Pulmonary Granulomatous Inflammation and Unexplained Repeated Infections-A Case of Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare inherited disorder caused by a failure of intracellular superoxide production by phagocytes. It is usually identified in early childhood with severe recurrent bacterial and fungal infections. We present a case of CGD in a young male adult in whom the disease initially presented with left middle lung consolidation with cavitation. The patient had a history of unexplained repeated infection (including liver abscess and submandibular cellulitis at the age of 17 and 19 years). A specimen of cutting biopsy of the lung showed granulomatous inflammation. Pulmonary granuloma is a common manifestation of tuberculosis in Taiwan, but no acid-fast bacilli were identified by Ziehl-Neelsen staining in a specimen of sputum and cutting biopsy. In addition, no autoimmune disease was detected. The patient had negative respiratory burst activity in the polymorphonuclear leukocyte function test, a low response in the chemiluminescence test, and a normal finding in the chemotaxis assay, so the diagnosis of CGD was finally established. CGD rarely starts presenting in adulthood, either because it is not well-recognized in non-pediatric chest wards or because of the administration of potent antimicrobials that unintentionally treat many CGD-associated infections, postponing the diagnosis until more severe infections occur. Therefore, any adolescent or adult with unexplained and repeated infections that are accompanied by granuloma formation should be checked for phagocyte function defects. Early diagnosis of CGD is important because of the benefits of timely treatment and infection prophylaxis.