Korean J Pediatr.  2010 Jun;53(6):722-726. 10.3345/kjp.2010.53.6.722.

A case report of chronic granulomatous disease presenting with aspergillus pneumonia in a 2-month old girl

• Lee E
• Oh SH
• Kwon JW
• Kim BJ
• Yu J
• Park CJ
• Hong SJ

• KMID: 2280953
• DOI: http://doi.org/10.3345/kjp.2010.53.6.722

Abstract

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-gamma 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.

Keyword

Chronic granulomatous disease; Aspergillosis; Pneumonia; BAL culture; Amphotericin B; Voriconazole; Infant

MeSH Terms

Amphotericin B
Aspergillosis
Aspergillus
Bacteria
Bronchoalveolar Lavage Fluid
Burkholderia cepacia
Catalase
Follow-Up Studies
Fungi
Granulomatous Disease, Chronic
Homicide
Humans
Infant
Invasive Pulmonary Aspergillosis
Lung
NADPH Oxidase
Nocardia
Phagocytes
Pneumonia
Pulmonary Aspergillosis
Pyrimidines
Serologic Tests
Serratia marcescens
Staphylococcus aureus
Triazoles
Amphotericin B
Catalase
NADPH Oxidase
Pyrimidines
Triazoles