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Case Reports
. 2009 Feb;30(2):328-35.
doi: 10.3174/ajnr.A1354. Epub 2008 Oct 22.

MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms

J Sundblom  1 , A Melberg, H Kalimo, A Smits, R Raininko
Affiliations
Case Reports

MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms

J Sundblom et al. AJNR Am J Neuroradiol. 2009 Feb.

Abstract

Background and purpose: MR imaging findings in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms have been described in the brain, but no descriptions of MR imaging findings in the spinal cord have been published. Here, we describe MR imaging findings in the spinal cord in adult-onset ADLD with autonomic symptoms and histopathologic investigations of the spinal cord.

Materials and methods: Twelve subjects from 2 families with adult-onset ADLD with autonomic symptoms identified by clinical investigation underwent MR imaging examination of the spinal cord. Sagittal and transverse sections were obtained. MR imaging examination of the brain was performed in 11 patients. One of the patients underwent postmortem examination, and the spinal cord was subjected to histopathologic analysis.

Results: In all family members with adult-onset ADLD with autonomic symptoms, even in the asymptomatic person, the spinal cord was thin. All examined family members also had a slight general white matter signal intensity (SI) increase in the whole spinal cord, mainly visible in T2-weighted transverse images. The pathologic examination revealed a discrete demyelination in the spinal cord. Brain MR imaging also showed increased T2 SI in the white matter.

Conclusions: The spinal cord is affected in adult-onset ADLD with autonomic symptoms. Findings consist of atrophy and a diffuse T2 SI increase in the white matter. Transverse images are needed to assess these findings. The typical SI changes of the spinal cord are also present in subjects without clinical symptoms of the disease and with very limited changes in the brain.

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Figures

Fig 1.
Fig 1.
Pedigree of family 1 with adult-onset ADLD with autonomic symptoms. Filled circle indicates affected female; filled square, affected male; arrows, family members examined in this study.
Fig 2.
Fig 2.
Sagittal T2-weighted image of the cervical spine in a 49-year-old woman with adult-onset ADLD with autonomic symptoms. Her symptoms consisted of micturition urgency and slight pyramidal affection. The spinal cord is thin, and slight SI changes in the posterior part of the spinal cord, easily mistaken for truncation artifacts, are seen (arrow).
Fig 3.
Fig 3.
T2-weighted MR image of the cervical spine in the most severely affected patient, a man 51 years of age with paraparesis, severe dysautonomia, and ataxia. Severe atrophy of the spinal cord is seen, and diffuse SI changes are not confined to the posterior part of the spinal cord.
Fig 4.
Fig 4.
Transverse T2-weighted images of the spinal cord at the C2 and T6 levels of a healthy control subject (A), along with images of the same levels in an asymptomatic ADLD family member (B) and in the same patients as seen in Figs 2 and 3 (C and D, respectively). In all ADLD family members, a general white matter SI increase is seen and a reduction in the cross-sectional area. The thinning of the spinal cord seems to worsen with progression of symptoms. D, Parts of the dorsal columns have an increased SI indistinguishable from that in white matter SI.
Fig 5.
Fig 5.
Fluid-attenuated inversion recovery images of the brain in the same patient as in Fig 2. Increased white matter SI can be seen beneath the motor cortex and in the upper part of the parietal lobes. The SI changes can be followed along the corticospinal tract including the pyramids (arrow) and in the cerebellar peduncles. A periventricular rim with less increased signal intensity is characteristic of adult-onset ADLD with autonomic symptoms.
Fig 6.
Fig 6.
In the spinal cord, no obvious loss of myelinated fibers, neither in the myelin-stained (A) nor in the silver-stained for axons (B), is detectable at a low magnification. A, Luxol fast blue-cresyl violet. B, Bielschowsky silver. Ventral part down.
Fig 7.
Fig 7.
At a higher magnification, a loss of myelinated fibers can be seen subpially at the periphery of the spinal cord on the right (A and B), associated with moderate reactive astrocytosis (C). A, Luxol fast blue-cresyl violet. B and C, Immunostainings for neurofilament (B) and GFAP (C) with hematoxylin counterstaining. Original magnification: A and B, 40×; C, 20×. The bar in A and B is 100 μm.
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