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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.
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Accepted: December 17, 1993
Received: April 22, 1993
© 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.