A unique case of Lemierre's Syndrome and cerebral vein thrombosis in a carrier of prothrombin gene G20210A mutation

Abstract

Introduction: We describe here a case of a woman admitted to our Internal Medicine Unit for multifocal pneumonia. During the stay, she presented a few neurological symptoms: headache, nausea, emesis, photophobia, and gait disturbance. Methodology: Chest computed tomography (CT) detected multiple areas interpreted as septic emboli. Moreover, a left internal jugular thrombosis (LIJT) was incidentally reported. A CT-angiography showed the LIJT extension to cerebral sinuses. Ear, nose, and throat consultation revealed a left medium otitis. Anticoagulation with Fondaparinux was associated to antibiotic therapy with improvement in neurological symptoms that totally remitted over the next 2 weeks. Results: These findings confirmed the diagnosis of a Lemierre's Syndrome with thrombosis extension to cerebral sinuses. The genetic thrombophilic panel showed a heterozygosis for prothrombin gene G20210A mutation and the patient was discharged with Rivaroxaban for home continuation of anticoagulant therapy for at least 6 months. Conclusion: The prevalence of inherited thrombophilias in Lemierre's Syndrome is unknown and to our knowledge, this article is the first to identify a prothrombin gene G20210A mutation in a patient with Lemierre's Syndrome with thrombosis extension into the cerebral venous system. Exploring patients with Lemierre's Syndrome for underlying thrombophilia could clarify whether this promotes retrograde jugular vein thrombosis extension.