Atypical Presentation of Chronic Granulomatous Disease in a Neonate with a Pulmonary Granuloma Mimicking a Tumor: A Case Report
유영진, 선주성, 이장훈, 정현주, 고영화, 정준호, 김현지,
소속 상세정보
유영진 ( Yoo Young-Jin )
Ajou University School of Medicine Ajou University Medical Center Department of Radiology
선주성 ( Sun Joo-Sung )
Ajou University School of Medicine Ajou University Medical Center Department of Radiology
이장훈 ( Lee Jang-Hoon )
Ajou University School of Medicine Ajou University Medical Center Department of Pediatrics
정현주 ( Jung Hyun-Joo )
Ajou University School of Medicine Ajou University Medical Center Department of Pediatrics
고영화 ( Koh Yeong-Hwa )
Ajou University School of Medicine Ajou University Medical Center Department of Pathology
정준호 ( Jung Joon-Ho )
Ajou University School of Medicine Ajou University Medical Center Department of Cardiac Surgery
김현지 ( Kim Hyun-Gi )
Ajou University School of Medicine Ajou University Medical Center Department of Radiology
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.
키워드
Newborn; Pulmonary Aspergillosis; Infection; Genetic Disease; Congenital
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