Publicar

TROMBOCITOPENIA MACROCÍTICA CONGÊNITA: PERFIL CLÍNICOHEMATOLÓGICO DA SÍNDROME DE BERNARD-SOULIER EM CASOS PEDIÁTRICOS

Doi: 10.47094/978-65-284-0201-4/291-299

PALAVRAS CHAVE: Transfusões plaquetárias. Epistaxes recorrentes. Hemostasia primária.

KEYWORDS: Platelet transfusions. Recurrent epistaxis. Primary hemostasis.

ABSTRACT:
Bernard-Soulier Syndrome (BSS) is a rare inherited thrombocytopathy characterized by macrocytic thrombocytopenia and platelet dysfunction caused by mutations in genes encoding the GPIb-IX-V complex, essential for platelet adhesion to von Willebrand factor. In children, early diagnosis is challenging, as initial bleeding symptoms such as epistaxis, petechiae, and ecchymoses may be mistaken for other hemorrhagic disorders. This study aimed to analyze the clinical and hematological profile of pediatric patients with BSS, highlighting laboratory findings, clinical manifestations, and therapeutic approaches.

Autores

  • Andrea Almeida Zamorano

Download