Case Report: A Case of Severe Clinical Deterioration in a Patient With Multiple Sclerosis

Abstract

Tumefactive multiple sclerosis (MS) is a rare variant of MS that may lead to a rapidly progressive clinical deterioration requiring a multidisciplinary diagnostic workup. Our report describes the diagnostic and therapeutic approach of a rare and extremely severe course of MS. A 51-year-old man with an 8-year history of relapsing-remitting MS (RRMS) was admitted with a subacute progressive left lower limb weakness and deterioration of walking ability. After extensive investigations including repeated MRI, microbiological, serological, cerebrospinal fluid (CSF) studies, and finally brain biopsy, the diagnosis of a tumefactive MS lesion was confirmed. Despite repeated intravenous (IV) steroids as well as plasma exchanges and IV foscarnet and ganciclovir owing to low copy numbers of human herpesvirus 6 (HHV-6) DNA in polymerase chain reaction (PCR) analysis, the patient did not recover. The clinical presentation of tumefactive MS is rare and variable. Brain biopsy for histopathological workup should be considered in immunocompromised patients with rapidly progressive clinical deterioration with brain lesions of uncertain cause.

Phenotyping variants of tumefactive demyelinating lesions according to clinical and radiological features—A case series

“…This might lead to dysregulation of B-cell and plasma cell immune responses by altering the immunoregulatory T-cell phenotype. Occasional reports have identified IgG and complement deposition in TDLs (42)(43)(44)) and a number of reports citing the therapeutic effects of plasma exchange and rituximab imply B-cell and IgG-mediated mechanisms are also important (17,27,40,41). Proven antibody mediated diseases such as NMO-SD are associated with TDLs (4).…”

Diagnostic Challenges and Radiological Spectrum of Tumefactive Multiple Sclerosis: A Case Report Study

“…Low-grade astrocytoma was the most frequent misdiagnosis in 39% of cases, followed by high-grade astrocytoma [ 5 ]. A study reported that differentiating tumefactive multiple sclerosis and intracerebral lymphoma is difficult in immunocompromised patients, thus brain biopsy should be considered [ 10 ]. The literature has described different cases of TMS that have been diagnosed without brain biopsy depending only on radiological and CSF results; however, in some cases, brain biopsy was an essential procedure to confirm the diagnosis and avoid mismanagement [ 11 ].…”

Immunopathology of Tumefactive Demyelinating Lesions-From Idiopathic to Drug-Related Cases

“…In all three well-described cases, the predominant perivascular T cell subtype was CD8 cytotoxic T cells, whereas B cells were few. Creutzfeldt cells have been described in one case ( 93 ), and in another case deposits of complement and immunoglobulins were identified in the lesion as an antibody/complement mediated type of MS, described previously as MS pattern II ( 95 ). An interested case presented by Hashimoto et al ( 97 ) showed the reappearance of a TDL shortly after fingolimod initiation in a woman with a past history of a demyelinating disease beginning with isolated TDL, converted to classical relapsing remitting MS and subsequent new TDL emergence after fingolimod (no biopsy available) ( 97 ).…”

“…A rebound syndrome can occur as an increase in disease activity after treatment cessation in MS, especially in case of natalizumab or fingolimod. Cases with biopsy-proven TDL development have been described in MS patients under fingolimod treatment (93)(94)(95)(96). In all three well-described cases, the predominant perivascular T cell subtype was CD8 cytotoxic T cells, whereas B cells were few.…”