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