MRI and CT in an autosomal-dominant, adult-onset leukodystrophy |
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Authors: | M Bergui G B Bradac S Leombruni G Vaula G Quattrocolo |
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Institution: | (1) Department of Neuroradiology, S. Giovanni Battista Hospital, Via Cherasco 15, I-10126 Turin, Italy, IT;(2) Department of Neurology, S. Giovanni Battista Hospital, Via Cherasco 15, I-10126 Turin, Italy, IT |
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Abstract: | We report MRI findings in a family with an autosomal-dominant, adult-onset neurological disorder. The clinical picture, the
white matter changes detected on MRI and the absence of any laboratory abnormality suggested the diagnosis of leukodystrophy
with an unknown biochemical defect. Autosomal-dominant inheritance is extremely rare in this kind of disease, and most reported
families have not undergone MRI. We performed MRI and clinical examination of 17 members of our family; 9 affected subjects,
at different stages of the disease, were detected. The most characteristic MRI findings were initially symmetrical areas of
signal change in the white matter of the trigonal region; demyelination extending thereafter to the frontal and parietal regions,
partially involving subcortical white matter; the temporal lobe and optic radiations were less involved; the internal capsule
and corpus callosum were involved later, in a dorsoventral direction; patchy demyelination was evident in the late stages
in the brain stem; the cerebellum was spared even in the latest stages of the disease. While pathological examination is essential
to characterise and classify these kinds of diseases, MRI can make substantial contributions to understanding their natural
history, and to detect early signs of the disease.
Received: 6 June 1996 Accepted: 9 August 1996 |
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Keywords: | Leukodystrophy adult onset autosomal dominant Magnetic resonance imaging |
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