Caroli's disease incidentally discovered in a 16-years-old female: a case report.

Caroli´s disease is a congenital hepatic disorder characterized by nonobstructive saccular or fusiform dilatation of the intrahepatic bile ducts with the absence of congenital hepatic fibrosis. Caroli´s disease is rare, with few reported cases in the literature, making it hard to distinguish from other liver abnormalities. We present a case of Caroli´s disease discovered indecently in a 16-year-old female who presented with recurrent abdominal pain and intermittent jaundice in the last three years. Abdominal Computed tomography (CT) showed mild liver enlargement with multiple cystic dilatations of the intrahepatic saccular bile ducts cystic dilatations without hepatic fibrosis. The patient was treated conservatively with ursodeoxycholic acid and antibiotic therapy and discharged with regular follow-up. In conclusion, Caroli´s disease should be considered in the differential diagnosis in patients with recurrent abdominal pain and cholangitis without risk factors or relevant history.

Haemostatic radiation therapy for a bleeding intraductal papillary neoplasm of the biliary tree.

Haemostatic radiation was effectively used as a novel rescue therapy in a 60-year-old man who presented with recurrent melaena refractory to all conventional medical and surgical measures. He needed multiple transfusions and was diagnosed to be bleeding from an intraductal papillary biliary neoplasm which was not amenable to surgical resection in view of the background liver disease. He received conventional radiation therapy (RT) of a dose of 3 Gy per fraction for 3 consecutive days after which he stabilised. After cessation of the RT, he did not require transfusion for the next 2 months. His quality of life improved and it gave us time to evaluate for other definitive measures.

Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.

We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign. Hepatobiliary system abnormalities such as Caroli's disease should be considered in febrile ADPKD patients, even in the absence of typical clinical signs or symptoms.

Caroli's syndrome with autosomal recessive polycystic kidney disease.

Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management.

Rare cystic liver lesions: a diagnostic and managing challenge.

Cystic formations within the liver are a frequent finding among populations. Besides the common cystic lesions, like simple liver cysts, rare cystic liver lesions like cystadenocarcinoma should also be considered in the differential diagnosis. Thorough knowledge of each entity's nature and course are key elements to successful treatment. Detailed search in PubMed, Cochrane Database, and international published literature regarding rare cystic liver lesions was carried out. In our research are included not only primary rare lesions like cystadenoma, hydatid cyst, and polycystic liver disease, but also secondary ones like metastasis from gastrointestinal stromal tumors lesions. Up-to date knowledge regarding diagnosis and management of rare cystic liver lesions is provided. A diagnostic and therapeutic algorithm is also proposed. The need for a multidisciplinary approach by a team including radiologists and surgeons familiar with liver cystic entities, diagnostic tools, and treatment modalities is stressed. Patients with cystic liver lesions must be carefully evaluated by a multidisciplinary team, in order to receive the most appropriate treatment, since many cystic liver lesions have a malignant potential and evolution.

Abernethy malformation with multiple aneurysms: incidentally found in an adult woman with Caroli's disease.

Abernethy malformation is a rare anomaly with partial or complete congenital absence of the portal vein and subsequent development of extrahepatic portocaval shunts. We present the case of a 28-year-old woman who was incidentally diagnosed with type II Abernethy malformation and multiple aneurysms during an investigation for nonspecific abdominal pain and fever. The patient had been diagnosed with Caroli's disease at the age of 10 and liver cirrhosis, portal hypertension a few years before. To the best of our knowledge, this is the first case reported with all such congenital anomalies associated together. Ultrasound, computed tomography, including three-dimensional reconstruction, and magnetic resonance imaging were performed which revealed a side-to-side shunt between the extrahepatic portal vein and the inferior vena cava, multiple aneurismal cystic dilation of the spleen artery and left renal artery, and extensive intrahepatic bile duct cysitic dilation with calculus formation. Etiology, clinical significance and management strategies with regard to these abnormalities are discussed.

Fibropolycystic disease of the liver and kidney in Oman.

BACKGROUND AND STUDY AIMS: Fibropolycystic disease of liver and kidney (FPCDLK) is an uncommon group of conditions inherited in an autosomal fashion. The group encompasses autosomal dominant polycystic disease of the kidney (ADPDK), autosomal recessive polycystic disease of the kidney (ARPDK), congenital hepatic fibrosis (CHF) and Caroli's disease (CD). There are limited data of this disease in the world. We report our experience in the Royal Hospital (RH) in Oman and data regarding long-term follow-up. The aim of the study was to document the frequency of encounter, clinical presentation and outcome of FPCDLK in Division of Child Health in RH, Muscat. PATIENTS AND METHODS: Charts of patients diagnosed with ARPDK, ADPDK, CHF and CD were reviewed from the period of 16 February 2006 till 31 December 2011. Parameters including anthropometry, liver function tests, renal function tests, presence of oesophageal varices, hypersplenism, renal or liver transplantation and performance of porto-systemic shunt surgeries were all investigated. RESULTS: A total of 33 patients were identified, including 19 males and 14 females. The frequency of encounter of FPCDLK in RH was 1.5/1,000,000 population. The mean age of patients was 7.4years. The mean age at diagnosis was 27months. The mean duration of follow-up was 5.5years. A total of 31% of patients had an incidental finding of hepatomegaly, and 25% were detected by antenatal screening. Three children presented with renal failure, and 13 children in total had renal function abnormalities by the end of the study period. One child presented with haematemesis at the age of 1year. Two children underwent renal transplant and one child required splenectomy with a splenorenal shunt. A total of 54% had endoscopic variceal screen and two required banding on first endoscopy. The demise of one patient was observed during the study. CONCLUSION: FPCDLK is uncommon in Oman but carries major mortality and morbidity for the patient and family. The gene is present in the Gulf countries. Management is mainly through portal hypertension and renal supportive care until definitive dual organ transplant. This disease needs to be further investigated in the Arab world.

[Caroli's syndrome in a patient on hemodialysis: diagnostic and therapeutic difficulties]. / Sindrome di Caroli in paziente emodializzato: difficoltà diagnostiche e terapeutiche.

We present the case of a 65-year-old male patient without any family history of renal or hepatic disease. He had been on maintenance hemodialysis for 4 months because of autosomal recessive polycystic kidney disease. At the start of the hemodialysis session he reported general malaise, abdominal pain, fever and diarrhea occurring in the last two days. Laboratory workup showed neutrophilic leukocytosis and increased serum amylase and C-reactive protein. Abdominal contrast-enhanced CT scan and MRI cholangiography showed hepatic cysts with marked dilatation of the intra- and extrahepatic bile ducts. The patient underwent cholecystectomy with hepaticojejunal Rouxen- Y anastomosis and was discharged with oral ciprofloxacin. Histology confirmed marked cystic dilatation of the bile ducts. Because of persistent episodes of septic fever, administration of ciprofloxacin was continued. After 4 months retrograde endoscopic pancreatography was performed which led to a diagnosis of Caroli's syndrome associated with polycystic kidneys. Given the rarity of the disease and its difficult diagnosis, when patients with polycystic kidneys and liver cysts experience recurrent episodes of septic fever of unknown origin, Caroli's disease should be taken into account and the appropriate tests should be carried out to confirm the diagnosis.

Síndrome de Caroli: relato de caso clínico / Caroli´s syndrome: clinical case report

Objetivo: apresentar caso clínico de paciente internada em um hospital em Belém do Pará, no qual foi diagnosticado Síndrome de Caroli e sua evolução após terapêutica adequada. Relato do Caso: paciente do sexo feminino, 37 anos, com quadro de hemorragia digestiva alta volumosa, internada de urgência em hospital de grande porte. Ao exame apresentava-se desidratada, descorada, com distensão abdominal e hepatoesplenomegalia. À endoscopia digestiva detectaram-se varizes esofagianas com sangramento ativo, as quais foram submetidas à escleroterapia. A investigação hospitalar posterior constatou hepatopatia crônica e dilatações saculares das vias biliares intra-hepáticas, com fibrose hepática difusa, consolidando-se o diagnóstico de Síndrome de Caroli. A paciente atualmente está em seguimento ambulatórial, aguardando realização de transplante hepático. Considerações finais: o caso de Síndrome de Caroli estudado ratifica a importância da doença como diagnóstico diferencial em pacientes que apresentam quadro clínico compatível com síndrome de hipertensão portal e colangite, com necessidade de diagnóstico precoce devido ao risco caracteristicamente aumentado de colangiocarcinoma, sendo muitas vezes o transplante hepático a melhor opção terapêutica.

Objective: to report the clinical case of a patient admitted to a hospital in Belem, which was diagnosed Caroli's syndrome, and her evolution after appropriate therapy. Case report: A female patient, 37 years old with a massive upper gastrointestinal bleeding was referred for emergency admission in a large hospital. She was referred for gastrointestinal endoscopy, detecting active bleeding from esophageal varices, which were submitted to sclerotherapy. The subsequent investigation confirmed chronic liver disease and diffuse saccular dilatation of intrahepatic bile ducts with diffuse hepatic fibrosis, consolidating the diagnosis of Caroli`s Syndrome. Currently, the patient is in follow up, awaiting liver transplantation. Final considerations: the study of this Caroli's syndrome case confirms the importance of this disease as a differential diagnosis in patients presenting with clinical syndromecompatible with portal hypertension and cholangitis, requiring early diagnosis due to increased risk of cholangiocarcinoma, and often the liver transplant is the best treatment option.

Successful liver transplantation in a child with Caroli's disease.

CD is a rare autosomal recessive disease, characterized by multifocal cystic dilatation of intrahepatic bile ducts. The course of the disease is characterized by intrahepatic cholelithiasis, recurrent episodes of cholangitis, because of cholelithiasis, hepatic abscesses often ending in death caused by uncontrolled infection. Other conditions such as choledochal cyst and renal cystic disease are frequently associated, and patients have a higher risk for the development of cholangiocarcinoma. Endoscopic drainage of the bile duct is palliative and ineffective. OLT appears to be the treatment of choice. In monolobar cases partial liver resection has been shown to be a curative therapeutic option. We report on the course of disease in a Turkish girl who was diagnosed with CD in the neonatal period. At the age of 8.2 yr, she received OLT and is in good health 57 months post-transplantation.

[Caroli's disease, case report and review of the literature]. / Sjúkdómur Carolis--sjúkratilfelli og yfirlit fraedigreina.

In 1958 Caroli described a rare disease with multifocal, segmental and saccular dilation of the large intrahepatic bile ducts which causes stagnation of bile and formation of bile sludge and stones. This results in recurrent abdominal pain, cholangitis and hepatic abscesses. The diagnosis is confirmed with endoscopic retrograde cholangiopancreatography (ERCP) and percutaneous transhepatic cholangiography (PTC) and the purpose of treatment is to restore normal bile flow. Partial resection of the liver has given good results in patient with localized disease. The prognosis is poor despite drainage of bile and 46% of patients die from sepsis, hepatic abscesses, hepatic failure or portal hypertension. There is more than a hundred fold risk of cholangiocarcinoma. We report a case where a male who had a history of recurrent bouts of abdominal pain and pancreatitis was diagnosed with Caroli's disease. He later developed cholangiocarcinoma. Caroli's disease has not, to our knowledge, been reported in Iceland before.

Caroli's disease: identification and treatment strategy.

Caroli's disease is a rare congenital disease of the liver characterized by cystic dilation of the intrahepatic bile duct. Classic Caroli's disease involves malformations of the biliary tract alone, whereas Caroli's syndrome refers to the presence of associated congenital hepatic fibrosis. Caroli's disease usually presents during childhood and early adulthood. The clinical features of Caroli's disease include jaundice, right upper abdominal pain, and fever due to the associated complications of hepatolithiasis or bacterial cholangitis. Endoscopic or percutaneous cholangiography is the traditional method of diagnosis, but magnetic resonance cholangiopancreatography is emerging as the diagnostic modality of choice. The treatment for Caroli's disease includes supportive care with antibiotics for cholangitis and ursodeoxycholic acid for hepatolithiasis. Surgical resection has been used successfully in patients with monolobar disease. For patients with diffuse involvement, the treatment of choice is orthotopic liver transplantation.

Clinical characteristics of Caroli's syndrome.

Caroli's syndrome is characterized by multiple segmental cystic or saccular dilatations of intrahepatic bile ducts associated with congenital hepatic fibrosis. The clinical features of this syndrome reflect both the characteristics of congenital hepatic fibrosis such as portal hypertension and that of Caroli's disease named as recurrent cholangitis and cholelithiasis. The diagnosis depends on both histology and imaging methods which can show the communication between the sacculi and the bile ducts. Treatment consists of symptomatic treatment of cholangitis attacks by antibiotics, some endoscopic, radiological and surgical drainage procedures and surgery. Liver transplantation seems the ultimate treatment for this disease. Prognosis is fairly good unless recurrent cholangitis and renal failure develops.

Caroli's syndrome and adult polycystic kidney disease.

Caroli's disease is a cystic disease of the liver, which has been rarely associated with adult onset polycystic kidney disease. Three cases have been reported in the English Medline search. The presentation of this fourth case discusses the issues surrounding the treatment of Caroli's disease in the setting of a renal transplant.

The place of liver transplantation in Caroli's disease and syndrome.

Caroli's disease (CD) or syndrome (CS) are rare inherited disorders which may cause severe, life-threatening, cholangitis or which may lead to hepatobiliary degeneration. The typical cystic biliary anomalies are often associated to congenital hepatic fibrosis (CHF) and, less frequently, to cystic renal disease especially autosomic recessive polycystic kidney disease (ARPKD). The place of liver transplantation (LT) in the treatment of CD or CS is evaluated based on our own experience of three successfully transplanted patients, the literature review of 19 patients and the European experience with 110 patients collected in the European Liver Transplant Registry. LT should be proposed as a definitive therapeutic option once severe cholangitis or (suspicion of) malignant transformation is present. The frequently used radiological, endoscopical or surgical biliary drainage procedures carry a high morbidity and mortality rate. In case of concomitant symptomatic CHF and renal failure, combined or sequential hepatorenal transplantation should be carried out, dependent on the evolution of the hepatic and renal disease. In case of associated ARPKD, renal transplantation is often indicated early on because of the more rapid progression of the renal component of the disease.

Enfermedad de Caroli / Caroli Disease

Antecedentes: La Enfermedad de Caroli es una patología congénita caracterizada por dilataciones saculares multifocales de la vía biliar con litiasis secundaria. Aunque puede evolucionar asintomática por años, sus manifestaciones más frecuentes son dolor, ictericia obstructiva y colangitis. El objetivo de este trabajo es presentar una serie de 26 enfermos tratados por esta patología. Material y Métodos: Se revisaron en forma retrospectiva las fichas clínicas de los pacientes tratados entre 1983 y 2001 por Enfermedad de Caroli, registrándose características clínicas, exámenes diagnósticos y resultados de la terapia ofrecida. Resultados: la serie estuvo constituida por 26 pacientes, con promedio de edad de 47,9 años (rango: 24-71). Las manifestaciones más frecuentes fueron la ictericia obstructiva en 14 pacientes y el dolor en hipocondrio derecho en 10. En todos los pacientes se practicó ecografía, en 25 (96 por ciento) se detectó dilatación segmentaria de la vía biliar y/o litiasis intrahepática. El compromiso fue de árbol biliar izquierdo en 16, del derecho en 4 bilateral en 6. Se efectuaron resecciones hepáticas en 20 pacientes (en todos los casos de compromiso unilateral y 4 de los con compromisos bilateral), observándose complicaciones quirúrgicas en cuatro de ellos (20 por ciento). Dos pacientes no se resecaron, practicándose una colodocoduodenostomía y una papilotomía endoscópica. El examen patológico confirmó el diagnóstico en todas las resecciones hepáticas. Se logró seguimiento en 23 pacientes (88 por ciento) por 5,5 años promedio. Dos pacientes han fallecido, uno por insuficiencia renal crónica y hepática asociada a compromiso bilateral del hígado y el otro por una causa no relacionada. Seis pacientes operados han presentado colangitis aguda, ellos se habían sometido a resecciones hepáticas parciales por enfermedad bilateral o a derivaciones biliodigestivas. Ningún paciente ha presentado evidencias de colangiocarcinoma. Conclusión: La serie presentada tiene características clínicas similares a las observadas en otras experiencias de Enfermedad de Caroli. La ecografía es un examen con buen rendimiento para el diagnóstico inicial de esta enfermedad. El tratamiento quirúrgico ha sido efectivo en pacientes con compromiso hepático unilateral. Los resultados en la enfermedad difusa plantean desafíos y puede incluir la incorporación del transplante hepático en el manejo de esta patología.

[Caroli's disease]. / Carolijeva bolest--prikaz bolesnika.

Caroli's disease is a rare condition characterized by congenital polycystic dilatation of the intrahepatic bile ducts. The most frequent clinical presentation of a simple type (Caroli's disease) is recurrent cholangitis, gallstone with pain, obstructive jaundice and episodes of pancreatitis in childhood and early adulthood. A more frequent type combined with congenital hepatic fibrosis is usually manifested with bleeding from esophageal varices consequential to portal hypertension. Treatment options, both conservative and surgical, are relatively limited and depend on the clinical presentation, localization of cysts in the liver, and stage of the disease. A 20-year-old man with Caroli's disease manifested with cholelithiasis and choledocholithiasis with recurrent pancreatitis at the age of 16 is presented. The diagnosis was confirmed by endoscopic retrograde cholangiopancreatography and magnetic resonance cholangiopancreatography. Treatment with ursodeoxycholic acid was initiated and after two years of follow-up the disease is stable.

Regression of antenatally diagnosed localized Caroli's disease.

The authors report on an infant who had a multiloculated cystic lesion located in segment IV of the liver, consistent with Caroli's disease diagnosed, by routine prenatal ultrasound at 25 weeks' gestation, and confirmed by hepatobiliary HIDA scan and computed tomography soon after birth. Because there was no sign of biliary obstruction, the patient was observed initially, with gradual regression of the cysts noted by serial sonograms. Caroli's disease in older children and adults often is associated with recurrent cholangitis and cirrhosis, mandating resection when the disease is unilobar. However, the natural history of Caroli's disease diagnosed in utero is unclear, and a period of observation appears warranted in the asymptomatic patient.

Caroli syndrome.

We describe a case of Caroli syndrome (Caroli's disease and congenital hepatic fibrosis) in a 10-year-old boy with bilobar involvement and numerous renal cysts. Liver transplantation offers the only hope for such patients.