FAMILIAL CHRONIC GRANULOMATOUS DISEASE

Abstract

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder of phagocytes, characterized by repeated bacterial and fungal infections. We present a boy suffering from recurrent infections since infancy who was treated with various antibiotics and anti-tuberculosis medicines without any relief. All four of his brothers had recurrent respiratory tract infections and were treated empirically with anti-tuberculosis; all of them expired one after the other without any definitive diagnosis. He was diagnosed at ten years of age with pulmonary aspergillosis and CGD. This case highlights pitfalls of medical management of chronic cases in our society. Because of TB endemic area, it is a common practice among physicians to start anti-tuberculosis medicines without making a definite diagnosis. We recommend thorough investigations including testing for CGD in every patient with recurrent or persistent infections especially if other siblings also have similar manifestations.