Paroxysmal nocturnal hemoglobinuria with sagittal vein thrombosis as the initial presentation

Abstract

Introduction: Paroxysmal nocturnal hemoglobinuria is a rare disease that presents with a variety of symptoms including hematuria, thrombosis, and other non-specific symptoms. Venous thrombosis is not uncommon in paroxysmal nocturnal hemoglobinuria (PNH). However, a thromboembolic event as the presenting symptom of PNH is rare and can be life-threatening, when affects the sagittal veins in the brain. Case Report: A 28-year-old female presented to the facility with left-sided hemiparesis. Initial workup revealed a right-sided subacute hemorrhagic infarct of the parietal lobe, and magnetic resonance imaging (MRI) venography demonstrated extensive venous thrombosis involving the sagittal, straight, and transverse sinuses, with secondary edema in the involved hemisphere. Thrombotic events may affect up to 50% of PNH patients and account for at least one-third of mortality in PNH. Although disease presentation in PNH is variable, cerebral venous sinus thrombosis as the first thrombotic event in disease presentation along with the absence of hematuria makes this case unique. High suspicion of thrombosis and a differential diagnosis of PNH should be considered in young patients presenting with these symptoms, even in the absence of hematuria. Ravulizumab has significantly reduced thrombotic events, and these therapies should be immediately commenced upon high suspicion of thrombosis. Allogeneic hematopoietic stem cell transplantation offers the only curative approach for PNH to date. Conclusion: Paroxysmal nocturnal hemoglobinuria is a very rare and life-threatening disease. Hematuria is not always present in this disease. Complement inhibitor therapy should be started immediately upon confirmation of the diagnosis to decrease future thrombotic events. Paroxysmal nocturnal hemoglobinuria patients may need allogeneic hematopoietic stem cell transplantation, which is the only curative approach available today.