Kurata K, Itoh M, Uchiyama A, Kurano N, Kumada S, Komine M, Tanuma N, Tomita S, Matsui R
Department of Neuropediatrics, Fuchu Metropolitan Medical Center of Severe Motor and Intellectual Disabilities, Fuchu, Tokyo.
No To Hattatsu. 2000 Nov;32(6):503-8.
Clinical symptoms and MR spectroscopic findings were studied on 4 cases of Pelizaeus-Merzbacher disease including 1 autopsy case. Common symptoms were severe mental retardation and spastic tetraplegia. These cases had nystagmus, and one had involuntary athetotic movement. Genetical diagnosis revealed in 2 cases, duplication of proteolipid protein (PLP) and deletion in 1, whereas one case had no abnormality of PLP gene. MRI indicated the reversal of signal intensities on T1- and T2-weighed images, a characteristic finding of PMD MR spectroscopy demonstrated a pattern of NAA in 3 cases. This was specific to PMD because other white matter diseases show a decrease in NAA. In conclusion, MRS was useful to differentiate PMD from other white matter diseases.
对4例佩利措伊斯-梅茨巴赫病（Pelizaeus-Merzbacher disease，PMD）患者进行了临床症状和磁共振波谱分析研究，其中包括1例尸检病例。常见症状为严重智力发育迟缓及痉挛性四肢瘫。这些病例均有眼球震颤，1例有不自主手足徐动症。基因诊断显示，2例为蛋白脂蛋白（PLP）重复，1例为缺失，而1例PLP基因无异常。MRI显示T1加权像和T2加权像上信号强度反转，这是PMD的特征性表现。磁共振波谱分析在3例中显示出NAA的一种模式。这是PMD所特有的，因为其他白质疾病显示NAA降低。总之，磁共振波谱分析有助于将PMD与其他白质疾病区分开来。
