MRI AND CT IN AN AUTOSOMAL-DOMINANT, ADULT-ONSET LEUKODYSTROPHY

We report MRI findings in a family with an autosomal-dominant, adult-o nset neurological disorder. The clinical picture, the white matter cha nges detected on MRI and the absence of any laboratory abnormality sug gested the diagnosis of leukodystrophy with an unknown biochemical def ect. Autosomal-dominant inheritance is extremely rare in this kind of disease, and most reported families have not undergone MRI. We perform ed MRI and clinical examination of 17 members of our family; 9 affecte d subjects, at different stages of the disease, were detected. The mos t characteristic MRI findings were initially symmetrical areas of sign al change in the white matter of the trigonal region; demyelination ex tending thereafter to the frontal and parietal regions, partially invo lving subcortical white matter; the temporal lobe and optic radiations were less involved; the internal capsule and corpus callosum were inv olved later, in a dorsoventral direction; patchy demyelination was evi dent in the late stages in the brain stem; the cerebellum was spared e ven in the latest stages of the disease. While pathological examinatio n is essential to characterise and classify these kinds of diseases, M RI can make substantial contributions to understanding their natural h istory, and to detect early signs of the disease.