Paroxysmal nocturnal haemoglobinuria presenting as cortical cerebral venous thrombosis

Abstract

Abstract Paroxysmal nocturnal haemoglobinuria (PNH) arises as a consequence of mutation of phosphatidylinositol N-acetylglucosaminyltransferase subunit A gene that is required for synthesis of the glycosylphosphatidylinositol proteins to the cell surface of blood cells. Patients with PNH usually present with features of chronic unexplained anaemia, but can also present with bone marrow failure and thrombosis at unusual sites. We present the case of a 27-year-old who presented with complaints of headache and easy fatigability, on evaluation was found to have coombs negative haemolytic anaemia and brain magnetic resonance venogram revealed thrombosis in the left transverse and sigmoid sinuses. On further investigation, found to have PNH clone in both red and white blood cell lineages and diagnosed as PNH. Hence, any patient presenting with chronic non-immune intravascular haemolysis, unexplained anaemia and unusual thrombosis should alert the physician to consider PNH as a differential diagnosis to avoid delay in diagnosis and better management.