Nezu A
Department of Pediatrics, Yokohama City University, School of Medicine, Japan.
Brain Dev. 1995 May-Jun;17(3):175-81. doi: 10.1016/0387-7604(95)00028-a.
The Neurophysiological characteristics of Pelizaeus-Marzbacher disease (PMD) were studied in four Japanese patients aged between 5 and 13 years. Pendular spontaneous nystagmus was always recorded with a frequency between 2.5 and 4 Hz, and abnormal saccades with an almost twofold prolongation in onset time and 50% decrease in velocity were noted. Brainstem auditory evoked potentials consistently demonstrated severely altered waves II to V, following a normal wave I, despite normal hearing acuity. Somatosensory evoked potentials (SEPs) were always absent between brainstem components and early cortical responses. Late cortical components of SEPs and visual evoked potentials with significantly prolonged latencies were recorded in the three younger cases having normal sensory and visual acuity (N35 of SEP, 73.1 +/- 2.1 ms; N75 of VEP, 129.0 +/- 12.7 ms; mean +/- S.D.), while these peaks were absent in the oldest case having the most severe handicap. In motor evoked potentials (MEPs), R1 of blink reflex with significantly prolonged latency (14.9 +/- 1.48ms) was always obtained, and no subsequent R2 was elicited. Magnetic transcortical stimulation elicited no MEPs of the thenar even in the facilitating condition on voluntary contraction despite mild weakness of the thenar, while normal MEPs were always elicited on cervical stimulation. These electrophysiological findings were consistent with extensive conduction slowing involving the brainstem to the cerebrum, which seemed to be accompanied by conduction block in motor systems rather than sensory systems. Although each of the results was not specific, in combination they suggested the characteristics of diffuse brain dysmyelination in PMD.
对4名年龄在5至13岁之间的日本佩利措伊斯-梅茨巴赫病（PMD）患者的神经生理特征进行了研究。总是记录到频率在2.5至4赫兹之间的钟摆样自发性眼球震颤，并且注意到异常扫视，其起始时间几乎延长了两倍，速度降低了50%。尽管听力敏锐度正常，但脑干听觉诱发电位始终显示在正常的波I之后，波II至V严重改变。体感诱发电位（SEP）在脑干成分和早期皮层反应之间始终缺失。在三名感觉和视力正常的较年轻病例中记录到SEP的晚期皮层成分和视觉诱发电位，其潜伏期显著延长（SEP的N35为73.1±2.1毫秒；VEP的N75为129.0±12.7毫秒；平均值±标准差），而在残疾最严重的最年长病例中这些峰值缺失。在运动诱发电位（MEP）中，始终获得眨眼反射的R1，其潜伏期显著延长（14.9±1.48毫秒），并且未引出随后的R2。即使在对掌侧肌无力进行随意收缩的易化条件下，磁刺激皮层也未引出对掌侧的MEP，而在颈部刺激时始终能引出正常的MEP。这些电生理结果与从脑干到大脑广泛的传导减慢一致，这似乎伴随着运动系统而非感觉系统的传导阻滞。虽然每个结果都不具有特异性，但综合起来它们提示了PMD中弥漫性脑髓鞘形成异常的特征。
