Pavlidou Efterpi, Ramachandran Vijaya, Govender Veronica, Wilson Clare, Das Rini, Vlachou Victoria, Pavlou Evangelos, Saggar Anand, Mankad Kshitij, Kinali Maria
Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, United Kingdom.
South West Thames Regional Genetics Laboratory, St George's Hospital, NHS Foundation Trust, London, United Kingdom.
Brain Dev. 2017 Mar;39(3):271-274. doi: 10.1016/j.braindev.2016.09.012. Epub 2016 Oct 25.
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients.
佩利措伊斯-梅茨巴赫病（PMD）是一种罕见的X连锁疾病，其特征是由于PLP1基因突变导致中枢神经系统髓鞘形成不足。PLP1基因的某些突变与特定的临床表型和神经影像学表现相关。我们在此报告PLP1基因的一种新突变，该突变存在于两名患有PMD的兄弟姐妹中，伴有视神经增粗这一罕见且多变的神经影像学表现。据我们所知，这是首次鉴定出PLP1基因的这种新突变H133P，并在临床上发现其与PMD患者的视神经增粗有关。
