case_images: PMC11112071_01
case_images: The CT scan of the proband. Lower density and normal shape of the liver (CT index is 50 U).
case_images: fmed-11-1354514-g001.jpg
case_images: PMC11112071_01_fmed-11-1354514-g001.jpg
case_images: fig1
case_images: The CT index was 50 HU, suggesting fatty liver (Figure 1). G p.Y486D heterozygous carriers (Supplementary Figures S1A-C). The other mutation was the c.211G > A p.G71R homozygous mutation. G71R is located in exon 1, mutating the 211 guanine (G) into adenine (A) and changing residue 71 from glycine (Gly) to arginine (Arg). His father was a c.211G > A p.G71R homozygous carrier without any symptoms, and his mother was a heterozygosis carrier (Supplementary Figures S1D-F).
case_images: The pathology of liver biopsy. (A) Normal hepatic plate structure with bullous steatosis of peri-central veins of hepatic lobule (indicated by arrow). (B) Sediment of bile pigment (indicated by arrow). (C) Mild periportal inflammation.
case_images: fmed-11-1354514-g002.jpg
case_images: PMC11112071_01_fmed-11-1354514-g002.jpg
case_images: fig2
case_images: A hepatic biopsy showed bullous steatosis of the peri-central veins of the hepatic lobule, bile pigment sedimentation, and mild periportal inflammation with normal liver plate structure (Figure 2).