Introduction:

Primary immunodeficiencies are diseases of genetic origin caused by quantitative and/or functional alterations of the immune system. The incidence of neutropenia is 3.4 cases per million people per year; it is a heterogeneous entity in terms of etiology, pathophysiology, clinic and response to treatment. It presents with severe manifestations and poor prognosis even with timely diagnosis and treatment.

Objective:

To present to scientific and medical community a case of Congenital Neutropenia with unfavorable evolution.

Case presentation:

Seven-month-old female infant with a history of multiple admissions for complicated upper and lower respiratory tract infections, associated with diarrhea and skin and soft tissue infections (abscesses in the gluteal region and ear pinnae). He was evaluated by Immunology and Hematology and Congenital Neutropenia was diagnosed (Staphylococcus aureus, Pseudomonas sp and Candida albicans infections), absolute neutrophil count on several occasions with values in 108 mm3, absence of granule elements in granulopoietic system in medullogram and studies immunological (absence of thymic area and IgA at 0.14 g/L). Treatment was started with broad-spectrum antimicrobials, immunomodulators (Hebertrans, Leukocin, Prednisone) and paternally donated granulocyte concentrate with little response to treatment. He evolved unfavorably and died of septic shock. The autopsy report confirmed the diagnosis.

Conclusions:

Congenital Neutropenia is suspected in patients with a history of recurrent infections with torpid evolution and neuthopenia, it is of great importance to establish an accurate diagnosis and early therapeutic behavior that favor the reduction of morbidity and mortality.

        · resumen en Español     · texto en Español     · Español ( pdf )