Absence of intra hepatic bile duct leads to which syndrme?
ANSWER: (D) Alagille SyndromeREF: Robbin s pathology chapter 18ANOMALIES OF THE BILIARY TREES (INCLUDING LIVER CYSTS)A heterogeneous group of lesions exist in which the primary abnormality is altered architecture or paucity of the intrahepatic biliary tree. Lesions may be found incidentally during radiographic studies, surgery, or at autopsy. Such conditions may become manifest as hepatosplenomegaly and portal hypertension in the absence of hepatic dysfunction, starting in late childhood or adolescence. There are five distinct conditions: von Meyenburg complexes, polycystic liver disease, congenital hepatic fibrosis, Caroli disease, and Alagille syndrome.Von Meyenburg Complexes: These are small clusters of modestly dilated bile ducts embedded in a fibrous, sometimes hyalinized, stroma located close to or within portal tracts. These lesions are often referred to as "bile duct hamartomas". Von Meyenburg complexes are common and without clinical significance except in the differential diagnosis of metastases to the liver.Polycystic Liver Disease: In this disease there are multiple diffuse cystic lesions in the liver, varying in number from a scattered few to hundreds. The cysts, lined by cuboidal or flattened biliary epithelium, contain straw-colored fluid.Congenital Hepatic Fibrosis: In this condition portal tracts are enlarged by irregular, broad bands of collagenous tissue, forming septa that divide the liver into irregular islands. Variable numbers of abnormally shaped bile ducts are embedded in the fibrous tissue, and are in continuity with the biliary treeCaroli Disease: In this disease the larger ducts of the intrahepatic biliary tree are segmentally dilated and may contain inspissated bile. Pure forms are rare; this disease is usually associated wdth portal tract fibrosis of the congenital hepatic fibrosis type.Alagille Syndrome (Syndromatic Paucity of Bile Ducts; Arteriohepatic Dysplasia): This is a rare autosomal dominant multi-organ disorder, in which the liver pathology is characterized by absence of bile ducts in portal tracts. The syndrome is caused by mutations or deletion of the gene encoding Jaggedl, which is located on chromosome 20p. Jaggedl is a cell surface protein that functions as a ligand for Notch receptors. Affected patients have five major clinical features: chronic cholestasis, peripheral stenosis of the pulmonary artery, butterfly-like vertebral arch defects, an eye defect known as posterior embryotoxon, and a peculiar hypertelic facies. Patients can survive into adulthood but are at risk for hepatic failure and hepatocellular carcinoma.
Von Meyenburg Complexes
Polycystic Liver Disease
Caroli Disease
Alagille Syndrome
Liver