case_images: PMC11303181_01
case_images: PMC11303181_02
case_images: (A-J) Computed tomography scans. (A) Thin abdominal wall: fat and thick back fat, fatty liver (Ratio of liver CT value to spleen CT value = 41/54 = 0.76). (B) Decreased intermuscular fat in the abdominal wall and psoas major muscle. (C) Thin chest fat and decreased intermuscular fat. (D) Thin fat on the chest wall, relatively thick fat on the back, and very little fat in the armpit. (E) Noticeably thicker fat in the posterior neck area. (F) Lot of fat in the neck area. (G-M) Magnetic resonance imaging. (G-J) Thin abdominal fat layer and decreased intermuscular fat. (M) Significantly enlarged liver. (L,M) Fatty liver. (N) Liver pathology (Hematoxylin and Eosin stain, x200): The structure of hepatic lobules is preserved in the liver tissue, with a small amount of infiltrated lymphocytes and an infiltration of a small number of plasma cells infiltration in the portal area. The interlobular bile duct structure is present. There is an enlarged fibrosis, with observable fibrous tissue septa. Partial hepatic cells have undergone fatty degeneration, predominantly in the form of large vesicles. The Steatosis, Activity, and Fibrosis score (steatosis 2, ballooning 1, lobular inflammation 2, fibrosis 2) was consistent with non-alcoholic steatohepatitis (equivalent to G1-2/S2).
case_images: fgene-15-1417613-g001.jpg
case_images: PMC11303181_02_fgene-15-1417613-g001.jpg
case_images: F1
case_images: Computed tomography scans (Figures 1A-J) showed fatty liver. Magnetic resonance imaging scans (Figures 1G-M) showed hepatomegaly and fatty liver. The liver tissue pathology (Figure 1N) showed Moderate fatty liver. Bilateral fundus photography (Supplementary Figure S1) revealed that within the visible range, the optic disc boundary was clear and of normal color; the cup-to-disc (C/D) ratio was normal; the shape of the retinal blood vessels was acceptable; the foveal reflex was positive, and there were multiple spots of hemorrhage and exudation visible in the posterior pole.
case_images: Patient's parental generation sequencing verification analysis. Compound heterozygous mutations was analyzed in the LIPE gene in the sample: A frameshift mutation c.2497_250ldel in the exon8 results in an amino acid change p. Glu833LysfsTer22. The father has a heterozygous mutation at this locus, while the mother shows no mutation at this locus; A frameshift mutation c.2705del in the exon9 results in an amino acid change p. Ser902ThrfsTer27. The mother has a heterozygous mutation at this locus, while the father shows no mutation at this locus.
case_images: fgene-15-1417613-g002.jpg
case_images: PMC11303181_02_fgene-15-1417613-g002.jpg
case_images: F2
case_images: After familial verification analysis, it was determined that the patient's mother had a heterozygous mutation at this locus, while the father showed no mutation at this locus (Figure 2).