A Fatal Case of Chronic Granulomatous Disease in a Young Man

Abstract

Chronic granulomatous disease (CGD) is a rare X-linked or autosomal recessive disorder of early childhood due to defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase enzyme in leukocytes. It increases susceptibility to infections by catalase-positive bacteria and fungi. We report a case of an 18-year-old man with CGD who presented to the hospital with septic shock due to bacteremia, pneumonia, and osteomyelitis due to multiple rare microorganisms. Despite aggressive management, he did not survive. Increasing awareness about the common infections in this rare disease, their prevention, and lifelong treatment is warranted.

Keywords: antimicrobial prophylaxis; catalase positive; chronic granulomatous disease; nadph oxidase; rare autoimmune disease.

Figure 1. CT chest with IV contrast demonstrating pulmonary nodules surrounded by ground glass opacities (big arrow) and bony destruction of ribs (small arrow)

CT: Computed Tomography, IV: Intravenous

Figure 2. CT chest with IV contrast demonstrating a large left pleural effusion (small arrow) and pulmonary nodules surrounded by ground glass opacities (large arrow)

CT: Computed Tomography, IV: Intravenous