A rare case of superior sagittal sinus thrombosis resulting in the death of a 16-year-old with factor V Leiden, prothrombin G20210A mutation, and oral contraceptive use

Abstract

Cerebral vein thrombosis (CVT) is a potentially fatal neurovascular disease that most commonly affects young women of child-bearing age. The risk of CVT has been reported to be increased by combined oral contraceptive (COC) use. Inherited thrombophilic conditions including factor V Leiden (FVL) and prothrombin G20210A mutation also increase the risk of CVT. Several studies have shown that a combination of risk factors including COC use plus an inherited thrombophilic disorder increases the risk of CVT in a multiplicative fashion. World Health Organization guidelines advise against the use of COC in women with hereditary thrombophilic defects due to the unacceptably elevated risk of thrombotic events. We report the case of a 16-year-old female with a six-week history of COC use who experienced 48 h of vomiting and ataxia and was found in cardiac arrest. Following cardiopulmonary resuscitation and hospitalization, brain imaging identified subarachnoid and intracranial hemorrhage. After a neurologic examination confirmed brain death, the patient expired. Genetic testing detected heterozygous mutations for both FVL and prothrombin G20210A. A brain only autopsy identified superior sagittal sinus thrombosis, subarachnoid hemorrhage, and foci of ischemic necrosis of the cerebral cortex. This case highlights the increased risk of CVT in patients with hereditary thrombophilia and oral contraceptive use. It is vital for physicians to identify risk factors for venous thrombosis and/or CVT prior to administration of COC.

Keywords

• Cerebral veins
• Contraceptives
• Oral/adverse effects
• Factor V
• Prothrombin