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

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).