Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Ontario, Canada.
Am J Med Genet A. 2010 Mar;152A(3):748-52. doi: 10.1002/ajmg.a.33305.
Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelination disorder, characterized by significant developmental delay, truncal hypotonia, spasticity, dysarthria, and nystagmus. Conventional magnetic resonance (MR) images demonstrate discordance of myelin maturation, while newer MR techniques, such as MR spectroscopy and diffusion tensor imaging, may be helpful in disease assessment. We report on a family of two young boys and their mother who share the same unusual 4-bp deletion of the PLP1 gene: c51_54 del TTCC, causing truncation of the PLP1 in exon 2. The brain MRI appearances in this unique deletion, using newer MR imaging, are described.
Pelizaeus-Merzbacher 病（PMD）是一种罕见的脱髓鞘疾病，其特征为显著的发育迟缓、躯干性低张力、痉挛、构音障碍和眼球震颤。常规磁共振成像（MR）显示髓鞘成熟的不一致，而新型 MR 技术，如磁共振波谱和弥散张量成像，可能有助于疾病评估。我们报告了一个有两个小男孩和他们的母亲的家庭，他们都携带相同的 PLP1 基因的异常 4 个碱基对缺失：c51_54 del TTCC，导致外显子 2 中的 PLP1 截断。使用新型 MR 成像描述了这种独特缺失的脑 MRI 表现。
