Adenomatous polyposis syndromes Familial adenomatous polyposis (FAP) MYH-associated polyposis (MAP) Turcots syndrome Lynch syndrome Hamartomatous polyps Solitary juvenile polyp Juvenile polyposis syndrome PTEN hamartoma tumor syndrome Peutz–Jeghers syndrome Inflammatory polyps…
Fig. 54.1 T2W MRI image of a patient with BASM. The liver is cirrhotic with a large central regenerative nodule and atrophied left lobe and posterior segments of the right…
Disease name Aliases Gene Protein Features FIC1 deficiency Byler disease, PFIC1 ATP8B1 FIC1 Multisystem disorder Wide range of severity BSEP deficiency Byler syndrome, PFIC2 ABCB11 BSEP Liver only affected Spectrum…
Fig. 56.1 Schematic illustration of biliary atresia (based on Japanese Association of Pediatric Surgeons classification) A more radical approach to the technique was pioneered in Sendai, Japan, during the 1950s…
Fig. 67.1 Ultrasonography (a) and colour Doppler (b) showing cavernomatous transformation of the portal vein in a 14-year-old boy with portal vein thrombosis. Liver MRI illustrating coronal (c), (d) and…
Fig. 68.1 Anatomy of the portal system In this system, the central vessel is the portal vein, which is formed by the union of the splenic vein (SV) and the…
Benign Hemangioma: focal, multiple, diffuse Mesenchymal hamartoma Hepatic adenoma Focal nodular hyperplasia Inflammatory myofibroblastic tumor (may be locally invasive) Malignant Primary Hepatoblastoma Hepatocellular carcinoma, fibrolamellar HCC Transitional tumors Embryonal sarcoma…
Cholestasis α1-antitrypsin deficiency Arginase deficiency (UCD) Bile acid metabolism defects, e.g. CTX Byler disease CDGs Cholesterol synthesis defects Citrin deficiency Galactosaemia LCHAD Mevalonic aciduria Niemann–Pick C (LSD) Peroxisomal defects Tyrosinemia…
Fig. 3.1 Common anatomical variants of EA/TEF anomalies. a EA with distal TEF, b isolated EA with no TEF, c H-type TEF, d proximal and distal TEF, e EA with…
Etiology of liver cirrhosis Metabolic liver disease α1-Antitrypsin deficiency Wilson disease Progressive familial intrahepatic cholestasis Glycogen storage diseases (especially types IV, VI, IX, and X) Lipid abnormalities (e.g., Gaucher disease)…
