case_images: PMC11140116_01
case_images: Electrophoretic map of TH gene mutation in patients.
case_images: fgene-15-1391936-g001.jpg
case_images: PMC11140116_01_fgene-15-1391936-g001.jpg
case_images: F1
case_images: Five months after her presentation, whole exome sequencing revealed a variant in the SMPD1gene (chromosomal position chr11: 6415105_6415108, variant information NM: 000,543.5: c.1341-21_1341-18del, genetic pattern AR, homozygote, ACMG variant classification pathogenic variation) and Segawa syndrome [variant gene TH, chromosomal position chr11: 2188714, variant information NM_199,292.3: c.739G>A (p.Gly247Ser), genetic pattern AR, homozygote, ACMG variant classification pathogenic variation] (Figure 1).
case_images: (A) The axial position of the high resolution thoracic CT of the patient. (B) The coronal plane of the high resolution CT of the patient.
case_images: fgene-15-1391936-g002.jpg
case_images: PMC11140116_01_fgene-15-1391936-g002.jpg
case_images: F2
case_images: The interlobular septum exhibited slight local thickening (Figure 2).
case_images: (A) The X-ray positive position of the patient. (B) The X-ray lateral position of the patient.
case_images: fgene-15-1391936-g003.jpg
case_images: PMC11140116_01_fgene-15-1391936-g003.jpg
case_images: F3
case_images: Plain radiography of the patient's hands revealed that the bone trabeculae of both hands were slightly sparse, density was slightly reduced, the cortex was thinner, the marrow cavity was widened, and the alignment of the distal interphalangeal joints of the left index and middle fingers and the proximal interphalangeal joints of the right little finger showed swan neck-like changes (Figure 3).
case_images: (A) The abdominal ultrasound image of the patient. (B) The axial abdominal CT image of the patient.
case_images: fgene-15-1391936-g004.jpg
case_images: PMC11140116_01_fgene-15-1391936-g004.jpg
case_images: F4
case_images: Abdominal ultrasonography and CT revealed enlargement of the liver and spleen (Figure 4).
case_images: PMC11140116_02
case_images: PMC11140116_03