case_images: PMC11821940_01
case_images: Chest CT scan ((A) transverse view and (B) coronal view) both showing widespread ground-glass opacities in both lungs, along with thickened interlobular septa. (C) Bronchoalveolar lavage fluid appeared milky white.
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case_images: PMC11821940_01_fphar-16-1487993-g001.jpg
case_images: F1
case_images: B). Bronchoalveolar lavage fluid (BALF) appeared milky white (Figure 1C), and periodic acid-Schiff (PAS) staining was positive.
case_images: Timeline of medical history from birth to death in a 5-month-old boy with IARS1 deficiency. Abbreviation: NIPPV = Non invasive positive pressure ventilation; IMV = Intermittent mandatory ventilation; WLL = Whole lung lavage.
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case_images: PMC11821940_01_fphar-16-1487993-g002.jpg
case_images: F2
case_images: Due to severe hypoxemia, he could not tolerate a second WLL, ultimately leading to respiratory failure and death on the 15th day of hospitalization (Figure 2).
case_images: (A) Sanger DNA sequencing of the IARS1 gene in a 5-month-old boy with IARS1 deficiency and the carrier status of his parents. (B) Schematic representation of the domain structure of the IARS protein, indicating the locations of the variants.
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case_images: PMC11821940_01_fphar-16-1487993-g003.jpg
case_images: F3
case_images: Two weeks after the patient's death, WES results were finally available, identifiing compound heterozygous variants (c.2428C>T [p.Arg810X] and c.128T>C [p.Phe43Ser]) in the IARS1 gene, inherited from the father and mother, respectively (Figure 3).