J Korean Soc Radiol.  2020 Jul;81(4):990-995. 10.3348/jksr.2020.81.4.990.

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

Affiliations
  • 1Departments of Radiology, Ajou University School of Medicine, Ajou University Medical Center, Suwon, Korea
  • 2Departments of Pediatrics, Ajou University School of Medicine, Ajou University Medical Center, Suwon, Korea
  • 3Departments of Pathology, Ajou University School of Medicine, Ajou University Medical Center, Suwon, Korea
  • 4Departments of Cardiac Surgery, Ajou University School of Medicine, Ajou University Medical Center, Suwon, Korea
  • 5Department of Radiology, Eunpyeong St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea

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.

Keyword

Newborn; Pulmonary Aspergillosis; Infection; Genetic Disease; Congenital
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