Case number 4 : chronic granulomatous disease (CGD)

Abstract

An 8-year old girl presented with a 2-year history of recurrent nasal skin infections. In this context of a prolonged history of facial and nasal infections, multiple perianal abscesses and a non-specific chronic colitis, an underlying immunodeficiency was suspected. She was referred for further immunological assessment and after ruling out other haematological disorders, the diagnosis of Chronic Granulomatous Disease (CGD) was made following an abnormal Nitroblue Tetrazolium (NBT) test. The patient was started on long-term prophylactic antibiotics and genetic testing is currently being carried out on her family. Bone marrow transplantation is the optimum treatment but will only be considered when the benefits outweigh the risks.