厄希姆-切斯特病中小脑共济失调的新型副肿瘤机制。
Novel paraneoplastic mechanism for cerebellar ataxia in Erdheim-Chester disease.
发表日期：2023 Sep 11
作者：
Amir Rafati Fard, Juliet Thornton, Alasdair Coles
来源：
Brain Structure & Function
摘要：
我们报道了一例BRAF突变阳性的Erdheim-Chester病，患者出现小脑共济失调。这是首次报道该病例在结构性核磁共振成像没有异常情况下，出现单一的脑脊液产生的寡克隆条带。现在组织细胞增生已被重新定性为肿瘤性疾病，我们推测我们病例中共济失调的机制是副肿瘤性疾病。我们强调了在该疾病中寻找BRAF突变的重要性，因为其存在可导致有效的个体化治疗。© BMJ Publishing Group Limited 2023. 不得进行商业再利用。查看权限和许可。BMJ 出版。
We report a case of BRAF-mutation positive Erdheim-Chester disease presenting with a cerebellar ataxia. This is the first such case to be reported without structural MRI abnormalities but with a single intrathecally produced oligoclonal band. Now that the histiocytoses have been recharacterised as neoplastic, we speculate that the mechanism of the ataxia in our case is paraneoplastic. We highlight the importance of searching for BRAF mutations in this disease, as their presence leads to effective personalised treatments.© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.