Algahtani Hussein, Shirah Bader, Alassiri Ali
King Abdulaziz Medical City/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
King Abdullah International Medical Research Center/King Saud bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Mult Scler Relat Disord. 2017 May;14:72-79. doi: 10.1016/j.msard.2017.04.003. Epub 2017 Apr 9.
Tumefactive multiple sclerosis or tumefactive demyelinating lesion (TDL) is one of the rare variants of multiple sclerosis (MS) posing a diagnostic challenge and a therapeutic enigma since it is difficult to distinguish from a true central nervous system (CNS) neoplasm or other CNS lesions on magnetic resonance imaging (MRI). The prevalence of TDL is estimated to be 1-3/1000 cases of MS with an annual incidence of 0.3/100,000. This could be an underestimate due to unavailability of a global MS registry and under-reporting of this condition. TDL may occur at any age with the ages between the 20s and 30s being more frequently affected. The pathogenesis of TDL remains unknown, but some speculations have been made. These include the autoimmune theory based on the close relationship between TDLs and MS, Fingolimod use, Fingolimod cessation, and Natalizumab use. The clinical presentation of patients with TDL is variable and atypical for demyelinating disease due to the differences in size and location of the lesion. In this article, we aim to explore TDL comprehensively and provide an evidence-based approach for diagnosis and treatment. This will result in recommendations that may improve the diagnostic accuracy and treatment outcomes. Detailed history, physical examination, and several MRI imaging can spare patients the need for a brain biopsy. Treatment of acute lesions includes corticosteroids and plasma exchange therapy. When a diagnosis of relapsing-remitting MS is fulfilled, conventional first line MS disease modifying therapy should be used. Available recently published data suggests that Fingolimod should not be used in TDL patients, mainly due to the possibility of more than just a chance association between TDLs and initiation of Fingolimod. The use of several new MS disease modifying therapy for the management of TDL remains to be studied. Further well-conducted research including multi-center trials is needed to explain several ambiguous aspects related to the etiology and management of TDL.
瘤样多发性硬化或瘤样脱髓鞘病变（TDL）是多发性硬化（MS）的罕见变异类型之一，因其在磁共振成像（MRI）上难以与真正的中枢神经系统（CNS）肿瘤或其他CNS病变区分开来，故而构成了诊断挑战和治疗难题。TDL的患病率估计为每1000例MS病例中有1 - 3例，年发病率为十万分之0.3。由于缺乏全球MS登记系统以及对该病症报告不足，这可能是一个低估的数据。TDL可发生于任何年龄，20多岁至30多岁的人群更易受累。TDL的发病机制尚不清楚，但已有一些推测。这些推测包括基于TDL与MS之间密切关系的自身免疫理论、使用芬戈莫德、停用芬戈莫德以及使用那他珠单抗。由于病变大小和位置的差异，TDL患者的临床表现多样且不符合脱髓鞘疾病的典型表现。在本文中，我们旨在全面探讨TDL，并提供基于证据的诊断和治疗方法。这将产生可能提高诊断准确性和治疗效果的建议。详细的病史、体格检查以及多次MRI成像可使患者无需进行脑活检。急性病变的治疗包括使用皮质类固醇和血浆置换疗法。当符合复发缓解型MS的诊断时，应使用传统的一线MS疾病修饰疗法。最近公布的数据表明，TDL患者不应使用芬戈莫德，主要是因为TDL与开始使用芬戈莫德之间可能不仅仅是偶然关联。使用几种新的MS疾病修饰疗法治疗TDL仍有待研究。需要进一步开展包括多中心试验在内的高质量研究，以解释与TDL病因和管理相关的几个模糊方面。
