Duplication of the extrahepatic bile duct: A case report and review of the literatures.

RATIONALE: Duplication of the extrahepatic bile duct is an extremely rare congenital anomaly of the biliary system. PATIENT CONCERNS: A 44-year-old woman presented with a history of continuous upper abdominal pain and vomiting. DIAGNOSES: Magnetic resonance cholangiopancreatography (MRCP) disclosed diffuse dilatation of the intrahepatic and extrahepatic bile ducts. Endoscopic retrograde cholangiopancreatography (ERCP) showed the presence of two extrahepatic bile ducts with calculus at the distal end of the CBD. INTERVENTIONS: Laparoscopic cholecystectomy (LC) was performed after an ERCP. Choledochoscopy, performed during the operation, showed duplicated common bile duct and the cystic duct was seen opening at the right side of the extrahepatic duct. OUTCOMES: The patient was doing well after 6 months of follow-up. LESSONS: We reported a case of a double common duct with choledocholithiasis and gallstone. This rare anomaly may lead to cholangitis, common bile duct injury during surgery, malignancy occurrence, and should be treated with extreme care.

Síndrome LPAC secundario a deleción del exón 4 del gen ABCB4 en un paciente con hepatitis C / LPAC syndrome associated with deletion of the full exon 4 in a ABCB4 genetic mutation in a patient with hepatitis C

El síndrome LPAC (low-phospholipid-associated cholelithiasis syndrome) está asociado a mutaciones del gen ABCB4, que codifica la proteína MDR3, esencial en la secreción de fosfatidilcolina en las sales biliares. Este síndrome se caracteriza por una mayor prevalencia en mujeres, síntomas biliares en adultos jóvenes y excelente respuesta al ácido ursodesoxicólico (AUDC). Presentamos el caso de un hombre de 48 años con hepatitis C, genotipo 1b, fibrosis F3, nula respuesta Peg-IFN-α-2b/ribavirina y cólicos nefríticos de repetición. En 2011 desarrolló ictericia, prurito y dolor cólico epigástrico acompañado de aumento sérico de AST, ALT, GGT, bilirrubina y alfafetoproteína, y carga viral (14.600.000 UI/ml). La endoscopia oral, la ecoendoscopia, la angio-TAC y la ecografía-doppler evidenciaron hepatopatía crónica no cirrótica. El cuadro se autolimitó y un año después sufrió un episodio similar. Iniciamos tratamiento con AUDC, con excelente respuesta clínica. El estudio inmunohistoquímico y la secuenciación completa del gen ABCB4 no mostraron alteraciones. La técnica MLPA® detectó deleción heterocigota del exón 4 completo y confirmó la sospecha de síndrome LPAC (AU)

Low-phospholipid-associated cholelithiasis syndrome (LPAC) is associated with ABCB4 genetic mutation. ABCB4 encodes MDR3 protein, involved in biliary phosphatidylcholine excretion. Higher prevalence in women, biliary symptoms in young adults and ursodesoxycholic acid (UDCA) response are the main features. We report the case of a 48-year-old man with hepatitis C, genotype 1b, fibrosis F3, null responder to Peg-IFNα2b/ribavirin and nephritic colic. In 2011 he developed jaundice, pruritus and epigastric pain. He showed increased serum levels of AST, ALT, GGT, bilirubin and alpha-fetoprotein, and viral load (14,600,000IU/mL). Pancreatic- CT, endoscopic ultrasonography and echo-Doppler showed noncirrhotic chronic liver disease. The episode resolved spontaneously and one year later he suffered a similar episode. UDCA was started with excellent response. An immunohistochemistry study and sequencing of ABCB4 did not find alteration. MLPA® technique detected heterozygous deletion of the full exon 4 confirming LPAC (AU)