Moyamoya Disease in a Six Month Caucasian Female

Moore, Faith D; Rizk, Tamer

doi:10.7759/cureus.11983

Cited by 1 publication

(3 citation statements)

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“…However, de novo RNF213 gene mutations located in the E3 ligase have recently been reported in several severe infant onset MA cases. [27][28][29]106 Liver, kidney and skin clinical manifestations are often associated with cerebrovascular manifestations in those infants leading to diagnosis delay and unneeded investigations.…”

Section: Expert Consensus Statementmentioning

confidence: 99%

“…We had also no evidence to support the clinical utility of performing the genetic screening of p.R.4810K include' variant of RNF213 gene' (PICO3), despite the fact that it could be useful to look for other variants in the RNF213 gene in children with a very early onset and severe disease. [27][28][29]112 Since it has been observed that MMA stenoocclusive lesions progress over the years conditioning ischaemic and haemorrhagic clinical events and that unilateral MMA may evolve to bilateral conditions, the MWG agreed in suggesting the neuroimaging assessment of disease progression (MRI, MRA, cerebral perfusion imaging and DSA), based on the potential need for a therapeutic decision (PICO9). However, also in this case most of the papers reviewed were not comparative studies (i.e.…”

Section: Expert Consensus Statementmentioning

confidence: 99%

“…[19][20][21] Particularly, a variant of the RNF213 gene, p.R4810K with a strong founder effect was found in East-Asians with MMA but not in Western patients whereas the role of other RNF213 gene variants 20,22 has apparently less association with the disease. [23][24][25][26][27][28][29][30] The diagnosis of MMA is confirmed according to established angiographic diagnostic criteria, 31,32 requiring the presence of a bilateral stenosis or occlusion at the terminal portion of the ICAs and/or at the proximal portion of the anterior and/or the middle cerebral arteries and the development of a network of fragile collateral vessels in the vicinity of the occlusive or stenotic lesions. 31,32 In a variable proportion of MMA patients, posterior circulation (mainly posterior cerebral artery-PCA) may be involved.…”

Section: Introductionmentioning

confidence: 99%

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European Stroke Organisation (ESO) Guidelines on Moyamoya angiopathy Endorsed by Vascular European Reference Network (VASCERN)

Bersano

Khan²,

Gimeno

et al. 2023

European Stroke Journal

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The European Stroke Organisation (ESO) guidelines on Moyamoya Angiopathy (MMA), developed according to ESO standard operating procedure and Grading of Recommendations, Assessment, Development and Evaluation (GRADE) methodology, were compiled to assist clinicians in managing patients with MMA in their decision making. A working group involving neurologists, neurosurgeons, a geneticist and methodologists identified nine relevant clinical questions, performed systematic literature reviews and, whenever possible, meta-analyses. Quality assessment of the available evidence was made with specific recommendations. In the absence of sufficient evidence to provide recommendations, Expert Consensus Statements were formulated. Based on low quality evidence from one RCT, we recommend direct bypass surgery in adult patients with haemorrhagic presentation. For ischaemic adult patients and children, we suggest revascularization surgery using direct or combined technique rather than indirect, in the presence of haemodynamic impairment and with an interval of 6–12 weeks between the last cerebrovascular event and surgery. In the absence of robust trial, an Expert Consensus was reached recommending long-term antiplatelet therapy in non-haemorrhagic MMA, as it may reduce risk of embolic stroke. We also agreed on the utility of performing pre- and post- operative haemodynamic and posterior cerebral artery assessment. There were insufficient data to recommend systematic variant screening of RNF213 p.R4810K. Additionally, we suggest that long-term MMA neuroimaging follow up may guide therapeutic decision making by assessing the disease progression. We believe that this guideline, which is the first comprehensive European guideline on MMA management using GRADE methods will assist clinicians to choose the most effective management strategy for MMA.

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Section: Expert Consensus Statementmentioning

confidence: 99%