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Abstract
A case of classical type Pelizaeus-Merzbacher disease was reported. This patient exhibited
marked motor and mental developmental delay, and nystagmus, with a positive familial
history. Electrophysiological studies, such as on brainstem auditory evoked potentials,
blink reflex and somatosensory evoked potentials, suggested marked disturbance of
nerve conduction in CNS. T2-weighted magnetic resonance (MR) images revealed non-progressive diffuse T2 prolongation
of cerebral white matter after a 2-year interval, indicating congenital hypomyelination
in CNS. A newly developed magnetic resonance diffusion imaging method demonstrated
the existence of diffusional anisotropy in the corpus callosum, internal capsule,
and white matter of the frontal lobe. Although the diffusional anisotropy was considered
to depend on the well-developed multiple layers of myelin around the axons, the imaging
data of this patient demonstrated that the diffusional anisotropy did not necessarily
depend on those multiple layers. These results may indicate the potential usefulness
of MR diffusion imaging, combined with electrophysiological studies and conventional
MR imaging, for analyzing the lesions of the cerebral white matter.
Keywords
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Article info
Publication history
Accepted:
December 17,
1993
Received:
April 22,
1993
Identification
Copyright
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.
