Giant platelets and persistent bleeding: a pediatric case of Bernard-Soulier syndrome.

Introduction: Bernard-Soulier syndrome (BSS) is rare inherited bleeding disorder characterized by the deficiency of the glycoprotein Ib-IX-V complex on the platelet surface, crucial for normal platelet function and adhesion to von Willebrand factor (vWF). This condition leads to long bleeding times and symptoms like easy bruising and bleeding from mucous membranes, which usually become noticeable in early childhood. This emphasizes the need for early diagnosis and appropriate treatment for patients with BSS. Case presentation: This report presents an 11-year-old girl who came to the obstetrics and gynecology outpatient department with 20 days of prolonged menstrual bleeding. Her history includes bleeding from her lower lip after a fall at 10 months and easy bruising from minor injuries since childhood. Investigations show severe pallor, thrombocytopenia, mostly large platelets and occasional giant platelets, reduced responses to adenosine diphosphate, arachidonic acid, and collagen, with no response to ristocetin. Flow cytometry revealed reduced CD42a expression but normal CD41/CD61 (GPIIb/GPIIIa). Discussion: This case shows importance of early diagnosis of BSS and differentiating it from vWF and thrombocytopenic purpura. It also shows the role of aggregometry, and flow cytometry play a crucial role in the confirmation of diagnosis. Also, providing patient education and platelet transfusion for severe episodes are the main cornerstones of the management. Conclusion: BSS should be considered in children with unexplained thrombocytopenia and giant platelets. Structured diagnosis is required to prevent mismanagement, and long-term supportive care improves quality of life.