Atypical Presentation of Chronic Granulomatous Disease in a Neonate with a Pulmonary Granuloma Mimicking a Tumor: A Case Report
10.3348/jksr.2020.81.4.990
- Author:
Young Jin YOO
1
;
Joo Sung SUN
;
Jang Hoon LEE
;
Hyun Joo JUNG
;
Yeong Hwa KOH
;
Joonho JUNG
;
Hyun Gi KIM
Author Information
1. Departments of Radiology, Ajou University School of Medicine, Ajou University Medical Center, Suwon, Korea
- Publication Type:Case Report
- From:Journal of the Korean Radiological Society
2020;81(4):990-995
- CountryRepublic of Korea
- Language:English
-
Abstract:
Chronic granulomatous disease (CGD) is an uncommon primary immune deficiency caused by phagocytes defective in oxygen metabolite production. It results in recurrent bacterial or fungal infections. Herein, we present a case of CGD with a large pulmonary granuloma in a neonate and review the imaging findings. The patient was a 24-day-old neonate admitted to the hospital with fever. A round opacified lesion was identified on the chest radiograph. Subsequent CT and MRI revealed a round mass with heterogeneous enhancement in the right lower lobe. There were foci of diffusion restriction in the mass. Surgical biopsy of the mass revealed chronic granuloma. Finally, the neonate was diagnosed with CGD caused by mutation of the gp91phox gene. Herein, we present the clinical and imaging findings of this unusual case of CGD.
