Villarreal Joseph V, Abraham Maria J, Acevedo Joanne Allieza G, Rai Prashant K, Thottempudi Neeharika, Fang Xiang, Gogia Bhanu
The University of Texas Medical Branch School of Medicine, 301 University Boulevard, Ashbel Smith Building, Galveston, TX 77555-1317, USA.
The University of Texas Medical Branch, Department of Neurology, 301 University Boulevard, John Sealy Annex Room 9.128, Galveston, TX 77555-0539, USA.
Mult Scler Relat Disord. 2021 Feb;48:102699. doi: 10.1016/j.msard.2020.102699. Epub 2020 Dec 26.
Tumefactive MS is a rare variant of multiple sclerosis that poses a diagnostic and a therapeutic challenge due to its close resemblance to central nervous neoplasms on MRI. TMS is defined as acute large >2 cm, tumour like demyelinating lesion in the CNS that may occur with surrounding edema, mass effect and ring enhancement. Some of the known mimickers are CNS lymphoma, metastasis, primary brain tumour such as glioblastoma, brain abscesses. The prevalence of TMS is estimated to be 1-3/1000 cases. There are also reported cases of drug induced TMS cases especially with fingolimod and natalizumab therapy. We report the occurrence of tumefactive MS at our institution.
We retrospectively reviewed the chart of the patients with multiple sclerosis including initial visits, hospitalizations, clinic follow up notes and collected data on demographic, ethnicity, presenting signs and symptoms, imaging modalities, cerebrospinal fluid analysis results, disease progression. After reviewing the charts, we isolated the patients with tumefactive multiple sclerosis from the group and summarized the cases. Four of these patients were managed with Glatiramer acetate, 2 on dimethyl fumarate and 1 on beta interferon with 0-2 clinical flare ups on subsequent years.
Out of 323 patients reviewed with multiple sclerosis or possible multiple sclerosis, 7 carried a diagnosis of tumefactive MS. The age range of these patients were 19 to 62 years old with 4 females and 3 males. Five patients were Caucasian and 2 were Hispanic. Out of seven patients, 6 were newly diagnosed MS following biopsy of the lesion. The histological findings in 3 patients who underwent biopsy demonstrated include reactive gliosis and inflammatory cells predominantly macrophages and lymphocytes while 1 patient showed hypercellular brain tissue with perineuronal satellosis.
Tumefactive MS remains a challenging disease to diagnosis and often times requires a biopsy for definitive diagnosis or to exclude neoplasms, other inflammatory conditions such as neurosarcoidosis. The demographic of the patients in this case series is no different than patients with relapsing remitting multiple sclerosis (RRMS). However, based on our experience, the patients with TMS do respond to disease modifying agents such as Glatiramer acetate and Dimethyl fumarate with similar progression as of RRMS.
瘤样脱髓鞘性多发性硬化（Tumefactive MS）是多发性硬化的一种罕见变体，由于其在磁共振成像（MRI）上与中枢神经系统肿瘤极为相似，给诊断和治疗带来了挑战。TMS被定义为中枢神经系统中急性的、大于2厘米的、类似肿瘤的脱髓鞘病变，可能伴有周围水肿、占位效应和环状强化。一些已知的相似病症包括中枢神经系统淋巴瘤、转移瘤、原发性脑肿瘤如胶质母细胞瘤、脑脓肿。TMS的患病率估计为每1000例中有1 - 3例。也有药物诱导的TMS病例报道，尤其是在使用芬戈莫德和那他珠单抗治疗时。我们报告了我院发生的瘤样脱髓鞘性多发性硬化病例。
我们回顾性地查阅了多发性硬化患者的病历，包括初次就诊、住院、门诊随访记录，并收集了关于人口统计学、种族、临床表现和症状、影像学检查方式、脑脊液分析结果、疾病进展等数据。查阅病历后，我们从该组患者中分离出瘤样脱髓鞘性多发性硬化患者并总结这些病例。其中4例患者接受醋酸格拉替雷治疗，2例接受富马酸二甲酯治疗，1例接受β干扰素治疗，随后几年临床复发0 - 2次。
在323例被诊断为多发性硬化或可能为多发性硬化的患者中，7例被诊断为瘤样脱髓鞘性多发性硬化。这些患者年龄在19岁至62岁之间，4例为女性，3例为男性。5例为白种人，2例为西班牙裔。在7例患者中，6例在病变活检后被新诊断为多发性硬化。3例接受活检的患者的组织学检查结果显示包括反应性胶质增生和以巨噬细胞和淋巴细胞为主的炎性细胞，而1例患者显示脑组织细胞增多伴神经元周围卫星现象。
瘤样脱髓鞘性多发性硬化仍然是一种诊断具有挑战性的疾病，通常需要进行活检以明确诊断或排除肿瘤以及其他炎性疾病，如神经结节病。本病例系列中患者的人口统计学特征与复发缓解型多发性硬化（RRMS）患者无异。然而，根据我们的经验，瘤样脱髓鞘性多发性硬化患者对疾病修饰药物如醋酸格拉替雷和富马酸二甲酯有反应，其病程进展与RRMS相似。
