A case of refractory tumefactive multiple sclerosis in an African American woman

Conor Kelly , Jennings Gyedu , Rock Heyman , Cigdem Isitan Alkawadri
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Abstract

Background

Tumefactive multiple sclerosis (TMS) is a rare subtype of multiple sclerosis (MS) that poses a diagnostic and therapeutic challenge, with relatively little available published data. Though studies have demonstrated similar disease course in TMS with non-tumefactive disease, refractory cases requiring early escalation of therapy are noted and risk factors are unclear. Furthermore, no studies have presented data specifically on adult African American patients with TMS.

Case report

We present a case of TMS refractory to steroids and plasma exchange in an African-American woman. Disease progression was halted after treatment with cyclophosphamide. The patient was later transitioned to rituximab maintenance therapy.

Conclusions

This case contributes to the limited data on disease course and treatment response of this rare disease process in a population that is under-represented in the literature. We note the importance of further studies to identify risk factors for refractory disease requiring early initiation of high-efficacy disease modifying treatment (DMT).

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非裔美国妇女难治性肿瘤性多发性硬化症1例
背景:肿瘤性多发性硬化症(TMS)是多发性硬化症(MS)的一种罕见亚型,其诊断和治疗具有挑战性,可获得的已发表数据相对较少。虽然研究表明经颅磁刺激与非肿瘤性疾病的病程相似,但需要早期升级治疗的难治性病例被注意到,危险因素尚不清楚。此外,还没有研究提供针对成年非裔美国人经颅磁刺激患者的具体数据。病例报告:我们报告一例非裔美国妇女经颅磁刺激对类固醇和血浆置换难治的病例。环磷酰胺治疗后疾病进展停止。患者随后转入利妥昔单抗维持治疗。结论:该病例有助于在文献中代表性不足的人群中对这种罕见疾病的病程和治疗反应提供有限的数据。我们注意到进一步研究确定需要早期开始高效疾病修饰治疗(DMT)的难治性疾病的危险因素的重要性。
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