scholarly journals AB1040 COEXISTENCE OF DEMYELINATION DISEASE AND FAMILIAL MEDITERRANEAN FEVER

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1811.3-1812
Author(s):  
C. Korkmaz ◽  
D. Üsküdar Cansu ◽  
S. Canbaz Kabay
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
General Population ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
Central Nervous System Involvement ◽  
Demyelinating Diseases ◽  
Clinical Criteria ◽  
Mediterranean Fever

Background:In the course of familial Mediterranean fever (FMF), the frequency of other inflammatory diseases increases compared to the general population. Multiple sclerosis (MS) or demyelinating diseases (DD) of central nervous system (CNS) are also more common in FMF patients than in the general population.Objectives:In this study, we would like to report 5 cases with MS/DD accompanied by FMF or MEFV mutations in two families.Methods:4 patients with FMF and 1 patient with MEFV mutation were included in this study. The patients with FMF were diagnosed according to Tell-Hashomer clinical criteria for FMF. The diagnosis of MS was made according to McDonald criteria.Results:The clinical features of the patients were shown in Table 1.Conclusion:FMF and MS/DD are characterized by repetitive attacks. Familial association can be seen in 12% of patients with MS (1). This is related to both HLA and non-HLA-related genetic tendency. The probability of developing MS increased 4 times in FMF patients (2). This seems to be related to the presence of MEFV gene creating a pro-inflammatory background. In such family samples, combining HLA and non-HLA gene related studies with MEFV gene analysis will be useful in common genetic factors investigation.References:[1]Harirchian MH, Fatehi F, Sarraf P, Honarvar NM, Bitarafan S. Worldwide prevalence of familial multiple sclerosis: A systematic review and meta-analysis. Mult Scler Relat Disord. 2018;20:43-47.[2]Akman-Demir G, Gül A, Gürol E, Özdoğan H, Bahar S, et al. Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association? J Neurol 2006;253:928-934.Acknowledgments:NoneDisclosure of Interests:None declared

Familial Mediterranean Fever and Central Nervous System Involvement

Medicine ◽  
2010 ◽  
Vol 89 (2) ◽  
pp. 75-84 ◽  
Author(s):  
Umut Kalyoncu ◽  
Amber Eker ◽  
Kader K. Oguz ◽  
Asli Kurne ◽  
Isilay Kalan ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Familial Mediterranean Fever ◽  
Central Nervous System Involvement ◽  
System Involvement ◽  
Mediterranean Fever

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

2012 ◽  
Vol 18 (9) ◽  
pp. 1229-1238 ◽  
Author(s):  
T Kümpfel ◽  
L-A Gerdes ◽  
T Wacker ◽  
A Blaschek ◽  
J Havla ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
German Population ◽  
Gene Group ◽  
Mefv Mutations ◽  
Mediterranean Fever ◽  
Group 2 ◽  
Group 1

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent febrile polyserositis. A possible association of FMF and multiple sclerosis (MS) has been suggested in cohorts from Turkey and Israel. Objective: The objective of this study was to investigate the prevalence of MEFV mutations in subjects with MS and in controls in Germany. Methods: One-hundred and fifty seven MS patients with at least one symptom or without symptoms suggestive of FMF from our outpatient clinic were investigated for mutations in exons 2, 3, and 10 of the MEFV gene (group 1). 260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) were screened selectively for the low-penetrance pyrin mutations E148Q and K695R Results: In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q ( n=7) substitution. Fifteen of the 19 mutation-positive individuals reported at least one symptom suggestive of FMF. In three cases, we could identify additional family members with MS. In these pedigrees, the E148Q exchange co-segregated with MS ( p=0.026). Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. Conclusion: The MEFV gene appears to be another immunologically relevant gene locus which contributes to MS susceptibility. In particular, the pyrin E148Q mutation, which co-segregated with disease in three MS families, is a promising candidate risk factor for MS that should be further explored in larger studies.

Demyelinating disorders of the central nervous system

2010 ◽  
pp. 4948-4963
Author(s):  
Siddharthan Chandran ◽  
Alastair Compston
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Acute Disseminated Encephalomyelitis ◽  
Demyelinating Diseases ◽  
Demyelinating Disorder ◽  
System P ◽  
The Central Nervous System ◽  
Demyelinating Disorders ◽  
Brain And Spinal Cord

Clinicians suspect demyelination when episodes reflecting damage to white matter tracts within the central nervous system occur in young adults. The paucity of specific biological markers of discrete demyelinating syndromes places an emphasis on clinical phenotype—temporal and spatial patterns—when classifying demyelinating disorders. The diagnosis of multiple sclerosis, the most common demyelinating disorder, becomes probable when these symptoms and signs recur, involving different parts of the brain and spinal cord. Other important demyelinating diseases include post-infectious neurological disorders (acute disseminated encephalomyelitis), demyelination resulting from metabolic derangements (central pontine myelinosis), and inherited leucodystrophies that may present in children or in adults. Accepting differences in mechanism, presentation, and treatment, two observations can usefully be made when classifying demyelinating disorders. These are the presence or absence of inflammation, and the extent of focal vs. diffuse demyelination. Multiple sclerosis is prototypic for the former, whereas dysmyelinating disorders, such as leucodystrophies are representative of the latter....

scholarly journals Balò’s concentric sclerosis in a case of cocaine-levamisole abuse

2020 ◽  
Vol 8 ◽  
pp. 2050313X2094053 ◽  
Author(s):  
Daniela Grasso ◽  
Carmela Borreggine ◽  
Giulia Castorani ◽  
Doriana Vergara ◽  
Lucia Maria Cecilia Dimitri ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Cocaine Abuse ◽  
Hemorrhagic Stroke ◽  
Demyelinating Diseases ◽  
Resonance Imaging ◽  
Radiological Findings ◽  
Baló’S Concentric Sclerosis

Baló’s concentric sclerosis is a rare variant of multiple sclerosis. It belongs to the group of primary inflammatory central nervous system demyelinating diseases having no clear etiology. Peculiar radiological findings on magnetic resonance imaging are alternating rings of demyelinated and myelinated axons resembling an “onion bulb.” We report on a case of a patient with cocaine abuse who presented with Balò’s-like acute multifocal leukoencephalopathy supported by histological and radiological findings. The abuse of cocaine and its most frequent adulterant, levamisole, may induce ischemic or hemorrhagic stroke and metabolic or multifocal inflammatory leukoencephalopathy. Only a few studies described levamisole-induced leukoencephalopathy mimicking Balò round lesions. Nevertheless, it has not yet been established the correlation between them; it might also be possible that the cocaine/levamisole addiction represents just a coincidence in some of those patients affected by Balò sclerosis disease.

scholarly journals Case Report: Efficacy of Rituximab in a Patient With Familial Mediterranean Fever and Multiple Sclerosis

2021 ◽  
Vol 11 ◽  
Author(s):  
Mattia Pozzato ◽  
Emanuele Micaglio ◽  
Chiara Starvaggi Cucuzza ◽  
Alessandro Cagol ◽  
Daniela Galimberti ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Spinal Cord ◽  
Familial Mediterranean Fever ◽  
Demyelinating Disease ◽  
Cervical Spinal Cord ◽  
Mefv Gene ◽  
The Body ◽  
Drug Choice ◽  
Mediterranean Fever ◽  
The Right

Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease characterized by recurrent episodes of fever and serositis caused by mutations in the MEFV gene, while Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the CNS with genetic and environmental etiology. The two diseases rarely occur in association with relevant implications for clinical management and drug choice. In this paper, we present the case of a 53-year-old male with an autosomal dominant FMF since childhood who presented acute paresthesia at the right part of the body. He performed a brain and spinal cord MRI, which showed multiple brain lesions and a gd-enhancing lesion in the cervical spinal cord, and then received a diagnosis of MS. He then started Interferonβ-1a which was effective but not tolerated and caused hepatotoxicity, and then shifted to Rituximab with 3-month clinical and neuroradiological efficacy.

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