Chronic granulomatous disease masquerading as a bladder tumor: a potential source of diagnostic error

Abstract

Chronic granulomatous disease (CGD) is a rare inherited disease of childhood, characterized by recurrent bacterial or fungal infections. The underlying defect is a dysfunction of neutrophil granulocytes interfering with their ability to kill phagocytosed microorganisms. Genitourinary tract involvement has been reported in 38% of these patients. We report a case of CGD in whom the most important findings were urinary bladder tumors at different locations and a subsequent obstruction of the left ureter. A review of the pathogenesis of the disease, potential involvement of the urinary tract and treatment is presented.