Fernández-Eulate Gorka, Muñoz-Lopetegi Amaia, Ruiz Irune, Urtasun Miguel
Neurology Department, Hospital Universitario Donostia, San Sebastian, Spain
Maurice Wohl Neuroscience Institute, King's College London, London, UK.
BMJ Case Rep. 2019 Nov 19;12(11):e228280. doi: 10.1136/bcr-2018-228280.
Erdheim-Chester disease (ECD) is a rare histiocytosis that may affect the central nervous system (CNS). Infiltration by the disease occurs throughout the neuroaxis, usually involving the dentate nucleus and the pons, manifested as a pyramido-cerebellar syndrome. CNS involvement is an adverse prognostic factor which warrants prompt evaluation and treatment. mutation occurs in more than half of the cases and has become central in the therapeutic approach. There is rapidly growing evidence that BRAF inhibitors such as vemurafenib or dabrafenib are effective in treating CNS-spread disease. We present a patient with -V600E-mutant ECD with a classical pyramido-ataxic onset of disease who improved after prompt diagnosis with vemurafenib treatment as first-line therapy.
厄德里希-切斯特病（ECD）是一种罕见的组织细胞增多症，可能会影响中枢神经系统（CNS）。该病在整个神经轴发生浸润，通常累及齿状核和脑桥，表现为锥体小脑综合征。中枢神经系统受累是一个不良预后因素，需要及时评估和治疗。超过半数的病例发生 突变，这已成为治疗方法的核心。越来越多的证据表明，维莫非尼或达拉非尼等BRAF抑制剂在治疗中枢神经系统播散性疾病方面有效。我们报告了一名患有-V600E突变型ECD的患者，其疾病起病具有典型的锥体共济失调症状，在以维莫非尼治疗作为一线治疗方案进行快速诊断后病情有所改善。
