Al Hassani Mustafa, Al Hassani Zaid, ElKhalifa Walaaeldin, Abbasi Hina, Elbery Adel
Internal Medicine, Tawam Hospital, Al Ain, ARE.
College of Medicine, University of Sharjah, Sharjah, ARE.
Cureus. 2025 Aug 24;17(8):e90881. doi: 10.7759/cureus.90881. eCollection 2025 Aug.
Congenital hypofibrinogenemia is a rare autosomal recessive disorder characterized by significantly reduced plasma fibrinogen levels and a predisposition to bleeding. Paradoxically, affected individuals also face an increased risk of thrombotic events. However, simultaneous involvement of both the cerebellum and spinal cord due to ischemic strokes is exceedingly rare. We report the case of a 41-year-old woman with a known history of congenital hypofibrinogenemia and prior cerebral hemorrhage, who presented with sudden-onset numbness in all four limbs, rapidly progressing to tetraplegia and sensory loss at the C4 level. Episodes of vertigo and chronic cervical pain preceded these symptoms. Coagulation studies revealed a critically low fibrinogen level (<0.30 g/L), markedly elevated international normalized ratio (INR >10.00), and prolonged activated partial thromboplastin time (APTT >180 seconds). Neuroimaging confirmed a subacute infarction in the right cerebellar hemisphere and ischemic changes in the cervical spinal cord from C2 to C5. Management included fibrinogen replacement therapy, high-dose corticosteroids, and non-invasive ventilatory support; anticoagulation was withheld due to the substantial hemorrhagic risk. This case exemplifies the clinical complexity of managing patients with hypofibrinogenemia, where severe coagulation deficits may paradoxically lead to ischemic events. To our knowledge, this is the first reported case of concurrent cerebellar and spinal cord infarctions in a patient with congenital hypofibrinogenemia, underscoring the need for heightened clinical vigilance and the development of evidence-based treatment protocols.
先天性低纤维蛋白原血症是一种罕见的常染色体隐性疾病,其特征是血浆纤维蛋白原水平显著降低且易出血。矛盾的是,受影响的个体发生血栓事件的风险也会增加。然而,由于缺血性中风同时累及小脑和脊髓的情况极为罕见。我们报告了一例41岁女性病例,该患者有先天性低纤维蛋白原血症病史且曾有脑出血,此次出现四肢突发麻木,迅速发展为四肢瘫痪及C4水平感觉丧失。在这些症状出现之前有眩晕发作和慢性颈痛。凝血研究显示纤维蛋白原水平极低(<0.30 g/L),国际标准化比值显著升高(INR>10.00),活化部分凝血活酶时间延长(APTT>180秒)。神经影像学检查证实右侧小脑半球亚急性梗死以及C2至C5颈段脊髓缺血性改变。治疗包括纤维蛋白原替代疗法、大剂量皮质类固醇和无创通气支持;由于出血风险极大,未进行抗凝治疗。该病例体现了管理低纤维蛋白原血症患者的临床复杂性,即严重的凝血缺陷可能反常地导致缺血性事件。据我们所知,这是首例报道的先天性低纤维蛋白原血症患者并发小脑和脊髓梗死的病例,强调了提高临床警惕性以及制定循证治疗方案的必要性。