title: Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.
abstract: BACKGROUND
  ABCB4/MDR3 gene variants are mostly associated with a peculiar form of cholelithiasis in European adults, currently referred to as low phospholipid-associated cholelithiasis (LPAC) syndrome.
  
  
  METHODS
  LPAC syndrome is a rare genetic disorder, characterised by the following clinical features: biliary symptoms before the age of 40, recurrence of the symptoms after cholecystectomy, and intrahepatic microlithiasis or intrahepatic hyperechogenic foci.
  
  
  RESULTS
  Imaging features associated with ABCB4/MDR3 mutations are not specific and correspond to a wide spectrum of biliary abnormalities. The main feature is the presence of intrahepatic lithiasis. Other uncommon presentations have been described, such as uni- or multifocal spindle-shaped dilatations of the intrahepatic bile ducts filled with gallstones, secondary sclerosing cholangitis, biliary cirrhosis, and intrahepatic cholangiocarcinoma.
  
  
  CONCLUSIONS
  This review focuses on MR features related to ABCB4/MDR3 mutations.
  
  
  CONCLUSIONS
  • LPAC syndrome is characterised by intrahepatic microlithiasis or intrahepatic hyperechogenic foci. • Ultrasound examination is very accurate in detecting intrahepatic stones. • At MR imaging, LPAC syndrome is associated with various presentations.
authors.affiliation: Department of Radiology, AP-HP Saint-Antoine Hospital, Université Pierre et Marie Curie, 184, rue du Faubourg Saint-Antoine, 75571, Paris cedex 12, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Benzimra
authors.forename: Sarah
authors.initials: S
authors.lastname: Derhy
authors.forename: Olivier
authors.initials: O
authors.lastname: Rosmorduc
authors.forename: Yves
authors.initials: Y
authors.lastname: Menu
authors.forename: Raoul
authors.initials: R
authors.lastname: Poupon
authors.forename: Lionel
authors.initials: L
authors.lastname: Arrivé