case_images: PMC9243653_01
case_images: Imaging findings of the patient. (A,B) CT: No pathological findings were found. No dilatation of intrahepatic and external bile ducts was noted. There was no thickening or enhancement of extrahepatic bile ducts. The gallbladder is collapsed without bile filling; (C,D) MRCP: Possible stenosis at the beginning of the common hepatic duct. (E) Endoscopic ultrasonography: The extrahepatic bile duct was fine without dilation, and no definite obstruction was observed. (F) Gastroscopy: The size and morphology of the duodenal papilla were normal.
case_images: fmed-09-897108-g001.jpg
case_images: PMC9243653_01_fmed-09-897108-g001.jpg
case_images: F1
case_images: Gastroscopy showed the size and morphology of the duodenal papilla were normal (Figure 1). T888K NM_00560 3.4) (Supplementary Table 1), and genetic tests on his parents showed that the mutation was inherited from his father (Supplementary Figure 1).
case_images: Histological findings of liver biopsy in the patient. (A) HE staining at 200x magnification; (B) HE staining at 400x magnification; (C) CK7 staining at 200x magnification; (D) Masson staining at 200x magnification. The lobule structure is clear. The main lesions were cholestasis with hepatocytes in central lobules II and III (red arrow), bile embolism with capillary bile ducts and cholestasis with Kupffer cells. No obvious inflammatory necrosis was observed in the lobules. No enlargement in the sink area or obvious inflammatory cell infiltration was noted. No interfacial inflammation was observed. A small bile duct can be identified. The epithelium of the bile duct is arranged in an orderly manner, and there is no bile duct reaction around the sink area. There was no fibrous tissue proliferation in the interstitium of the portal area, and the portal veins were discernible.
case_images: fmed-09-897108-g002.jpg
case_images: PMC9243653_01_fmed-09-897108-g002.jpg
case_images: F2
case_images: The main lesions were cholestasis with hepatocytes in central lobules II and III, bile embolism of capillary bile ducts and cholestasis with Kupffer cells, and positive staining for CK7 in some hepatocytes in the lobule (Figure 2).