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Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Bottom Line: 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.

View Article: PubMed Central - PubMed

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.

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.

Conclusion: This review focuses on MR features related to ABCB4/MDR3 mutations.

Main messages: • 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.

No MeSH data available.


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Ultrasound/MRCP discrepancy in a 44-year-old man with LPAC syndrome. a Transverse ultrasound showing typical comet-tail artefacts in the left lobe. b The MRCP shows no sign of biliary stone
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Fig1: Ultrasound/MRCP discrepancy in a 44-year-old man with LPAC syndrome. a Transverse ultrasound showing typical comet-tail artefacts in the left lobe. b The MRCP shows no sign of biliary stone

Mentions: Ultrasound examination is very accurate in detecting intrahepatic stones, since they appear as heterogeneous and echoic foci centred on the intrahepatic ducts, or as a “comet-tail” artefact due to ultrasound reverberation (Fig 1) [19, 20]. The artefact is not mobile, as opposed to pneumobilia. The “comet-tail” artefact may be due to intrahepatic lithiasis or to the associated cholangiopathy.Fig. 1


Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.

Benzimra J, Derhy S, Rosmorduc O, Menu Y, Poupon R, Arrivé L - Insights Imaging (2013)

Ultrasound/MRCP discrepancy in a 44-year-old man with LPAC syndrome. a Transverse ultrasound showing typical comet-tail artefacts in the left lobe. b The MRCP shows no sign of biliary stone
© Copyright Policy - OpenAccess
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3675252&req=5

Fig1: Ultrasound/MRCP discrepancy in a 44-year-old man with LPAC syndrome. a Transverse ultrasound showing typical comet-tail artefacts in the left lobe. b The MRCP shows no sign of biliary stone
Mentions: Ultrasound examination is very accurate in detecting intrahepatic stones, since they appear as heterogeneous and echoic foci centred on the intrahepatic ducts, or as a “comet-tail” artefact due to ultrasound reverberation (Fig 1) [19, 20]. The artefact is not mobile, as opposed to pneumobilia. The “comet-tail” artefact may be due to intrahepatic lithiasis or to the associated cholangiopathy.Fig. 1

Bottom Line: 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.

View Article: PubMed Central - PubMed

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.

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.

Conclusion: This review focuses on MR features related to ABCB4/MDR3 mutations.

Main messages: • 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.

No MeSH data available.


Related in: MedlinePlus