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.
Authors
- Rubén Lutfi
- Eman Almatar
- Sondus Alsharidah
- Omnia A. Hashem (ORCID: https://orcid.org/0009-0000-5262-1309)
Institutions
- Al-Sabah Hospital (KW)
- Children's Specialized Hospital (US)
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