Al-Salihi Mohammed Maan, Al-Jebur Maryam Sabah, Mozahem Noor, Nicol Kelly, Elazim Ahmed Abd, Ayyad Ali, Saha Ram
Zeenat Qureshi Stroke Institute, University of Missouri, Columbia, MO, USA.
College of Medicine, University of Baghdad, Baghdad, Iraq.
Acta Neurol Belg. 2025 Aug 11. doi: 10.1007/s13760-025-02872-2.
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.
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.
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.
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.
洛伊斯-迪茨综合征（LDS）是一种罕见的遗传性疾病，其特征是全身血管极度脆弱，伴有复杂的神经血管表现，目前仍未完全了解。本系统评价旨在全面梳理LDS中神经血管并发症的范围，综合现有文献，确定导致疾病严重程度的潜在遗传和表型相关性，并展示我们的病例报告以说明实际临床挑战和管理复杂性。
遵循PRISMA指南，从数据库建立至2025年3月，在PubMed、Scopus、Web of Science和Cochrane图书馆进行了全面的文献检索。使用预先定义的纳入/排除标准对研究进行系统筛选。采用乔安娜·布里格斯研究所批判性评价清单进行质量评估。
最终纳入25项研究，包括13项回顾性队列研究和12项病例报告。该评价显示LDS存在显著的神经血管疾病负担。颅内动脉瘤患病率在19.4%至30%之间，平均大小为3.6毫米。TGFBR1、TGFBR2和SMAD3基因的基因突变与血管并发症密切相关。22.2%的患者记录有动脉夹层，神经血管事件涵盖儿童至成人人群。我们的病例报告展示了该综合征复杂的多系统表现，表现为双侧伴有出血成分的栓塞性梗死。
本系统评价全面描述了LDS中的神经血管并发症情况，强调了进行专门的、基于基因的风险分层和纵向监测的迫切需求。研究结果强调了基因突变与血管病理生理学之间的复杂关系，突出了潜在的分子干预策略。
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