Atypical Presentation of Chronic Granulomatous Disease in a Neonate with a Pulmonary Granuloma Mimicking a Tumor: A Case Report

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 f...

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Bibliographic Details
Published in:Journal of the Korean Society of Radiology 2020, 81(4), , pp.990-995
Main Authors: Yoo, Young Jin, Sun, Joo Sung, Lee, Jang Hoon, Jung, Hyun Joo, Koh, Yeong Hwa, Jung, Joonho, Kim, Hyun Gi
Format: Article
Language:English
Subjects:
genetic disease congenital
infection
newborn
Pediatric Imaging
pulmonary aspergillosis
방사선과학
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Summary: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 gp91 phox gene. Herein, we present the clinical and imaging findings of this unusual case of CGD.
ISSN:1738-2637
2288-2928
2951-0805
DOI:10.3348/jksr.2020.81.4.990