Chronic granulomatous disease: a case report

Jui-Shan Ma, Po-Yen Chen, Lin-Shien Fu, Ching-Shiang Chi, Ya-Fang Huang, Ching-Yuang Lin, Chi-Chang Shieh
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, ROC

Chronic granulomatous disease (CGD) is a rare inherited disorder caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex of phagocytic leukocytes. The leukocytes of the CGD patients cannot produce adequate amount of superoxide and other oxygen metabolites which are toxic to microorganisms. As a result, the phagocytes fail to kill the ingested microorganisms, especially those with catalase activity. Typically, CGD patients suffer from recurrent pyogenic infections starting from the first year of life. We report a young boy who had experienced recurrent perianal abscess, osteomyelitis and bacterial enterocolitis. Flow cytometric analysis revealed defects in the neutrophil respiratory burst pathway and defined the carrier state of his mother and younger sister. He received antimicrobial prophylaxis at our out-patient clinics and remained well at present. We try to make clinical physician keep in mind the diagnosis of CGD by presenting this typical case. In the meantime, we review the recent literature regarding the advances in diagnosis and management of CGD.

J Microbiol Immunol Infect 2000;33:118-122.