Mohammed Maan Al-Salihi, Maryam Sabah Al-Jebur, Noor Mozahem, Kelly Nicol, Ahmed Abd Elazim, Ali Ayyad, Ram Saha
{"title":"Neurovascular complications in Loeys-Dietz syndrome: a comprehensive systematic review and case report.","authors":"Mohammed Maan Al-Salihi, Maryam Sabah Al-Jebur, Noor Mozahem, Kelly Nicol, Ahmed Abd Elazim, Ali Ayyad, Ram Saha","doi":"10.1007/s13760-025-02872-2","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Loeys-Dietz syndrome (LDS) is a rare genetic disorder characterized by profound systemic vascular vulnerability, with complex neurovascular manifestations that remain incompletely understood. This systematic review aimed to comprehensively map the spectrum of neurovascular complications in LDS, synthesize existing literature, identify potential genetic and phenotypic correlations contributing to disease severity, and present our case report to illustrate real-world clinical challenges and management complexities.</p><p><strong>Methods: </strong>Following PRISMA guidelines, a comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Cochrane Library from database inception to March 2025. Studies were systematically screened using predefined inclusion/exclusion criteria. The Joanna Briggs Institute Critical Appraisal Checklists were employed for quality assessment.</p><p><strong>Results: </strong>Twenty-five studies, including 13 retrospective cohort studies and 12 case reports, were ultimately included. The review revealed a significant neurovascular disease burden in LDS. Intracranial aneurysm prevalence ranged from 19.4 to 30%, with an average size of 3.6 mm. Genetic mutations in TGFBR1, TGFBR2, and SMAD3 genes were strongly associated with vascular complications. Arterial dissections were documented in 22.2% of patients, with neurovascular events spanning pediatric to adult populations. Our case report illustrated the syndrome's complex multisystemic manifestations, demonstrating bilateral embolic infarcts with hemorrhagic components.</p><p><strong>Conclusions: </strong>This systematic review provides a comprehensive characterization of neurovascular complications in LDS, emphasizing the critical need for specialized, genetic-specific risk stratification and longitudinal monitoring. The findings underscore the complex relationship between genetic mutations and vascular pathophysiology, highlighting potential molecular intervention strategies.</p>","PeriodicalId":7042,"journal":{"name":"Acta neurologica Belgica","volume":" ","pages":""},"PeriodicalIF":2.1000,"publicationDate":"2025-08-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta neurologica Belgica","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s13760-025-02872-2","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Loeys-Dietz syndrome (LDS) is a rare genetic disorder characterized by profound systemic vascular vulnerability, with complex neurovascular manifestations that remain incompletely understood. This systematic review aimed to comprehensively map the spectrum of neurovascular complications in LDS, synthesize existing literature, identify potential genetic and phenotypic correlations contributing to disease severity, and present our case report to illustrate real-world clinical challenges and management complexities.
Methods: Following PRISMA guidelines, a comprehensive literature search was conducted across PubMed, Scopus, Web of Science, and Cochrane Library from database inception to March 2025. Studies were systematically screened using predefined inclusion/exclusion criteria. The Joanna Briggs Institute Critical Appraisal Checklists were employed for quality assessment.
Results: Twenty-five studies, including 13 retrospective cohort studies and 12 case reports, were ultimately included. The review revealed a significant neurovascular disease burden in LDS. Intracranial aneurysm prevalence ranged from 19.4 to 30%, with an average size of 3.6 mm. Genetic mutations in TGFBR1, TGFBR2, and SMAD3 genes were strongly associated with vascular complications. Arterial dissections were documented in 22.2% of patients, with neurovascular events spanning pediatric to adult populations. Our case report illustrated the syndrome's complex multisystemic manifestations, demonstrating bilateral embolic infarcts with hemorrhagic components.
Conclusions: This systematic review provides a comprehensive characterization of neurovascular complications in LDS, emphasizing the critical need for specialized, genetic-specific risk stratification and longitudinal monitoring. The findings underscore the complex relationship between genetic mutations and vascular pathophysiology, highlighting potential molecular intervention strategies.
期刊介绍：
Peer-reviewed and published quarterly, Acta Neurologica Belgicapresents original articles in the clinical and basic neurosciences, and also reports the proceedings and the abstracts of the scientific meetings of the different partner societies. The contents include commentaries, editorials, review articles, case reports, neuro-images of interest, book reviews and letters to the editor.
Acta Neurologica Belgica is the official journal of the following national societies:
Belgian Neurological Society
Belgian Society for Neuroscience
Belgian Society of Clinical Neurophysiology
Belgian Pediatric Neurology Society
Belgian Study Group of Multiple Sclerosis
Belgian Stroke Council
Belgian Headache Society
Belgian Study Group of Neuropathology
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
