Bernard Soulier Syndrome is a genetically inherited platelet disorder that commonly presents with symptoms of impaired blood coagulation, such as epistaxis, menorrhagia, and petechiae formation. Here we present a case of Bernard Soulier Syndrome in which the individual has presented with melena, which is the appearance of black tarry stools due to bleeding from the upper gastrointestinal tract. This presentation is rare and should be discussed so that appearance of the less common symptoms can be caught early, leading to an early diagnosis and consequently earlier and more effective management options.
Keywords: Bernard Soulier syndrome; inherited platelet disorder; melena.
© 2021 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group on behalf of Greater Baltimore Medical Center.