PDF(Pubmed)
Abstract：
A 16-year-old adolescent boy presented with recurrent episodes of weakness and numbness. Brain MRI demonstrated subcortical, juxtacortical, and periventricular white matter T2 hyperintensities with gadolinium enhancement. CSF was positive for oligoclonal bands that were not present in serum. Despite treatment with steroids, IV immunoglobulins, plasmapheresis, and rituximab, he continued to have episodes of weakness and numbness and new areas of T2 hyperintensity on imaging. Neuro-ophthalmologic examination revealed a subclinical optic neuropathy with predominant involvement of the papillomacular bundle. Genetic evaluation and brain biopsy led to an unexpected diagnosis.
摘要：
一名16岁的青春期男孩表现出反复发作的虚弱和麻木。脑部MRI显示皮质下，并列，脑室周围白质T2高信号伴钆增强。CSF对血清中不存在的寡克隆带呈阳性。尽管用类固醇治疗，IV免疫球蛋白，血浆置换,利妥昔单抗,他在影像学上继续出现虚弱和麻木的发作以及新的T2高强度区域。神经眼科检查显示亚临床视神经病变，主要累及乳头状瘤束。遗传评估和脑活检导致了意外的诊断。
