Multiple sclerosis with atypical MRI presentation: Results of a nationwide multicenter study in 57 consecutive cases

Codjia, Pekes; Ayrignac, Xavier; Cohen, M.; Charif, Mahmoud; Lippi, Anaïs; Collongues, Nicolas; Corti, Lucas; Sèze, Jérôme De; Lebrun, C.; Vukusic, Sandra; Durand‐Dubief, Françoise; Labauge, Pierre; Sfsep,; Ofsep,

doi:10.1016/j.msard.2018.12.022

Cited by 11 publications

(14 citation statements)

References 42 publications

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“…3,[5][6][7] They emphasize the role of thorough diagnostic testing and accurate differentiation to avoid aggressive diagnostic and therapeutic procedures. 2,5,8,9 Being a young woman in the fourth decade of life, the first patient fulfills the epidemiological criteria of a typical patient with MS. 2,4,7,8 The fact that the patient reported an earlier event with right motor weakness 3 years ago raises the question whether the patient had MS before. Hence, the tumefactive lesion may not have been the initial event.…”

Section: Discussionmentioning

confidence: 99%

“…2,4,7,8 The clinical presentation of patients with tumefactive lesions is atypical in comparison with that of patients with typical MS. 4,7,8,11 Although patients with typical MS initially present with symptoms such as sensory or motor deficits, hemiparesis or optic neuritis, tumefactive forms can lead to headache, cognitive impairment, speech deficits, cerebellar symptoms, and even seizures. [2][3][4][7][8][9]11 The second patient was slightly older than the typical age of patients with MS, but given that the first symptoms were reported 10 years ago, she can also be regarded as a typical patient with MS. However, due to the absence of dissemination in time and space (only one relapse and one MS lesion in the corpus callosum), the question arises whether the diagnosis of MS was correct.…”

Section: Discussionmentioning

confidence: 99%

“…3,[5][6][7] Thorough diagnostic and accurate differentiation is indispensable to avoid aggressive diagnostic and therapeutic procedures. 2,5,8,9 Nevertheless, in particular cases, brain biopsy may be inevitable for precise differential diagnosis. 2,3,5,6,9 MRI is the standard diagnostic instrument for diagnosis of either typical or atypical demyelinating disorders.…”

mentioning

confidence: 99%

“…2,5,8,9 Nevertheless, in particular cases, brain biopsy may be inevitable for precise differential diagnosis. 2,3,5,6,9 MRI is the standard diagnostic instrument for diagnosis of either typical or atypical demyelinating disorders. 7 In tumefactive demyelinating disorders, MRI shows usually singular, infrequently multiple lesions in the white matter, more than 2 cm in size and without involvement of the cortex.…”

mentioning

confidence: 99%

“…7 In tumefactive demyelinating disorders, MRI shows usually singular, infrequently multiple lesions in the white matter, more than 2 cm in size and without involvement of the cortex. 2,3,[5][6][7][8] In contrast to neoplasms, the mass effect of tumefactive demyelinating lesions is less distinct in comparison to their size 2,9 In 77% of the cases, tumefactive lesions stand out with a perilesional edema. 10 Contrast enhancement can be seen in 95%-100% of cases, but it shows various characteristics.…”

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confidence: 99%

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Two patients with cerebral lesions: is it tumor or multiple sclerosis? Illustrative cases

Friedrich¹,

Struffert

Dohmen

et al. 2022

Journal of Neurosurgery: Case Lessons

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BACKGROUND Multiple sclerosis (MS) is a common demyelinating disease of the central nervous system, usually presenting with multiple small white matter lesions. In some rare cases, it can present as a singular tumefactive white matter plaque. OBSERVATIONS The patient in case 1 was a 33-year-old woman presenting with a restriction of fine motor skills. Magnetic resonance imaging showed a singular round lesion in the left frontal lobe with ring enhancement and moderate perilesional edema. Assuming the diagnosis of a neoplasm, total resection was performed. Histological examination showed an early active inflammatory demyelinating process. A final diagnosis of MS was made. The patient in case 2 was a 65-year-old woman who had been diagnosed with MS 10 years earlier and was experiencing moderate left hemiparesis. She was found to have a progressive right thalamic lesion with contrast enhancement, perilesional edema, and space-occupying effect. Stereotactic biopsy of the lesion was performed. Histological examination revealed a glioblastoma multiforme World Health Organization grade IV, and concomitant chemoradiation was recommended. LESSONS On the one hand, tumefactive MS can be a diagnostic challenge because it mimics neoplasms or abscesses. On the other hand, a new lesion in patients with a diagnosis of long-standing demyelinating disease may not necessarily be a new demyelinating lesion and should be closely monitored.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Two patients with cerebral lesions: is it tumor or multiple sclerosis? Illustrative cases

Friedrich¹,

Struffert

Dohmen

et al. 2022

Journal of Neurosurgery: Case Lessons

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A rare case of Balo's disease in a young adult: A clinical presentation and management

Singh,

Almusleh,

Mandru

et al. 2024

Clinical Case Reports

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Key Clinical MessageAccurate diagnosis of rare neurological conditions like Balo's concentric sclerosis (BCS) is challenging but crucial for tailored treatment. Interdisciplinary collaboration and further research are essential to advance our understanding.AbstractThis case report presents a 32‐year‐old female patient with a puzzling neurological condition characterized by feverish feelings, joint pain, unclear speech, and an unsteady gait. Initial management did not lead to improvement, and further examination revealed neurological involvement and joint tenderness without signs of inflammatory arthritis. Laboratory investigations ruled out infectious and autoimmune causes. Magnetic resonance imaging (MRI) showed well‐defined lesions with concentric rings, leading to a diagnosis of Balo' concentric sclerosis. Treatment with intravenous methylprednisolone resulted in limited improvement. This case highlights the importance of thorough evaluation and collaboration in diagnosing rare neurological conditions. Further research is needed to enhance the understanding and treatment of rare neurological disorders.

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Long-term outcomes of ADEM-like and tumefactive presentations of CNS demyelination: a case-comparison analysis

Arnett,

Prain,

Ramanathan

et al. 2024

J Neurol

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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.

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Multiple sclerosis with atypical MRI presentation: Results of a nationwide multicenter study in 57 consecutive cases

Cited by 11 publications

References 42 publications

Two patients with cerebral lesions: is it tumor or multiple sclerosis? Illustrative cases

Two patients with cerebral lesions: is it tumor or multiple sclerosis? Illustrative cases

A rare case of Balo's disease in a young adult: A clinical presentation and management

Long-term outcomes of ADEM-like and tumefactive presentations of CNS demyelination: a case-comparison analysis

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