case_images: PMC10565210_01
case_images: CT scan revealed multiple calcifications in the brain (A,B). CT scan revealed cirrhosis and ascites (C). Intracranial SWI showed multiple micro hemorrhage foci in addition to calcifications in the brain (D,E). CT, computed tomography; SWI, susceptibility weighted imaging.
case_images: fgene-14-1278511-g001.jpg
case_images: PMC10565210_01_fgene-14-1278511-g001.jpg
case_images: F1
case_images: CT revealed multiple calcifications in the brain (Figures 1A, B), cirrhosis, ascites, and pelvic effusion (Figure 1C). Intracranial susceptibility weighted imaging revealed multiple microhemorrhage foci in addition to calcifications in the brain (Figures 1D, E). Gastrointestinal endoscopy, as shown in Supplementary Figure S1, was successively performed and revealed erosive hemorrhagic gastritis, moderate to severe esophageal varices with a red sign, a large and tortuous rectal submucosal vascular network, and internal hemorrhoids.
case_images: Histologic features of renal lesions. Mesangial lysis indicated by the black arrow. (A) hematoxylin and eosin; (B,C) periodic acid-Schiff; (D) Masson's trichrome; (E) periodic acid-silver methenamine; (A-E, magnification, x200). (F) Electron microscopic view of endothelial cells that are proliferating and swelling in pairs (as indicated by the red arrow), and no obvious electron compact deposition in the basement membrane and mesangial regions.
case_images: fgene-14-1278511-g002.jpg
case_images: PMC10565210_01_fgene-14-1278511-g002.jpg
case_images: F2
case_images: The renal puncture biopsy tissue contained 14 glomeruli, four of which were spherically sclerotic, while the rest were diffuse mesangial lyses, showing diffuse proliferation and swelling of endothelial cells, shrinkage of capillary loops, and stenosis of the capillary lumen (Figure 2).
case_images: Changes in the activity of antithrombin-III and D-dimer. The X-axis indicates the time points of follow-up, the left Y-axis represents the activity of antithrombin-III, and the right Y-axis represents D-dimer. The red curve denotes the activity of antithrombin-III and the green curve represents D-dimer.
case_images: fgene-14-1278511-g003.jpg
case_images: PMC10565210_01_fgene-14-1278511-g003.jpg
case_images: F3
case_images: The activity of antithrombin III in the plasma was monitored during hospitalization by chromogenic substrate method with AT III Kit, and the results were shown below the normal range always, even below 50% (Figure 3), and the highest D-dimer value was 86.70 mug/mL.
case_images: The SERPINC1 mutation sites. Leu, leucine; Cys, cysteine; Val, valine; Tyr, tyrosine; Unaffected, unaffected member.
case_images: fgene-14-1278511-g004.jpg
case_images: PMC10565210_01_fgene-14-1278511-g004.jpg
case_images: F4
case_images: The mutation site in this proband was chr1-173884049 c.50A>G in exon 2, which led to a missense mutation at the amino acid level (Figure 4).