congenital hepatic fibrosis (chf) is a developmental disorder of the biliary system, characterized by defective remodeling of the ductal plate. herein a family of three children, from consanguineous parents, with minor thalassemia is presented who suffered from congenital hepatic fibrosis (chf). prompt diagnosis and appropriate treatment are necessary to avoid further complications in the affec...

INTRODUCTION We describe a case of early and persistent reverse end-diastolic flow in the middle cerebral artery in a fetus with severe ascites. These features are associated with a rare liver malformation known as ductal plate malformation. CASE PRESENTATION A 28-year-old Caucasian woman was referred to our high-risk obstetric unit at 24 weeks' gestation for fetal ascites detected during a r...

In the development of the human biliary system, the extrahepatic bile ducts (EHBD) develop from the embryonic hepatic diverticulum, while the intrahepatic bile ducts (IHBD) originate within the liver from the ductal plate. The ductal plate is a flat muralium of primitive biliary epithelium that develops in the mesenchyme along the branches of the portal vein, by a process which requires a delic...

Rare liver diseases caused by ductal plate malformation, such as congenital hepatic fibrosis (CHF), Caroli syndrome, and polycystic disease, can have clinical manifestations recurrent cholangitis—frequently involving multidrug-resistant microorganisms—leading to difficulties in selecting the optimal antimicrobial treatment. Without prompt recognition, these infections severely hamper patient’s ...

We report an otherwise healthy 32-year-old man with portal hypertension, variceal bleeding, and congenital hepatic fibrosis with ductal plate malformation. Genetic screening identified two TMEM67 mutations. Biallelic TMEM67 mutations are known to cause Joubert/Meckel syndrome or nephronopthisis with hepatic fibrosis, but have never been found in isolated hepatic fibrosis.

Cholangiocarcinoma arising in the liver can be classified into intrahepatic (or peripheral) cholangiocarcinoma (ICC) or perihilar cholangiocarcinoma, depending on the topographic location of the tumor along the intrahepatic biliary tree. Grossly, peripheral ICC usually presents as a mass-forming type, while perihilar ICC may present as mass-forming, periductal infiltrating, or intraductal-growt...

Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiag...

OBJECTIVE The purpose of this essay is to illustrate the imaging findings of congenital cystic lesions of the biliary tract. CONCLUSION Congenital cystic lesions of the biliary tract include ductal plate malformations and choledochal cysts and can be recognized with characteristic imaging findings and basic knowledge of the embryologic development of the biliary tree.