Abstract
The use of magnetic resonance imaging (MRI) has resulted in the detection of an increasing
number of children with an apparently leukodystrophic white matter. Laboratory tests
and the clinical presentation, however, often do not correspond to any known entity
and the course is sometimes not progressively deteriorating. Such children with white-matter
changes and no known diagnosis were the subject of this Swedish multicentre study,
in which MRI findings and clinical data from 100 children considered to have white-matter
abnormalities were assessed during the period 1992-1995. At reevaluation of MR images
by an established "white-matter group" of neuroradiologists, paediatric neurologists,
neurologists and neurochemists, the MRI signal of the white matter was considered
normal in eleven children and eleven had mainly a grey matter affection. Of the remaining
78 children with white matter abnormalities, a diagnosis was found in 32, but in 46
children no diagnosis could be established. A progressive downhill course characterised
17, probably representing hitherto undefined types of leukodystrophies. Five children
had a relapsing-remitting course, and in 11 it was difficult to establish whether
the course was progressive or stationary. The disease was non-progressive in 13. This
group of non-leukodystrophic white-matter changes obviously represents maldevelopments
of myelin formation, thus dys- or hypomyelination rather than demyelination.
Key words
Leukodystrophy - Leukoencephalopathy - Magnetic resonance imaging - Children
