False statement about alagille syndrome
Ans. (d) No Risk of hepatocellular carcinoma(Ref: Robbins 9th/pg 853; 8th/pg 854)Alagille Syndrome (Syndromic Paucity of Bile Ducts; Arteriohepatic Dysplasia)An autosomal dominant disorder characterized by absence of bile ducts in portal tracts.Caused by mutations or deletion of gene encoding Jagged 1, on chromosome 20p.Patients can survive into adulthood but are at risk for hepatic failure & hepatocellular carcinomaMajor clinical features:#Chronic cholestasis#Peripheral pulmonary artery stenosis#Butterfly-like vertebral arch defects#An eye defect known as posterior embryotoxon,#A peculiar hypertelic, triangular facies.
Complete absence of bile ducts
Normal liver
Mutations in Jagged 1 gene
No Risk of hepatocellular carcinoma
Liver & Biliary Tract