Theran-León JS, Dulcey-Sarmiento LA, Esteban-Badillo LY

Language: Spanish
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ABSTRACT

Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes of the four subunits of the Nicotinamide adenine dinucleotide phosphate oxidase (NADPH) complex. Clinical findings include lymphadenopathy, hepatosplenomegaly, and recurrent pneumonia. We present the case of a 17-year-old male patient with a productive cough, purulent expectoration, progressive dyspnea and weight loss. At the cervical level, he presented bilateral lymph nodes, disseminated pulmonary rhonchi without cardiac abnormalities, hepatosplenomegaly, on admission with pancytopenia and a chest X-ray image compatible with aspergilloma; Bone marrow aspirate was performed with positive culture for fungi compatible with Aspergillus, staining and flow cytometry with confirmation of hemophagocytosis and chronic granulomatous disease. The diagnosis of pulmonary aspergillosis complicated with hemophagocytic syndrome secondary to chronic granulomatous disease is established, which is exceptional because it is the first report where the three entities coexist in the same patient.