Abstract
Chronic granulomatous disease is a rare disorder characterized by genetic mutations that causes defects in the NADPH oxidase of phagocytes, resulting mainly in higher predisposition to fungal and bacterial infections that threatens life. Our objective, with this study, is to report a case of chronic granulomatous disease diagnosed in a patient followed in a pediatric institute in Rio de Janeiro. A male teenage, presented while an infant with many recurrent, difficult to solve cutaneous infections. The patient evolved, as years passed by, with Mycobacterium tuberculosis hepatic abscess and severe fungal pneumonia, before confirming the CGD diagnosis. Currently, the patient is using the indicated prophylactic drugs and his clinical condition is controlled. Early diagnosis aiming to start suitable antimicrobial and antifungal prophylaxis is fundamental to achieve better disease control and mainly to improve patients’ prognosis and quality of life.
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