turbo spin-echo (TSE), 5000/90.
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Fig 3. A 48-year-old woman with a history of urinary bladder dysfunction for the past 2 years. Frontoparietal white matter alteration does not involve the periventricular area (A and B). Increased signal intensity in the corticospinal tracts in the internal capsules (B, arrow).
A, Fluid-attenuated inversion recovery (FLAIR), 10,000/140/2500.
B, Turbo spin-echo (TSE), 8116/100.
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Fig 4. A 55-year-old man with a history of impotence, urinary bladder dysfunction, and obstipation for the past 6 years. Most of the frontoparietal and occipital white matter is affected (A–D and G). The periventricular white matter looks less pathologic (B, C, G). The circular periventricular layers are best seen in a coronal plane (G). The leukodystrophic area continues in the temporal lobes (D, arrow). The corticospinal tracts show a high signal intensity in the internal capsules (C), mesencephalon (D), pons (E), and medulla oblongata (F). The upper (arrowhead) and middle cerebellar peduncles are affected (D and E). High signal intensities are seen in the corpus callosum (B). Its posterior part (B) is very thin.
A–F, Fluid-attenuated inversion recovery (FLAIR), 10,000/140/2500.
G, Turbo spin-echo (TSE), 8116/100.
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Fig 5. A, Coronal formalin-fixed section at the level of the basal ganglia of a 69-year-old man. White matter is reduced and there are irregularly shaped miscolored areas of demyelination (asterisk).
B, Whole-brain microscopic section from the same level. Widespread diffuse loss of myelin (pallor of the blue color) in the centrum semiovale bilaterally (asterisk, arrows) with sparing of the U fibers (arrows). The myelin is better preserved in the temporal lobes (T). The Sylvian fissures are widened and the lateral ventricles moderately dilated, which indicates mild brain atrophy.
C–F, Consecutive sections from the parietal white matter of a 56-year-old woman. C, Diffuse loss of myelin. Note the less severe pallor around the blood vessel (bv), which indicates that the myelin loss is not perivascular as in multiple sclerosis. Luxol fast blue-cresyl violet (LFB-CV) staining. D, There is only minor astrogliosis in the demyelinated area. The astrocytes (brown cells) are rather plump with irregular processes. Anti-glial fibrillar acidic protein (GFAP) + hematoxylin counterstain. E, No lymphocyte infiltrates are present, but scattered macrophages (brown cells) are seen in the demyelinated area. Anti-CD68 + hematoxylin counterstain. The number of oligodendroglial nuclei (blue) in panels D and E appears the same irrespective of the intensity of the myelin stain (C). F, The density of neurofilament positive axons did not appear to be affected by demyelination. Anti-neurofilament + hematoxylin counterstain. Scale bar, 100 µm.
G, Cerebellum of the 69-year-old man. Severe diffuse loss of myelin in the cerebellar white matter, more marked centrally (C) than in the folia (asterisk). The number of Purkinje cells (2 preserved cells marked with arrows) is greatly decreased, but there is only slightly increased number of reactive Bergmann astrocytes. LFB-CV. Scale bar, 100 µm.
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