Tumefactive demyelination is a rare inflammatory demyelinating disorder of the central nervous system characterized by large, space-occupying lesions that often mimic intracranial neoplasms, leading to diagnostic and therapeutic challenges this study characterizes various clinical presentation, radiological features, and outcomes of patients with tumefactive demyelination.

Paraneoplastic Tumefactive Demyelination Associated with Testicular Seminoma.

Background: Tumefactive demyelination (TD) is a rare variant of multiple sclerosis (MS) characterized by tumor-like lesions that often require aggressive management. Genome-wide association studies (GWAS) identified variants associated with MS; similar analyses in TD are lacking. Objective: A GWAS was performed to identify variants associated with TD. Methods: The case–control study included 142 TD cases and 293 controls. TD patients were required to have a demyelinating event and magnetic resonance imaging (MRI) showing one or more lesions. Controls were patients without a neurologic or systemic inflammatory disease or cancer. Logistic regression was used to compare cases versus controls for each variant; age, sex, and principal components were included as covariates. A p-value threshold of 5 × 10−8 was GWAS significant and 5 × 10−6 nominally significant. A polygenic risk score (PRS) was compared across TD and controls. Results: Variants on chromosome 14 (rs117797734, p = 2.06 × 10−11, odds ratio (OR) = 13.14) and chromosome 6 (most significant rs6936540, p = 5.5 × 10−7, OR = 2.61) near DCBLD1 were significant. Seven non-MHC and two MHC variants associated with MS were associated with TD. The PRS was significantly higher in TD versus controls. Conclusion: We identified novel regions associated with TD, demonstrating the importance of performing GWAS in homogeneous subtypes of MS. Further validation and functional experiments are necessary.

Tumefactive demyelination as the first presentation of MOG ab-associated disease.

Tumefactive demyelination (TD) is often misdiagnosed as central nervous system malignancy. We report on 4 patients 65 years or older with TD whose initial misdiagnosis led to biopsy or resection. This series draws attention to TD as an uncommon cause of cerebral lesions in older patients. We highlight the importance of MRI and ancillary tests to diagnose TD and avoid invasive investigations.

Objectives: Tumefactive demyelination is a rare form of multiple sclerosis which is characterised by solitary, acute, demyelinating lesions in the central nervous system, usually larger than 2 cm, accompanied by surrounding oedema. They often present with features of mass effect and pose a ring enhancement on neuroimaging along with ill-defined border, central necrosis and perilesional oedema. Being clinically benign its pathology is till date unknown and debatable, and it may occur alongside other conditions like Sjögren’s syndrome, neuromyelitis optica, systemic lupus erythematosus or could occur post-acute haemorrhagic leukoencephalitis and acute disseminated encephalomyelitis, and sometimes certain medications pose as etiological factors. Methodology: We report a case of a middle-aged man who presented with a history of intermittent diminished vision in the right eye specifically in the temporal field alongside headache which was aggravated on defecation. These clinical features overlapped with those of intracranial space occupying lesions, infections or inflammatory conditions but all investigations done, ruled out such possibilities. MR spectroscopy findings and other investigations, further paved the diagnosis. Patient was treated with pulse therapy of intravenous methylprednisolone. Results: Post-steroid therapy, progressive improvement was seen clinically and radiologically, eventually leading to complete recovery. Overall, tumefactive demyelination carries a good prognosis since majority of the cases have a benign nature and are steroid responsive.

Teaching neuroimage: PML presenting as tumefactive demyelination in an immunocompetent person.

Paradoxical Tuberculosis Reaction Presenting as Tumefactive Demyelination of the Central Nervous System—The Crossroad Between Infection and Immunity

Paraneoplastic Tumefactive Demyelination with Anti-LUZP4 Antibody Associated with Metastatic Seminoma: A Case Report (P3-8.004)

Balo concentric sclerosis, an emerging variant of multiple sclerosis: A case-series and literature review.

A Rare Case of Tumefactive Demyelination Presenting as Stroke.

Diagnosis of tumefactive demyelination can be challenging. The diagnosis of indeterminate brain lesions on MRI often requires tissue confirmation via brain biopsy. Noninvasive methods for accurate diagnosis of tumor and nontumor etiologies allows for tailored therapy, optimal tumor control, and a reduced risk of iatrogenic morbidity and mortality. Tumefactive demyelination has imaging features that mimic isocitrate dehydrogenase wild-type glioblastoma (IDHwt GBM). We hypothesized that deep learning applied to postcontrast T1-weighted (T1C) and T2-weighted (T2) MRI can discriminate tumefactive demyelination from IDHwt GBM. Patients with tumefactive demyelination (n = 144) and IDHwt GBM (n = 455) were identified by clinical registries. A 3D DenseNet121 architecture was used to develop models to differentiate tumefactive demyelination and IDHwt GBM by using both T1C and T2 MRI, as well as only T1C and only T2 images. A 3-stage design was used: 1) model development and internal validation via 5-fold cross validation by using a sex-, age-, and MRI technology-matched set of tumefactive demyelination and IDHwt GBM, 2) validation of model specificity on independent IDHwt GBM, and 3) prospective validation on tumefactive demyelination and IDHwt GBM. Stratified area under the receiver operating curves (AUROCs) were used to evaluate model performance stratified by sex, age at diagnosis, MRI scanner strength, and MRI acquisition. The deep learning model developed by using both T1C and T2 images had a prospective validation AUROC of 88% (95% CI: 0.82-0.95). In the prospective validation stage, a model score threshold of 0.28 resulted in 91% sensitivity of correctly classifying tumefactive demyelination and 80% specificity (correctly classifying IDHwt GBM). Stratified AUROCs demonstrated that model performance may be improved if thresholds were chosen stratified by age and MRI acquisition. MRI can provide the basis for applying deep learning models to aid in the differential diagnosis of brain lesions. Further validation is needed to evaluate how well the model generalizes across institutions, patient populations, and technology, and to evaluate optimal thresholds for classification. Next steps also should incorporate additional tumor etiologies such as CNS lymphoma and brain metastases.

IntroductionVacuoles, E1 enzyme, X-linked (Xp11.3), autoinflammatory, somatic (VEXAS) syndrome is a novel acquired disorder of adulthood, discovered in 2020. Neurological symptoms and sequelae of this new disease are underreported and rarer than their systemic counterparts. We aim to shed light upon the neurological manifestations of this disease by reporting a complex case of a 58-year-old male with a biopsy supporting tumefactive demyelination in the setting of VEXAS syndrome.Case ReportA 58-year-old male with a history of VEXAS syndrome (diagnosed in 2020 as only myelodysplastic syndrome (MDS)), diabetes mellitus, and relapsing polychondritis presented to our institution’s emergency department with an acute onset of right lower extremity weakness and headache in April 2022. His weakness progressed to right lower extremity hemiparesis with extinction in sensory modality. He was evaluated for acute stroke, with initial differential diagnosis favoring acute venous infarct from cerebral venous thrombosis (CVT) secondary to MDS. However, brain magnetic resonance imaging (MRI) suggested tumefactive demyelination or acute disseminated encephalomyelitis (ADEM) with a left parietal focus, and diagnostic catheter cerebral angiogram found no evidence of CVT. The patient then developed partial status epilepticus without a history of seizures and later became obtunded with global aphasia upon eventual awakening. Subsequent MRI substantiated tumefactive demyelination or glioma. The lesion was biopsied, displaying no neoplastic cells, supporting diagnosis of tumefactive demyelination. The patient received 1 g of daily solumedrol for 5 days and a few months of prednisone taper, with resolution of mental status despite persistence of right-sided hemiplegia and global aphasia. In March 2023, the patient’s genetic testing revealed a UBA1 gene mutation, solidifying a diagnosis of VEXAS syndrome. At this time, the patient exhibited Broca’s aphasia with intact comprehension. He was neurologically stable in a wheelchair.ConclusionTo our knowledge, this case is the first reported in the literature of a VEXAS syndrome-associated central demyelination. Further research into the molecular mimicry and pathogenesis of VEXAS syndrome and its neurobiological involvement is strongly encouraged. A growing body of literature will increase comprehension of this novel disease and its role in cerebral pathology.

Etiology and Characteristics of Pseudotumoral Lesions and Tumefactive Demyelination in Multiple Sclerosis

Multiple Tumefactive Demyelination Lesions in HIV: Long-term Follow-Up

Paraneoplastic Neuromyelitis Optica Associated with Renal Cell Carcinoma Presenting with Tumefactive Demyelination Lesions

Abstract Purpose: Tumefactive demyelination (TD) lesion and its subtype Balo’s concentric sclerosis (BCS), are rare manifestations of central nervous system demyelinating disease. Because of its rarity, physicians might hesitate in reaching a diagnosis or initiating steroid pulse therapy. This study aims at pinpointing the key neuroimaging features to distinguish TD lesions from surgical conditions, and illustrating the clinical outcomes of patients with TD lesions. Case report: Two of the three patients had solitary TD lesions, one 47-year-old man presenting with newly onset seizure and another 54-year-old women suffering from progressive hemiparesis. The male patient underwent craniotomy for mass excision without further steroid therapy, while the female patient received methylprednisolone pulse therapy only. Both patients remained free of clinical and radiological relapses over the past 6-7 years, leading to the diagnosis of clinically isolated syndrome. The third case is a 30-year-old woman with subacute onset of dysarthria and hemiparesis. She had two BCS lesions along with other demyelinating lesions in the juxtacortical and periventricular regions, cerebellar peduncles, and spinal cord, fulfilling dissemination in time and space. Her neurological deficits resolved after pulse therapy, and she received long-term disease modifying therapy for multiple sclerosis. Conclusion: This study underscores the diverse neuroimaging and clinical presentations of patients with TD lesions, and emphasizes the importance of clinical vigilance regarding this rare condition.

An Ayurvedic Management of Tumefactive demyelination of Spinal cord w.s.r to Pangu - A Case Report

A minority of initial multiple sclerosis (MS) presentations clinically or radiologically resemble other central nervous system (CNS) pathologies, acute disseminated encephalomyelitis (ADEM) or tumefactive demyelination (atypical demyelination presentations). With the aim of better defining the long-term outcomes of this group we have performed a retrospective cohort comparison of atypical demyelination versus ‘typical’ MS presentations. Twenty-seven cases with atypical presentations (both first and subsequent demyelinating events) were identified and compared with typical MS cases. Disease features analysed included relapse rates, disability severity, whole brain and lesion volumes, lesion number and distribution. Atypical cases represented 3.9% of all MS cases. There was considerable overlap in the magnetic resonance imaging (MRI) features of ADEM-like and tumefactive demyelination cases. ADEM-like cases tended to be younger but not significantly so. Atypical cases showed a trend towards higher peak expanded disability severity score (EDSS) score at the time of their atypical presentation. Motor, cranial nerve, cerebellar, cerebral and multifocal presentations were all more common in atypical cases, and less likely to present with optic neuritis. Cerebrospinal fluid (CSF) white cell counts were higher in atypical cases (p = 0.002). One atypical case was associated with peripheral blood myelin oligodendrocyte glycoprotein (MOG) antibodies, but subsequent clinical and radiological course was in keeping with MS. There was no difference in long-term clinical outcomes including annualised relapse rates (ARR), brain volume, lesion numbers or lesion distributions. Atypical demyelination cases were more likely to receive high potency disease modifying therapy early in the course of their illness. Despite the severity of initial illness, our cohort analysis suggests that atypical demyelination presentations do not confer a higher risk of long-term adverse outcomes.

Solitary Tumefactive Demyelinating Lesions in Children: Clinical and Magnetic Resonance Imaging Features, Pathologic Characteristics, and Outcomes