Coexistence of Immune Thrombocytopenic Purpura and Bernard-Soulier Syndrome: A Rare Pediatric Case Report

Sondus Alsharidah, Eman Almatar, Rania Lutfi, Omnia A Hashem Department of Hematology, NBK Specialized Children’s Hospital, Sabah, KuwaitCorrespondence: Eman Almatar, Department of Hematology, NBK Specialized Children’s Hospital, Sabah, Kuwait, Tel +965 99059297, Email [email protected]: Immune thrombocytopenic purpura (ITP) is an autoimmune disorder characterized by low platelet counts, typically presenting with mucocutaneous bleeding. Bernard-Soulier Syndrome (BSS) is a rare inherited platelet disorder associated with thrombocytopenia, giant platelets, and impaired platelet function.Case Report: We present the case of an 8-year-old girl presenting with recurrent epistaxis, mucosal bleeding, and thrombocytopenia. Genetic analysis revealed a heterozygous germline ETV6 mutation associated with thrombocytopenia and leukemia risk, and a GP1BB mutation diagnostic of BSS. She was managed with intravenous immunoglobulin (IVIG) and corticosteroids; Eltrombopag was discontinued due of leukemic risk. The patient’s platelet counts stabilized with supportive management and she remains clinically stable without recurrent severe bleeding.Conclusion: The purpose of this case report is to illustrate the diagnostic challenges and therapeutic considerations in children with coexisting acquired (ITP) and inherited (BSS) thrombocytopenias, particularly in the presence of a leukemogenic predisposition gene (ETV6). This case underscores the importance of comprehensive genetic evaluation in guiding individualized therapy and long-term surveillance.Keywords: immune thrombocytopenic purpura, ITP, Bernard-Soulier syndrome, BSS, ETV6 mutation, GP1BB mutation, genetic testing, pediatric bleeding disorder