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  • Title: A possible Japanese male case of Pelizaeus-Merzbacher disease.
    Author: Hayashi T, Ichiyama T, Koga M, Okino F, Katayama K, Kobayashi K.
    Journal: Brain Dev; 1990; 12(4):439-43. PubMed ID: 2240467.
    Abstract:
    A boy with an abnormal auditory brain stem response showing only a wave I-II pattern, congenital nystagmus, psycho-motor retardation, pyramidal tract signs and muscular hypotonia was reported. The auditory brain stem response, short latency somatosensory-evoked potential, somatosensory-evoked potential and visual-evoked potential indicated an intramedullary disorder of conduction. Magnetic resonance imaging revealed marked high signal intensity of the cerebral white matter in T2-weighted images, suggesting hypomyelination. A muscle biopsy specimen showed neurogenic changes with mild myogenic changes.
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