An abdominal ultrasound performed by an expert radiologist allowed us to confirm the diagnosis of LPAC syndrome, showing a comet tail image along the intrahepatic bile ducts. Ursodeoxycholic acid was started without waiting for the result of the ABCB4 mutation. The outcome was spectacular with ...
LPAC syndrome associated with the presence of intrahepatic non cystic bile duct dilatations filled with cholesterol gallstonesOlivier, RosmorducRaoul, Poupon
Low phospholipid associated cholelithiasis (LPAC) syndrome, first described in 2001, could be the causality in a significant number of young patients with cholelithiasis, who have a recurrence of symptoms despite cholecystectomy. A mutation of the ABCB4/MDR3 gene, causes a disruption in the ...
Massive Extra- and Intrahepatic Lithiasis in a Young Patient: a Case of LPAC-Syndrome?Journal of Gastrointestinal Surgery -doi:10.1007/s11605-020-04859-1Antonio CubisinoAntoine GautierPiera LeonSpringer USJournal of Gastrointestinal Surgery
Eventually, we reported, here, the first description of an ABCB4 missense mutation (p.Arg47Gln) at homozygous state in a Tunisian LPAC syndrome. An elucidation of its functional consequences was performed. Besides, this case suggests that the delayed diagnosis of LPAC syndrome and the lack of ...
LPAC syndrome: An uncommon etiology of intrahepatic cholelithiasisdoi:10.1016/j.lpm.2018.11.006Mouna MedhioubHend AyediMohamed Lamine HamzaouiAmal KhsibaMoufida MahmoudiMohamed Moussadek AzzouzLa Presse Médicale