Vertebral artery dissection associated with familial Mediterranean fever and Behçet's disease

Ishikawa, Hidehiro; Shindo, Akihiro; Yuichiro,; Sakano, Shoko; Asahi, Momoyo; Matsuura, Keita; Kishida, Dai; Umino, Maki; Maeda, Masayuki; Tomimoto, Hidekazu

doi:10.1002/acn3.773

Cited by 10 publications

(14 citation statements)

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“…There are multiple case reports in which MEFV mutations were found in BD patients [ 8 , 12 ]. An association between MEFV and neuro-BD was also reported [ 43 ].…”

Section: Other Genesmentioning

confidence: 91%

Primary Immunodeficiency Disease Mimicking Pediatric Bechet’s Disease

Shiraki

Kadowaki

et al. 2021

Children

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Behcet’s disease (BD) is a chronic inflammatory disease with multisystemic involvement. Its etiology is considered to involve complex environmental and genetic factors. Several susceptibility genes for BD, such as human leukocyte antigen (HLA)-A26, IL23R-IL12RB2, IL10 and ERAP1, in addition to the well-studied HLA-B51, were mainly identified by genome-wide association studies. A heterozygous mutation in TNFAIP3, which leads to A20 haploinsufficiency, was found to cause an early-onset autoinflammatory disease resembling BD in 2016. Several monogenic diseases associated with primary immunodeficiency disease and trisomy 8 have recently been reported to display BD-like phenotypes. Among the genes causing these diseases, TNFAIP3, NEMO, RELA, NFKB1 and TNFRSF1A are involved in the NF-κB (nuclear factor κ light-chain enhancer of activated B cells) signaling pathway, indicating that this pathway plays an important role in the pathogenesis of BD. Because appropriate treatment may vary depending on the disease, analyzing the genetic background of patients with such diseases is expected to help elucidate the etiology of pediatric BD and assist with its treatment. Here, we summarize recently emerging knowledge about genetic predisposition to BD.

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“…There are multiple case reports in which MEFV mutations were found in BD patients [ 8 , 12 ]. An association between MEFV and neuro-BD was also reported [ 43 ].…”

Section: Other Genesmentioning

confidence: 91%

Primary Immunodeficiency Disease Mimicking Pediatric Bechet’s Disease

Shiraki

Kadowaki

et al. 2021

Children

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“…Literature systematic review documented a total of 6 cases of FMF and stroke, 2 of which were women, and aged between 17 and 52 years. [8][9][10][11][12][13] While 1 of the stroke cases had conus medullaris infarction 13 and another a large right middle cerebral artery infarction, 9 the remaining 4 had small-sized infarct(s). In this last group, acute infarct localization involved central plus lateral mesencephalon, 11 posterior striate, 8 lateral medulla 10 and superior cerebellar 12 regions.…”

Section: Literature Systematic Reviewmentioning

confidence: 99%

“…[8][9][10][11][12][13] While 1 of the stroke cases had conus medullaris infarction 13 and another a large right middle cerebral artery infarction, 9 the remaining 4 had small-sized infarct(s). In this last group, acute infarct localization involved central plus lateral mesencephalon, 11 posterior striate, 8 lateral medulla 10 and superior cerebellar 12 regions. The etiology was classified as cryptogenic in 3 patients, 8,9,11 1 case was due to possible vasculitis 10 and the other had dissection.…”

Section: Literature Systematic Reviewmentioning

confidence: 99%

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Acute stroke in familial Mediterranean fever: An analysis of 23 new cases and systematic review of the literature

et al. 2023

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Objective: The nature of neurovascular involvement in cases of familial Mediterranean fever (FMF) has not been adequately clarified.Methods and Patients: Clinical features, infarct topography, vascular status, and stroke etiology were prospectively determined in 35 acute neurovascular events that occurred in 23 FMF patients. Clinicoradiological features were compared with an ageand gender-matched control group of 115 acute stroke patients. Characteristics of additional FMF and acute stroke cases (6 episodes in 6 patients) identified from a systematic literature review (PROSPERO registration no: CRD420212264820) were also analyzed.Results: There were 27 acute ischemic stroke episodes in 19 patients, 7 transient ischemic attack episodes in 3 patients, and 1 patient with a single episode of parietal hematoma in our cohort. Twenty (74%) ischemic stroke episodes in 12 patients were cryptogenic. Ten of these 12 cases had a previous FMF diagnosis and were taking colchicine. There was no significant difference in the FMF group in terms of the presence of vascular risk factors and angiography-documented disease in comparison to controls. Cerebral distal artery involvement was significantly prevalent in FMF (78% vs 45%, P = .002). Especially, midbrain central deep perforating territory involvement was higher (30% vs 1%, P < .001). The long-term prognosis (median 8.5 years) under antiplatelet agents and colchicine is favorable. Discussion:The acute stroke phenotype in FMF cases is herein described for the first time. Several clinicoradiological features such as thrombotic lacunar infarcts located in the central mesencephalon seem so typical that we recommend searching for FMF mutations in geographic regions where FMF is common.

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“…A minor direct or indirect trauma is mainly related to coughing, sneezing, sexual intercourse, and defecation [45,57,82]. Local and general infections, as well as other types of inflammation, including various types of arteritis, can also result in arterial dissections [48,51,58,83]. Iatrogenic injuries of the cervical and intracranial arteries are possible as well, including local anesthetic injection, and neck, oral, transnasal and skull base surgery [49,55,84].…”

Section: Predisposing Factors and Causesmentioning

confidence: 99%