[Severe congenital neutropenia].

Severe congenital neutropenia is a primary immunodeficiency; the lack of maturation of neutrophil precursor in bone marrow and severe neutropenia are the subjacent characteristics which explain a marked susceptibility to severe and recurrent infections; bacteria and fungi are the most common etiologic agents. We report the case of an infant with severe congenital neutropenia that began at 4 days from birth with perianal abscess infections, sepsis, liver abscess, gingivitis and oral ulcers; she required multiple hospitalizations because of the severity of the infections. Isolated agents were Pseudomonas aeruginosa, Staphylococcus hominis and Klebsiella sp. The bone marrow examination showed maturation arrest of myeloid forms, thus confirming the diagnosis of severe congenital neutropenia. Granulocyte colony-stimulating factor was started. The severe congenital neutropenia should be considered in patients with neutropenia and infections in the first month of life. Early diagnosis and treatment improve survival and quality of life of these patients.