Sturge-Weber syndrome associated with arteriovenous malformation in a patient presenting with progressive brain edema and cyst formation

Nishino, Kazuhiko; Ito, Yoshitaka; Sorimachi, Takatoshi; Shimbo, Junsuke; Fujii, Yukihiko

doi:10.3171/2010.1.peds09140

Cited by 12 publications

(4 citation statements)

References 18 publications

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“…Sturge-Weber syndrome is a rare neurovascular disorder associated with seizures, capillary malformation, cognitive impairments, and stroke-like episodes (SLE), arising from a somatic activating mutation in GNAQ [ 22 ] (Table 2 ). Brain arteriovenous malformations can be found in patients with Sturge-Weber syndrome [ 24 ]. We did not find any patients with GNAQ mutations in our database.…”

Section: Resultsmentioning

confidence: 99%

Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation

et al. 2022

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Background Brain arteriovenous malformations (BAVMs) are abnormal vessels that are apt to rupture, causing life-threatening intracranial hemorrhage (ICH). The estimated prevalence of BAVMs is 0.05% among otherwise healthy individuals. In this study, we aim to investigate the mutational spectrum of syndromic genes in sporadic BAVM. Methods We recruited a cohort of 150 patients with BAVM and performed whole-exome sequencing on their peripheral blood DNA. To explore the mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation, we selected six genes according to the Online Mendelian Inheritance in Man (OMIM) and literature. All variants in the six candidate genes were extracted and underwent filtering for qualifying variants. Results There are a total of four patients with rare variants in hereditary hemorrhagic telangiectasia-related genes. In addition, we identified two patients have the variant of RASA1 gene in our database, which are also rare mutations that are absent from population databases. However, we did not find any patients with GNAQ mutations in our database. Conclusions In conclusion, we demonstrated that variants in syndromic vascular malformations play important roles in the etiology of sporadic BAVM.

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Section: Resultsmentioning

confidence: 99%

Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation

et al. 2022

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“…The exact molecular mechanisms underlying bAVMs growth, pathogenesis, and evolution are still debated. Some congenital hereditary diseases were identified as correlated, for example, hereditary hemorrhagic telangiectasia (HHT), Sturge–Weber disease, and Osler–Weber–Rendu syndrome [ 17 , 42 , 43 , 44 , 45 ].…”

Section: Discussionmentioning

confidence: 99%

Brain AVMs-Related microRNAs: Machine Learning Algorithm for Expression Profiles of Target Genes

Lucifero

Luzzi

2022

Brain Sciences

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Introduction: microRNAs (miRNAs) are a class of non-coding RNAs playing a myriad of important roles in regulating gene expression. Of note, recent work demonstrated a critical role of miRNAs in the genesis and progression of brain arteriovenous malformations (bAVMs). Accordingly, here we examine miRNA signatures related to bAVMs and associated gene expression. In so doing we expound on the potential prognostic, diagnostic, and therapeutic significance of miRNAs in the clinical management of bAVMs. Methods: A PRISMA-based literature review was performed using PubMed/Medline database with the following search terms: “brain arteriovenous malformations”, “cerebral arteriovenous malformations”, “microRNA”, and “miRNA”. All preclinical and clinical studies written in English, regardless of date, were selected. For our bioinformatic analyses, miRWalk and miRTarBase machine learning algorithms were employed; the Kyoto Encyclopedia of Genes and Genomes (KEGG) database was quired for associated pathways/functions. Results: four studies were ultimately included in the final analyses. Sequencing data consistently revealed the decreased expression of miR-18a in bAVM-endothelial cells, resulting in increased levels of vascular endodermal growth factor (VEGF), Id-1, matrix metalloproteinase, and growth signals. Our analyses also suggest that the downregulation of miR-137 and miR-195* within vascular smooth muscle cells (VSMCs) may foster the activation of inflammation, aberrant angiogenesis, and phenotypic switching. In the peripheral blood, the overexpression of miR-7-5p, miR-629-5p, miR-199a-5p, miR-200b-3p, and let-7b-5p may contribute to endothelial proliferation and nidus development. The machine learning algorithms employed confirmed associations between miRNA-related target networks, vascular rearrangement, and bAVM progression. Conclusion: miRNAs expression appears to be critical in managing bAVMs’ post-transcriptional signals. Targets of microRNAs regulate canonical vascular proliferation and reshaping. Although additional scientific evidence is needed, the identification of bAVM miRNA signatures may facilitate the development of novel prognostic/diagnostic tools and molecular therapies for bAVMs.

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“…16 Given that several pathologic processes in the formation and potential coexistence of intracranial aneurysms and cerebral arteriovenous malformations (AVM) overlap with MA and MMS-such as vascular stenosis, media thinning, internal elastic lamina damage, angiogenesis, aberrant microvascular hemodynamics, and vascular remodeling-signaling pathways and inflammatory and/or genetic biomarkers may also overlap. 40,60,72,105,161,167,168…”

Section: Dorschel and Wanebomentioning

confidence: 99%

Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases

Dorschel

Wanebo

2021

TACG

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This literature review describes the pathophysiological mechanisms of the current classes of proteins, cells, genes, and signaling pathways relevant to moyamoya angiopathy (MA), along with future research directions and implementation of current knowledge in clinical practice. Objective: This article is intended for physicians diagnosing, treating, and researching MA. Methods and Results: References were identified using a PubMed/Medline systematic computerized search of the medical literature from January 1, 1957, through August 4, 2020, conducted by the authors, using the key words and various combinations of the key words "moyamoya disease," "moyamoya syndrome," "biomarker," "proteome," "genetics," "stroke," "angiogenesis," "cerebral arteriopathy," "pathophysiology," and "etiology." Relevant articles and supplemental basic science articles published in English were included. Intimal hyperplasia, medial thinning, irregular elastic lamina, and creation of moyamoya vessels are the end pathologies of many distinct molecular and genetic processes. Currently, 8 primary classes of proteins are implicated in the pathophysiology of MA: gene-mutation products, enzymes, growth factors, transcription factors, adhesion molecules, inflammatory/ coagulation peptides, immune-related factors, and novel biomarker candidate proteins. We anticipate that this article will need to be updated in 5 years. Conclusion:It is increasingly apparent that MA encompasses a variety of distinct pathophysiologic conditions. Continued research into biomarkers, genetics, and signaling pathways associated with MA will improve and refine our understanding of moyamoya's complex pathophysiology. Future efforts will benefit from multicenter studies, familybased analyses, comparative trials, and close collaboration between the clinical setting and laboratory research.

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Sturge-Weber syndrome associated with arteriovenous malformation in a patient presenting with progressive brain edema and cyst formation

Cited by 12 publications

References 18 publications

Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation

Mutational spectrum of syndromic genes in sporadic brain arteriovenous malformation

Brain AVMs-Related microRNAs: Machine Learning Algorithm for Expression Profiles of Target Genes

Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases

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