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

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 (<i>ETV6</i>). This case underscores the importance of comprehensive genetic evaluation in guiding individualized therapy and long-term surveillance.

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Publication Details

Journal
International Medical Case Reports Journal
Published
2025-10-01
DOI
https://doi.org/10.2147/imcrj.s537936
Primary Topic
Platelet Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Rubén Lutfi, Eman Almatar, Sondus Alsharidah, Omnia A. Hashem
International Medical Case Reports Journal
Platelet Disorders and Treatments
article

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

Rubén Lutfi, Eman Almatar, Sondus Alsharidah, Omnia A. Hashem
article en

Abstract

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 (<i>ETV6</i>). This case underscores the importance of comprehensive genetic evaluation in guiding individualized therapy and long-term surveillance.

International Medical Case Reports JournalVol. Volume 18
Al-Sabah Hospital (KW), Children's Specialized Hospital (US)
Openalex Percentile: Top 58%
Platelet Disorders and Treatments
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