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

신생아에서 종양으로 오인되는 폐 육아종의 비전형적인 소견을 보인 만성 육아종성 질환: 증례 보고

  • Young Jin Yoo (Department of Radiology, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Joo Sung Sun (Department of Radiology, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Jang Hoon Lee (Department of Pediatrics, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Hyun Joo Jung (Department of Pediatrics, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Yeong Hwa Koh (Department of Pathology, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Joonho Jung (Department of Cardiac Surgery, Ajou University School of Medicine, Ajou University Medical Center) ;
  • Hyun Gi Kim (Department of Radiology, Ajou University School of Medicine, Ajou University Medical Center)
  • 유영진 (아주대학교병원 영상의학과) ;
  • 선주성 (아주대학교병원 영상의학과) ;
  • 이장훈 (아주대학교병원 소아청소년과 ) ;
  • 정현주 (아주대학교병원 소아청소년과 ) ;
  • 고영화 (아주대학교병원 병리과 ) ;
  • 정준호 (아주대학교병원 흉부외과) ;
  • 김현지 (아주대학교병원 영상의학과)
  • Received : 2018.11.14
  • Accepted : 2019.10.30
  • Published : 2020.07.01

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.

만성 육아종성 질환은 유전성 면역결핍질환으로 포식세포가 정상기능을 하지 못함으로써 만성적이고 반복적인 감염이 생긴다. 염증성 육아종의 형성은 다양한 장기에서 관찰되며 폐를 침범할 경우 영상학적 특징으로는 대부분 다발성 결절 또는 경결로 나타난다. 저자들은 신생아에서 종양으로 오인되는 폐 육아종의 비전형적인 소견을 보인 만성 육아종성 질환을 경험하였기에 이를 보고하고자 한다. 본 증례는 발열을 주소로 내원한 생후 24일된 남아로 전산화단층촬영 영상에서 우하폐에 위치한 비균질 조영 증강되는 종괴가 있었다. 종괴 내부 조영 증강되지 않는 부분은 자기공명영상의 확산강조영상에서 고신호 강도를 보였다. 환자는 수술적 절제를 시행하였고 X-염색체 연관 gp91phox 유전자 돌연변이의 만성 육아종성 질환으로 확인되었다. 이에 우리는 본 증례 발표를 통해 이러한 비전형적인 만성 육아종성 질환의 임상적, 영상학적인 특징에 대해 서술하고자 한다.

Keywords

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