Bernard-Soulier Syndrome

Abstract

Bernard Soulier Syndrome is a rare, inherited disorder of platelet function. It is characterized by mucocutaneous bleeding, thrombocytopenia and giant platelets. We present a case of an 11-year-old girl with recurrent hemetemesis. Peripheral blood film examinations done on various occasions showed low to low normal platelet count, and giant platelets. Platelet aggregation studies were performed, which showed findings consistent with Bernard Soulier syndrome.