BACKGROUND: A biliary inflammatory myofibroblastic tumor (IMT) is a rare type of mesenchymoma that, although it has a broad age spectrum, usually occurs in adults. Diagnosis is difficult because biliary IMTs often exhibit nonspecific clinical symptoms and imaging features, resulting in delayed or inappropriate treatment. Although most IMTs are benign, some show malignant properties such as infiltration, recurrence, and metastasis.
METHODS: Here, we retrospectively describe a 10-month-old infant who was admitted to our hospital due to stubborn jaundice. The patient responded poorly to routine medical treatment and his clinical manifestations and laboratory tests lacked specificity, so we turned to repeated ultrasound scans and other imaging examinations. As both hepatosplenic ultrasonography and diffusion-weighted magnetic resonance imaging demonstrated a space-occupying lesion, an exploratory laparotomy was performed. The final diagnosis made over two mo after the disease onset was infant biliary cirrhosis caused by a biliary IMT, which partially infiltrated into the liver. This infant is the youngest case of biliary IMTs that has been reported till now. The patient underwent an incomplete resection of the mass and Kasai Portoenterostomy. However, because of cirrhosis, he also received a paternal liver transplant. Since some IMTs show malignant properties, we proceeded with a three-year of follow-up; however, no recurrence or metastasis has been noted.
CONCLUSIONS: Neoplastic disease such as IMTs should be considered when routine medical treatment of obstructive jaundice is not successful. Observation of dynamic imaging changes is helpful for diagnosis. Periodic follow-up is necessary for IMTs.

BACKGROUND: Despite being a benign disease, hepatolithiasis has a poor prognosis because of its intractable nature and frequent recurrence. Nonsurgical treatment is associated with high incidences of residual and recurrent stones. Consequently, surgery via hepatic lobectomy or segmental hepatectomy has become the main treatment modality. Clinical management and resolution of complicated hepatolithiasis with bilateral or diffuse intrahepatic stones remain very difficult and challenging. Repeated cholangitis and calculous obstruction may result in secondary biliary cirrhosis, a limiting factor in the treatment of hepatolithiasis.
METHODS: A 53-year-old woman with a 5-year history of intermittent abdominal pain and fever was admitted to the hepatopancreatobiliary surgery department following worsening symptoms over a 3-d period. Blood tests revealed elevated transaminases, alkaline phosphatase, γ-glutamyl transpeptidase, and total bilirubin, as well as anemia. Magnetic resonance cholangiopancreatography showed dilatation of the intrahepatic, left and right hepatic, common hepatic, and common bile ducts, and multiple short T2 signals in the intrahepatic and common bile ducts. Abdominal computed tomography showed splenomegaly and splenic varices. The diagnosis was bilateral hepatolithiasis and choledocholithiasis with cholangitis. Surgical treatment included hepatectomy of segments II and III, cholangioplasty, left hepaticolithotomy, second biliary duct exploration, choledocholithotomy, T-tube drainage, and accretion lysis. Surgical and pathological findings confirmed secondary biliary cirrhosis. Liver-protective therapy and anti-infectives were administered. The patient developed liver and respiratory failure, severe abdominal infection, and septicemia. Eventually, her family elected to discontinue treatment.
CONCLUSIONS: Liver transplantation, rather than hepatectomy, might be a treatment option for complicated bilateral hepatolithiasis with secondary liver cirrhosis.

Background: Ciliopathies are rare diseases causing renal and extrarenal manifestations. Here, we report the case of a ciliopathy induced by a homozygous pathogenic variant in the TTC21B gene. Case Description: A 47-year-old patient started hemodialysis for chronic kidney disease (CKD) of unknown origin. She presented with early onset of hypertension, pre-eclampsia, myopia and cirrhosis. Renal biopsy showed mild interstitial fibrosis, tubular atrophy, and moderate arteriosclerosis while liver pathology demonstrates grade B biliary cirrhosis. Family history revealed several cases of early-onset severe hypertension and one case of end-stage renal disease (ESRD) needing kidney transplantation at twenty years of age. Clinical exome sequencing showed homozygosis for the pathogenic variant c.626C>T (p.Pro209Leu) in the TTC21B gene. The patient underwent combined liver-renal transplantation with an excellent renal and hepatic graft outcome. Conclusions: TTC21B gene mutations can lead heterogeneous to clinical manifestations and represent an underappreciated cause of ESRD. The paradigm in diagnosis of CKD of early onset and/or of unknown origin is changing and genetic counseling should be performed in all patients and families that meet those criteria. Renal or combined liver-renal transplantation represents the best option for patients suffering from those diseases in terms of prognosis and quality of life.

BACKGROUND: Langerhans cell histiocytosis (LCH) is an abnormal accumulation of Langerhans cells in various organs that sometimes induces organ dysfunction. LCH can affect the liver, resulting in sclerosing cholangitis and biliary cirrhosis. However, liver and bile duct involvement is usually observed in the disseminated form of LCH. We herein report a rare case of LCH localized only in the extrahepatic bile duct that resulted in severe liver cirrhosis.
METHODS: A 3-year-old boy with elevated liver enzymes, obstructive jaundice, and dilation of the common bile duct was referred to our institution. Contrast-enhanced computed tomography showed atrophy of the right hepatic lobe, relative hypertrophy of the left hepatic lobe, choledocholiths, and biliary debris extensively with biliary duct dilation. Magnetic resonance cholangiopancreatography revealed dilation of the intrahepatic and extrahepatic bile ducts and multiple choleliths in the gallbladder and common bile duct. Laparoscopic cholecystectomy, intraoperative cholangiography, liver biopsy, and gastrointestinal fiberscopy were performed. A liver specimen showed severe biliary cirrhosis due to sclerosing cholangitis. The patient then underwent living-donor liver transplantation because of severe liver cirrhosis 3 months after the first surgery. The common bile duct was not suitable for duct-to-duct anastomosis and was resected because of severe inflammation. Histologic sections of the common bile duct showed histiocytic cell proliferation. Immunohistochemistry revealed histiocytoses that were positive for Langerin, S-100 protein, and CD1a. However, no histiocytic cell proliferation was noted in the liver tissue. The definitive diagnosis was LCH localized to the extrahepatic bile duct. LCH in the extrahepatic bile duct seemed to cause sclerosing cholangitis. The patient was discharged uneventfully 2 months after living-donor liver transplantation.
CONCLUSIONS: LCH localized to the extrahepatic bile duct is extremely rare; however, LCH can still affect the extrahepatic bile ducts on occasion. LCH should be considered as a differential diagnosis if pediatric patients show the presence of sclerosing cholangitis.

Hepatic pseudolymphoma is a very rare benign reactive lymphoid hyperplasia associated with autoimmunity and chronic inflammatory liver diseases such as primary biliary cirrhosis and may mimic hepatocellular carcinoma. This diagnosis should be suspected in female with a suspicious single tumor. Close monitoring is needed in view of its premalignant nature.