case_images: PMC10800497_01
case_images: Chest HRCT features of the patient Interlobular septal thickening (A), traction bronchiectasis (B), ground-glass opacities pointed by a thin arrow and reticular shadows in a white circle (C), reticular shadows (D), and the right upper inferior vein (thin arrow) and right inferior pulmonary vein (thick arrow) (E, F).
case_images: fphar-14-1252193-g001.jpg
case_images: PMC10800497_01_fphar-14-1252193-g001.jpg
case_images: F1
case_images: Computed tomography angiography demonstrated an abnormal communication between the right upper pulmonary vein and the right inferior pulmonary vein at the right hilum, due to the absence of connection between the right superior pulmonary vein and the left atrium (Figure 1).
case_images: Histological examination through transbronchial lung cryobiopsy Section of lung biopsy specimen demonstrating the accumulation of amorphous eosinophilic materials in alveolar space, and alveolar septa are thickened (A), H&E 10x). Fibroblast foci near the terminal bronchiole (white arrow) (B), H&E 10x), dust particles in lung tissues (C), H&E 10x).
case_images: fphar-14-1252193-g002.jpg
case_images: PMC10800497_01_fphar-14-1252193-g002.jpg
case_images: F2
case_images: Fibroblast foci were also observed alongside the terminal bronchiole and there were a few dust particles in lung tissues. (Figure 2).
case_images: Homozygous frame shift mutation of CSF2RB.
case_images: fphar-14-1252193-g003.jpg
case_images: PMC10800497_01_fphar-14-1252193-g003.jpg
case_images: F3
case_images: This led to the early generation of a termination codon at the 106th codon, causing protein truncation (Figure 3).
case_images: Distribution of the CSF2RB mutation in the studied family.
case_images: fphar-14-1252193-g004.jpg
case_images: PMC10800497_01_fphar-14-1252193-g004.jpg
case_images: F4
case_images: The patient's father had passed away due to an unknown lung disease (Figure 4).