(829) Antiphospholipid Syndrome and G20210A Mutation Causing Cerebral Venous Sinus Thrombosis in Teenager

Introduction: Cerebral venous sinus thrombosis (CVST) is a rare but potentially fatal cerebrovascular accident in pediatrics. Risk factors include severe dehydration, trauma, or malignancy. Rarely, an infection leading to a rheumatic condition or coagulopathy can trigger thrombosis.

Description: A previously healthy 11-year-old male with obesity presented to the local emergency department with altered mental status. He had a one-week history of productive cough and fever and was prescribed antibiotics for presumed bacterial pneumonia. His symptoms worsened leading to headaches, nausea, and vomiting. He was brought to the emergency department and intubated immediately for airway protection.

Initial CT scans indicated CVST and he was transferred to a pediatric intensive care unit. Further imaging confirmed extensive left-sided CVST in the deep cerebral veins, extending into the straight sinus, left transverse/sigmoid sinus, and left internal jugular vein. An MRI performed showed vasogenic edema, petechial microhemorrhages, and a 6 mm midline shift. He received hypertonic saline boluses and an emergent external ventricular drain was placed. Systemic heparin infusion was started for anticoagulation. He was continued on mechanical ventilation with strict ICP monitoring.

A hypercoagulability investigation revealed the presence of anticardiolipin IgM, anti-β-2 glycoprotein, Factor II G20210A heterozygosity, and mycoplasma IgG/IgM suggesting infection-driven CVST from antiphospholipid syndrome and prothrombin mutation. He was started on IVIG and a five-day course of high-dose methylprednisolone. He was extubated on ICU Day 14 and has been gradually regaining motor function on the right side. He was transitioned to enoxaparin and oral prednisone and started on hydroxychloroquine.

Discussion: CVST is a recognized cause of pediatric stroke with high morbidity and mortality. Our case is a rare presentation of CVST secondary to mycoplasma-driven antiphospholipid syndrome and co-existing G20210A mutation in a pediatric patient. He will likely require long-term immunosuppression and anticoagulation.