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KMID : 1103720200810040990
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Journal of the Korean Society of Radiology
2020 Volume.81 No. 4 p.990 ~ p.995
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Atypical Presentation of Chronic Granulomatous Disease in a Neonate with a Pulmonary Granuloma Mimicking a Tumor: A Case Report
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Yoo Young-Jin
Sun Joo-Sung
Lee Jang-Hoon
Jung Hyun-Joo
Koh Yeong-Hwa
Jung Joon-Ho
Kim Hyun-Gi
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Abstract
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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.
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KEYWORD
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Newborn, Pulmonary Aspergillosis, Infection, Genetic Disease, Congenital
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