Harmel Jens, Ringelstein Marius, Ingwersen Jens, Mathys Christian, Goebels Norbert, Hartung Hans-Peter, Jarius Sven, Aktas Orhan
BMC Neurol. 2014 Dec 17;14:247. doi: 10.1186/s12883-014-0247-3.
Neuromyelitis optica (NMO) is a severely disabling inflammatory disorder of the central nervous system and is often misdiagnosed as multiple sclerosis (MS). There is increasing evidence that treatment options shown to be beneficial in MS, including interferon-β (IFN-β), are detrimental in NMO.
We here report the first Caucasian patient with aquaporin 4 (AQP4) antibody (NMO-IgG)-seropositive NMO presenting with a tumefactive brain lesion on treatment with IFN-β. Disease started with relapsing optic neuritis and an episode of longitudinally extensive transverse myelitis (LETM) in the absence of any brain MRI lesions or cerebrospinal fluid-restricted oligoclonal bands. After initial misdiagnosis of multiple sclerosis (MS) the patient received subcutaneous IFN-β1b and, subsequently, subcutaneous IFN-β1a therapy for several years. Under this treatment, the patient showed persisting relapse activity and finally presented with a severe episode of subacute aphasia and right-sided hemiparesis due to a large T2 hyperintensive tumefactive lesion of the left brain hemisphere and a smaller T2 lesion on the right side. Despite rituximab therapy two further LETM episodes occurred, resulting in severe neurological deficits. Therapeutic blockade of the interleukin (IL)-6 signalling pathway by tocilizumab was initiated, followed by clinical and radiological stabilization.
Our case (i) illustrates the relevance of correctly distinguishing NMO and MS since these disorders differ markedly in their responsiveness to immunomodulatory and -suppressive therapies; (ii) confirms and extends a previous report describing the development of tumefactive brain lesions under IFN-β therapy in two Asian NMO patients; and (iii) suggests tocilizumab as a promising therapeutic alternative in highly active NMO disease courses.
视神经脊髓炎（NMO）是一种严重致残的中枢神经系统炎性疾病，常被误诊为多发性硬化症（MS）。越来越多的证据表明，在MS中显示有益的治疗方法，包括干扰素-β（IFN-β），在NMO中却是有害的。
我们在此报告首例高加索裔水通道蛋白4（AQP4）抗体（NMO-IgG）血清阳性的NMO患者，该患者在接受IFN-β治疗时出现了瘤样脑病变。疾病始于复发性视神经炎和一次纵向广泛横贯性脊髓炎（LETM）发作，当时没有任何脑部MRI病变或脑脊液限制性寡克隆带。在最初被误诊为多发性硬化症（MS）后，该患者接受了皮下注射IFN-β1b治疗，随后又接受了皮下注射IFN-β1a治疗数年。在这种治疗下，患者持续有复发活动，最终因左侧脑半球一个大T2高信号瘤样病变和右侧一个较小的T2病变，出现了严重的亚急性失语和右侧偏瘫发作。尽管使用了利妥昔单抗治疗，仍发生了另外两次LETM发作，导致严重的神经功能缺损。开始使用托珠单抗对白介素（IL）-6信号通路进行治疗性阻断，随后病情在临床和影像学上得到稳定。
我们的病例（i）说明了正确区分NMO和MS的重要性，因为这些疾病对免疫调节和抑制疗法的反应明显不同；（ii）证实并扩展了之前的一份报告，该报告描述了两名亚洲NMO患者在IFN-β治疗下出现瘤样脑病变的情况；（iii）提示托珠单抗作为高活性NMO病程中有前景的治疗选择。
