A possible Japanese male case of Pelizaeus-Merzbacher disease.
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.
Hayashi
T
T
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Ichiyama
T
T
Koga
M
M
Okino
F
F
Katayama
K
K
Kobayashi
K
K
D001921:Brain / Q000473:pathology; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000473:pathology; D016057:Evoked Potentials, Auditory, Brain Stem; D005073:Evoked Potentials, Somatosensory; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000209:etiology; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000209:etiology