Concurrent Cerebellar and Spinal Infarction in Congenital Hypofibrinogenemia: A Report of a Rare Case

先天性低纤维蛋白原血症并发小脑和脊髓梗死:一例罕见病例报告

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Abstract

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.

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