Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the
superoxide-generating phagocyte
NADPH oxidase system, which is essential for killing
catalase producing bacteria and fungi, such as Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species and Burkholderia cepacia. In case of a history of recurrent or
persistent infections, immune deficiency should be investigated. Particularly, in the case of uncommon
infections such as
aspergillosis in early life, CGD should be considered. We describe here a case of CGD that presented with
invasive pulmonary aspergillosis in a 2-month-old girl. We confirmed
pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid, positive serological test for Aspergillus
antigen and radiology results. She was successfully treated with
Amphotericin B and recombinant IFN-γ initially. Six weeks later after discharge, she was readmitted for
pneumonia. Since there were infiltrates on the right lower lung, which were considered as residual lesions,
voriconazole therapy was initiated. She showed a favorable response to the treatment and follow-up CT showed regression of the pulmonary infiltrates.