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Situs inversus totalis is a rare congenital malformation in which organs are positioned in a mirror-image relationship to normal conditions. It often presents with vascular and biliary malformations. Only a few reports have pointed out the surgical difficulties in patients with situs inversus totalis, especially in those with perihilar cholangiocarcinoma. This report describes a 66-year-old male patient who underwent left hemihepatectomy (S5, 6, 7, and 8) with combined resection of the caudate lobe (S1), extrahepatic bile duct, and regional lymph nodes for perihilar cholangiocarcinoma with situs inversus totalis. Cholangiocarcinoma was mainly located in the perihilar area and progressed extensively into the bile duct. Surgery was performed after careful evaluation of the unusual anatomy. Although several vascular anomalies required delicate manipulation, the procedures were performed without major intraoperative complications. Postoperatively, bile leakage occurred, but the patient recovered with drainage treatment. The patient was discharged on the 29th postoperative day. Adjuvant chemotherapy with S-1 was administered for approximately 6 months. There was no recurrence 15 months postoperatively. Appropriate imaging studies and an understanding of unusual anatomy make surgery safe and provide suitable treatment for patients with situs inversus totalis., (© 2024. Japanese Society of Gastroenterology.)

The two main biliary pathologies in paediatric practice, biliary atresia and choledochal malformations (CM), have their origins within prenatal life. Nevertheless, the actual mechanisms remain elusive with many unanswered questions. The extrahepatic bile duct develops as a funnel-like structure emerging from the foregut from about 3-4 weeks of gestation into the mesenchyme of the septum transversum. The cranial elements of this contain hepatoblasts - the precursors to the two key cell lines that will become hepatocytes and biliary epithelial cells. The intrahepatic bile ducts develop separately and emerge from a complex process involving the ductal plate surrounding the in-growing portal venous system from about the 7-8 th week of gestation. A developmental defect at some point(s) in this process may be the cause of at least some variants of BA - the Biliary Atresia Splenic Malformation syndrome particularly - though evidence in the more common isolated BA is much more circumstantial. Similarly, some types of choledochal malformation, specifically the cystic type of CM, are invariably present during prenatal life although again an actual aetiological mechanism remains elusive., (Copyright © 2022 Elsevier Inc. All rights reserved.)

Intraductal papillary mucinous neoplasm of the bile duct is a rare tumour only recently classified as a distinct pathological entity. These neoplasms, rarely encountered in clinical practice in the UK, are now considered to be important precursors for the development of cholangiocarcinoma. We present a histologically confirmed case of intraductal papillary neoplasm of the bile duct in a male patient and discuss the main radiographic manifestations of this rare condition across multiple imaging modalities, with an emphasis on the imaging features of endoscopic ultrasonography and its role in establishing the diagnosis.

Von Meyenburg complexes, also known as biliary hamartomas, are ductal plate malformations that are usually diagnosed on imaging studies when there are multiple as small hepatic cysts. However, because of variations in histology, they actually have a wide spectrum of imaging appearances ranging from solid, to mixed solid and cystic, to cystic lesions. The objective of the review is to provide up-to-date information about the embryopathogenesis of von Meyenburg complexes, their imaging appearances, diagnostic pitfalls, and clinical significance.

Purpose: To report rare and clinically significant anatomic variations in the biliary drainage of right hepatic lobe., Methods: Unique variations in the extra- and intrahepatic biliary drainage of right hepatic lobe were observed in 6 cadaveric livers during dissection on 100 formalin-fixed en bloc cadaveric livers., Results: There was presence of aberrant drainage of right segmental and sectorial ducts in four cases and of accessory right posterior sectorial duct in two cases., Conclusions: We encountered some extensively complicated biliary drainage of right hepatic lobe, unsuccessful recognition of which can lead to serious biliary complications during hepatobiliary surgeries and biliary interventions.

Cholangiocarcinoma is the second most common hepatobiliary cancer following hepatocellular carcinoma, and 20% to 25% are intrahepatic. We describe 2 cases of intrahepatic cholangiocarcinoma arising within unusual and rare hepatic lesions, fibropolycystic liver disease form of ductal plate malformation and biliary adenofibroma, whose association with malignancy is rarely reported in the literature.

Rationale: The clinical manifestations of VACTERL association include vertebral anomalies, anal atresia, congenital heart diseases, tracheoesophageal fistula, renal dysplasia, and limb abnormalities. The association of intrahepatic anomalies and VACTERL syndrome is a rare coincidence. VACTER syndrome and intrahepatic bile drainage anomalies might be genetically related., Patient Concerns: A 12-year-old girl presented with episodic colicky abdominal pain, nausea, and vomiting for several years. The individual episodes resolved spontaneously within a few days. She had a history of VACTERL syndrome, including a butterfly shape of the L3 vertebra, anal atresia, and an atrial septal defect., Diagnoses: On laboratory findings, abnormal liver function tests included elevated total bilirubin, alanine aminotransferase, aspartate aminotransferase, and gamma-glutamyltransferase. There was no significant abnormal finding in hepatobiliary system sonography except mild gallbladder wall thickening. We performed magnetic resonance cholangiopancreatography and demonstrated an abnormal intrahepatic bile duct confluence, which showed 3 bile ducts draining directly into the neck of the gallbladder., Intervention: Her symptoms related to bile reflux during gallbladder contraction. Cholecystectomy with choledochojejunostomy was undertaken because segments of the bile drainage were intertwined., Outcomes: After surgery, her symptoms decreased, but abdominal discomfort remained due to uncorrected left intrahepatic anomalies., Lessons: Although hepatobiliary anomalies are not included in VACTERL association diagnostic criteria, detailed hepatobiliary work up is needed when gastrointestinal symptoms are present in VACTERL association patients.

We studied the etiological spectrum, clinicolaboratory and histological profile, and outcome of infants and children under 18 years of age presenting between December 2010 and May 2016 with histological evidence of paucity of intralobular bile ducts (PILBD, bile ducts to portal tract ratio < 0.6) Post-transplant PILBD was excluded. Of 632 pediatric liver biopsies screened, 70 had PILBD-44 were infants. PILBD was classified histologically into destructive (n = 50) and non-destructive PILBD (n = 20). Presentations were jaundice (98%), organomegaly (94%), pale stools (50%), and pruritus (43%). Infants had more cholestasis but less fibrosis on histology. Overall, 29 required liver transplantation (LT) for portal hypertension (n = 26), decompensation (n = 25), growth failure (n = 20), intractable pruritus (n = 5), and recurrent cholangitis (n = 2). Destructive PILBD has an odds for poor outcome (decompensation or need for LT within 1 year) of 1.53 (95% CI = 1.15-2.04). On binary logistic regression analysis, poor outcome was related to advanced fibrosis on liver biopsy [Exp (B) = 5.46, 95% CI = 1.56-19.04]., Conclusion: PILBD was present in 11% of pediatric liver biopsies and has a varied etiological spectrum. Destructive PILBD has poor outcome. Need for LT is guided by the presence of advanced fibrosis. What is Known: • Natural history of syndromic ductal paucity (Alagille syndrome) is complex. • Duct loss is commonly seen with late presentation of biliary atresia. What is New: • The study classifies the etiological spectrum of ductal paucity histologically into destructive and non-destructive. • Destructive duct loss carries poor prognosis regardless of the etiology of liver disease with subsequent need for liver transplantation.

An 82-year-old woman who had been suffering from repeated obstructive jaundice for 7 years was referred to our hospital. Although endoscopic aspiration of the mucin in the common bile duct had been temporally effective, origin of the mucin production had not been detectable. The patient thus had been forced to be on long-term follow-up without curative resection. Endoscopic retrograde cholangioscopy on admission revealed massive mucin in the common bile duct. In addition, an anomalous bile duct located proximal to the gallbladder was identified. Since the lumen of the anomalous duct was irregular and the rest of biliary tree was completely free of suspicious lesions, the anomalous duct was judged to be the primary site. Surgical resection of the segment 4 and 5 of the liver combined with the extrahepatic biliary tract was performed. Pathological diagnosis was compatible to intraductal papillary neoplasm with high-grade intraepithelial dysplasia of the anomalous bile duct. The patient has been free from the disease for 6.5 years after resection. This is the first case of intraductal papillary neoplasm derived from an anomalous bile duct, which was resected after long-term conservative treatment. The present case suggested the slow growing character of natural history of the neoplasm.

Background: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case. We believe that we report what could be the first case of Alagille syndrome presenting with café au lait spots, as no such published case report could be found in the literature., Case Presentation: We report an unusual case of childhood cholestatic jaundice with neonatal onset of jaundice. A 10-year-old boy from the Indian subcontinent presented with obstructive jaundice from early infancy. He also had recurrent fractures of his upper limb bones, intermittent bleeding from his nose, productive cough, decreased night vision, hyperpigmented spots over his skin, and progressive enlargement of his abdomen. Histological examination of a liver biopsy specimen revealed a paucity of bile ducts and changes suggestive of chronic liver disease. Our patient was diagnosed with Alagille syndrome and managed conservatively but died 1 year after the final diagnosis., Conclusions: This particular syndromic form of paucity of bile duct disorder has been rarely reported in the Indian literature so far. Our case is notable because the child had café au lait spots and very early onset of chronic liver disease, which is quite rare in Alagille syndrome. We believe this to be the first case report on Alagille syndrome manifesting with café au lait syndrome and such early onset of chronic liver disease.

Objective: To obtain information about the basic biliary anatomy of livers with right-sided ligamentum teres (RSLT)., Summary of Background Data: RSLT is a relatively rare anomaly with a reported incidence of 0.2-1.2%. Although the portal/hepatic venous and arterial anatomy of livers with RSLT has already been established, the biliary architecture of such livers remains unclear., Methods: RSLT was detected in 48 patients during 12,071 consecutive image readings (0.4%). Of these patients, the cholangiograms of 46 patients were analyzed, and their intrahepatic biliary tree confluence patterns were classified., Results: The following four unique biliary confluence patterns were identified in livers with RSLT: the symmetrical type (23/46), independent right lateral type (13/46), total left type (6/46), and total right type (1/46). Analyses of the portal and arterial branching patterns of these livers showed that there were no correlations between their biliary confluence patterns and their portal or arterial ramification patterns., Conclusion: The basic biliary architecture of livers with RSLT was clarified. As the RSLT patients' anomalous biliary confluences differed from those seen in normal livers and were difficult to predict, preoperative cholangiography should be performed prior to complex hepatobiliary surgery involving livers with RSLT to ensure patient safety., (Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.)

The case of a patient with asymptomatic double common bile duct that was identified by chance is presented. A 41-year-old man underwent esophagogastroduodenoscopy(EGD) as part of a regular health checkup, during which he was found to have an elevated lesion in the lesser curvature of the upper gastric corpus with bile draining from its tip. Further examination led to a diagnosis of double common bile duct from the left intrahepatic bile duct to the opening into the stomach. Morphological abnormalities of the biliary tree are commonly encountered in everyday gastroenterological practice, but a double common bile duct with an ectopic opening into the stomach is comparatively rare. It is also associated with an increased risk of developing cancer of the stomach or bile duct, and as such is a biliary abnormality that must be treated with caution. This case is reported together with a discussion of the literature.

A 21-year-old female underwent a Kasai hepatoportoenterostomy with Roux-en-Y reconstruction for typeIII biliary atresia at age 63 days. At the age of 19 years, she developed cholangitis and CT scan revealed hepatolithiasis. She presented for treatment of the intrahepatic stone and the hepatportoenterostomy was directly visualized with double-balloon endoscopy (DBE). Endoscopic findings showed multiple intrahepatic bile ducts open to the jejunum through multiple orifices. Cholangiography showed narrowing of intrahepatic bile duct branches with a "fire-like" appearance. These findings have not been previously reported, since endoscopic approaches to patients with a hepaticojejunostomy were limited. DBE was useful to directly visualize the anastomosis in a patient status-post the Kasai operation for biliary atresia with a Rouxen-Y reconstruction., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Background: The Diagnostic Criteria for Pancreaticobiliary Maljunction 2013 were published by the Japanese Study Group on Pancreaticobiliary Maljunction (JSGPM) in 2014. The committee of JSGPM for diagnostic criteria for pancreaticobiliary maljunction has established the standard diameter of the bile duct, and a definition of dilatation of the bile duct was proposed in 2014., Methods: The committee of JSGPM prepared the diagnostic criteria for congenital biliary dilatation in 2014, and a final revised version was approved in 2015., Results: Congenital biliary dilatation is defined as a congenital malformation involving both local dilatation of the extrahepatic bile duct, including the common bile duct, and pancreaticobiliary maljunction. However, cases associated with intrahepatic bile duct dilatation can also be included. Various kinds of pathological conditions can occur on hepatobiliary systems and pancreas by bile duct dilatation and pancreaticobiliary maljunction. For a diagnosis of congenital biliary dilatation, both abnormal dilatation of the bile duct and pancreaticobiliary maljunction must be evident by either imaging test or anatomical examination. Acquired or secondary dilatation of the bile duct by obstruction due to biliary stones or malignancy should be strictly excluded., Conclusion: Diagnostic criteria for congenital biliary dilatation 2015 were established from Japan representing a world first., (© 2016 Japanese Society of Hepato-Biliary-Pancreatic Surgery.)

Hepatopulmonary syndrome (HPS) is a respiratory complication of hepatic disease, that is well recognized in humans and defined by the presence of 1) liver disease, 2) hypoxemia and/or high alveolar-arterial oxygen gradient (AaDO2) and 3) intrapulmonary vasodilatation. The present report describes a similar case of HPS in a dog. A six-month-old Papillon was diagnosed with ductal plate malformation with chronic active hepatitis and showed progressive increases in AaDO2 over the course of the following six months. The presence of intrapulmonary vasodilatation was confirmed by agitated saline contrast transthoracic echocardiography. Also, the absence of congenital cardiac defect was confirmed by transthoracic echocardiography. From these results, we suspected that this dog had HPS. This is the first description of suspected canine HPS.

Bile duct paucity is the absence or marked reduction in the number of interlobular bile ducts (ILBD) within portal tracts. Its syndromic variant, Alagille syndrome (ALGS), is a multisystem disorder with effects on the liver, cardiovascular system, skeleton, face, and eyes. It is inherited as an autosomal dominant trait due to defects in NOTCH signaling pathway. ALGS is characterized by vanishing ILBD with subsequent chronic obstructive cholestasis in approximately 89% of cases. Cholestasis stimulates formation of new bile ductules through a process of neoductular reaction, making it difficult to evaluate the presence or absence of ILBD. Therefore, finding a method to differentiate clearly between ILBD and the ductular proliferation is essential for accurate diagnosis. A database search identified 28 patients with confirmed diagnosis of ALGS between 1992 and 2014. Additionally, 7 controls were used. A panel of two immunostains, cytokeratin 7 (CK7) and epithelial membrane antigen (EMA), was performed. CK7 highlighted the bile duct epithelium of ILBD and ductular proliferation, while EMA stained only the brush border of ILBD. In our ALGS group, the ratio of EMA-positive ILBD to identified portal tracts was 12.6% (range, 0%-41%). However, this same ratio was 95.0% (range, 90%-100%) among control cases (P < 0.001). We propose a panel of two immunostains, CK7 and EMA, to differentiate ILBD from ductular proliferation in patients with cholestasis. With this panel, identification of bile duct paucity can be achieved. Additional studies, including molecular confirmation and clinical correlation, would provide a definitive diagnosis of ALGS.

Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping., (© 2015 Wiley Periodicals, Inc.)

Abnormalities and variations of the biliary ducts are not rare. Most aberrant bile ducts eventually drain into the descending part of duodenum through the papilla of vater. However, drainage of the left hepatic bile duct into the stomach is extremely rare. A 29-year old man was admitted to the hospital with the diagnosis of biliary reflux gastritis. Comprehensive imaging modalities were performed including electronic endoscopy, endoscopic ultrasonography, endoscopic retrograde cholangiopancreatography and magnetic resonance cholangio-pancreatography. Finally, congenital ectopic left intrahepatic bile duct draining into the stomach was found, which caused biliary reflux gastritis. The patient did not receive any surgery. Good recovery was achieved by medical treatment.