Isolated congenital asplenia with cryptogenic liver fibrosis and a novel SON variant: A case report

Figure 1 Magnetic resonance cholangiopancreatography findings in isolated congenital asplenia. A: Axial T1-weighted image shows absence of the spleen, with no history of splenectomy; B: Axial T2-weighted image further confirms splenic agenesis, without evidence of accessory splenic tissue or other focal splenic lesions.

Figure 2 Portal vein computed tomography venography in isolated congenital asplenia. A: Arterial phase computed tomography (CT) image demonstrates hepatic cirrhosis, absence of the spleen, and gallbladder wall edema with pericholecystic fluid; B: Venous phase CT image confirms portal hypertension, esophageal and gastric varices, and ascites, with no evidence of splenic tissue.

Figure 3 Pathological findings of ultrasound-guided liver biopsy. A: Hematoxylin and eosin (H&E) staining (× 40); B: H&E staining (× 200).

Figure 4 Genetic sequencing of a variant in the SON gene (chromosome 21 34927155, NM_138927. 1: C.5618G>A, p.Ser1873Asn).