Papadopoulos Eleni, Abrimian Anna, Zarzour Hekmat, Hagerman Randi J, Schmidt Richard F
Rowan-Virtua School of Osteopathic Medicine, Stratford, New Jersey.
Department of Neurological Surgery, Thomas Jefferson University, Philadelphia, Pennsylvania.
J Neurosurg Case Lessons. 2025 Mar 10;9(10). doi: 10.3171/CASE24889.
Fragile X syndrome (FXS) is a genetic disorder that typically presents with neurodevelopmental abnormalities. Patients with FXS can present with signs and symptoms of connective tissue disorder (CTD) and occasionally with vascular disease. However, cerebrovascular disease is not well documented in these patients, and it is unknown whether there is a direct link between abnormal levels of fragile X protein (FMRP) and its mRNA.
Here, the authors present a rare case of an adult male with full mutation FXS of a high-functioning phenotype who presented with syncope, and on further evaluation, a fusiform dissecting aneurysm of the distal middle cerebral artery was identified. The patient was treated for the aneurysm and recovered successfully.
Previous clinical evidence suggests that there might be an association between FMRP and increased mRNA levels on CTD and vascular pathologies in patients with FXS. This leads the authors to believe that their patient's previous FXS diagnosis might have played a role in the spontaneous aneurysm and presents a novel area of inquiry in the clinical and pathological manifestations of this disease. Therefore, screening for underlying FXS genetic abnormalities in patients with CNS aneurysms and screening for aneurysms in those with these mutations might need to be considered. https://thejns.org/doi/10.3171/CASE24889.
脆性X综合征（FXS）是一种遗传性疾病，通常表现为神经发育异常。FXS患者可能出现结缔组织疾病（CTD）的体征和症状，偶尔也会出现血管疾病。然而，这些患者的脑血管疾病记录并不完善，脆性X蛋白（FMRP）及其mRNA水平异常之间是否存在直接联系尚不清楚。
在此，作者报告了一例罕见病例，一名具有高功能表型的成年男性，其FXS为完全突变型，出现晕厥，进一步评估发现大脑中动脉远端梭形夹层动脉瘤。该患者接受了动脉瘤治疗并成功康复。
先前的临床证据表明，FXS患者的FMRP与CTD和血管病变中mRNA水平升高之间可能存在关联。这使作者认为，他们的患者先前的FXS诊断可能在自发性动脉瘤中起了作用，并为该疾病的临床和病理表现提出了一个新的研究领域。因此，可能需要考虑对患有中枢神经系统动脉瘤的患者进行潜在FXS基因异常筛查，以及对携带这些突变的患者进行动脉瘤筛查。https://thejns.org/doi/10.3171/CASE24889。
