Relato de um caso de neutropenia congênita grave em um lactente jovem

• Autor(a) principal: Santos, Lucas Fadel M. Dos [UNIFESP]
• Data de Publicação: 2011
• Outros Autores: Mukai, Adriana De Oliveira, Bertoli, Ciro João, Fernandes, Tânia Aparecida R, Suetugo, Carolina Pereira, Santos, Livia Fadel M. Dos
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0103-05822011000400032; http://repositorio.unifesp.br/handle/11600/6775
• topic: congenital neutropenia; leukocyte elastase; granulocyte colony-stimulating factor; neutropenia congênita; elastase de leucócito; fator estimulador de colônias de granulócitos

OBJECTIVE: To report a case of severe congenital neutropenia and alert pediatricians about its diagnosis in young patients with recurrent infectious diseases. CASE DESCRIPTION: Young infant with 45 days of life, with a history of high fever, lethargy, poor feeding and repeated blood counts showing significant leucopenia due to a significant decrease of polymorphonuclear cells. The diagnosis was confirmed by bone marrow aspirate showing hypoplasia of the granulocytic series and complete absence of mature neutrophils. Treatment was started with broad-spectrum antibiotic therapy and granulocyte colony-stimulating factor, but the patient died due to infectious complications 21 days after hospital admission. COMMENTS: This is a young infant with a rare congenital disorder that leads to severe neutropenia and, therefore, susceptible to potentially fatal infections. In the hospital the infant showed signs and symptoms of sepsis. The diagnosis was based on the clinical history and the presence of repeated altered white cell counts and it was confirmed by bone marrow aspirate. Granulocyte colony-stimulating factor is generally effective, but, in this case, the patient died with a severe infection.