Abstract
Atypical forms of demyelinating diseases with tumor-like lesions and aggressive course represent a diagnostic and therapeutic challenge for neurologists. Herein, we describe a 50-year-old woman presenting with subacute onset of left hemiparesis, memory difficulties and headache. Brain MRI revealed a tumefactive right frontal-parietal lesion with perilesional edema, mass effect and homogenous post-contrast enhancement, along with other small atypical lesions in the white-matter. Brain biopsy of cerebral lesion ruled out lymphoma or any other neoplastic process and patient placed on corticosteroids with complete clinical/radiological remission. Two years after disease initiation, there was disease exacerbation with reappearance of the tumor-like mass. The patient initially responded to high doses of corticosteroids but soon became resistant. Plasma-exchange sessions were not able to limit disease burden. Resistance to therapeutic efforts led to a second biopsy that showed perivascular demyelination, predominantly consisting of macrophages, with a small number of T and B lymphocytes, and the presence of reactive astrocytes, typical of Creutzfeldt-Peters cells. The patient received high doses of cyclophosphamide with substantial clinical/radiological response but relapsed after 7-intensive cycles. She received 4-weekly doses of rituximab with disease exacerbation and brainstem involvement. She eventually died with complicated pneumonia. We present a very rare case of recurrent tumefactive demyelinating lesions, with atypical tumor-like characteristics, with initial response to corticosteroids and cyclophosphamide, but subsequent development of drug-resistance and unexpected exacerbation upon rituximab administration. Our clinical case raises therapeutic dilemmas and points to the need for immediate and appropriate immunosuppression in difficult to treat tumefactive CNS lesions with Marburg-like features.
Highlights
Tumefactive demyelinating lesions (TDL), characterized by the presence of large (>2 cm), tumor-like lesions in CNS with perilesional edema, mass effect and/or broken ring-enhancement on Magnetic resonance imaging (MRI) imaging, require a careful differential diagnosis, mainly ruling out an underlying tumor-mimicker [1, 2]
Fulminant demyelinating diseases represent a diagnostic challenge for clinicians and include acute disseminated encephalomyelitis, multiple sclerosis variants (Marburg variant, Tumefactive Multiple Sclerosis (MS), Balo’s concentric sclerosis) and neuromyelitis optica spectrum disorders [15]
Tumefactive demyelination is considered to be not a distinct disease entity but rather a type of lesions encountered in different disease settings with Multiple Sclerosis and its variants to be the most prevalent [5]
Summary
Tumefactive demyelinating lesions (TDL), characterized by the presence of large (>2 cm), tumor-like lesions in CNS with perilesional edema, mass effect and/or broken ring-enhancement on MRI imaging, require a careful differential diagnosis, mainly ruling out an underlying tumor-mimicker [1, 2]. Magnetic resonance imaging (MRI) of the brain revealed a tumefactive right frontal-parietal lesion (T2/FLAIR hyperintense lesion), with perilesional edema, mass effect and with homogenous post-contrast enhancement, along with other small atypical lesions in the white matter (Figure 1). PLEX was unable to control the disease burden and a new brain imaging showed an expansion of the tumefactive lesion that involved more white matter areas, with more pronounced insult of the centrum semiovale, expansion to the left hemisphere, extensive invasion of the cortex and more Gd (gadolinium)-enhancing areas (Figure 1). We observed the presence of reactive astrocytes with concomitant presence of nuclei with ’granular mitosis’, typical of CreutzfeldtPeters cells, frequently seen in tumefactive demyelinating lesions Both lymphoma and Progressive multifocal leukoencephalopathy (PML) were excluded (Figure 2). Post-mortem brain tissue examination was indicative of demyelinating lesions of the CNS without evidence of a neoplastic process
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