Case Report

An Unusual Cause of Cerebral Venous Sinus Thrombosis: Prothrombin G20210A Gene Mutation

Authors: Mateo Porres-Aguilar, MD, Jaime H. Square, MD, Raul Storey, MD, Simon Rodriguez-Dunn, MD, Mohamed S. Mohamed-Aly, MD

Abstract

Cerebral venous sinus thrombosis represents less than 1% of all strokes, being an uncommon entity with a wide spectrum of clinical scenarios. We present a 45-year-old Hispanic female with a history of long-term oral contraceptive use who was diagnosed with cerebral venous sinus thrombosis due to a heterozygous carrier mutation in the prothrombin G20210A gene. The patient was successfully managed with intravenous heparin with favorable clinical results without adverse effects. The prevalence of inherited primary thrombophilia increases with additional risk factors such as the use of oral contraceptives that can trigger or prothrombotic events in any vascular bed. An increased prevalence in the prothrombin G20210 gene mutation has been demonstrated in the Mexican-Mestizo population. Controversy exists regarding therapy of cerebral venous sinus thrombosis; according to experts, heparin remains the cornerstone of therapy with acceptable outcomes. More clinical trials are required to evaluate long-term outcomes in this subgroup of patients.


Key points


* Cerebral venous sinus thrombosis (CVST) represents less than 1% of all strokes.


* This uncommon entity can present with a wide spectrum of clinical manifestations that can mimic any intracranial process.


* Prevalence studies indicate that the most common cause of inherited thrombophilia in Mexican-Mestizo population causing CVST represents the prothrombin G20210A gene mutation.


* Intravenous heparin represents the cornerstone of therapy.

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