Laparoscopic hepp couinaud for the treatment of caroli's disease: a case report / Hepp Couinaud laparoscópica para el tratamiento de la enfermedad de Caroli: reporte de caso

Caroli disease is a rare congenital disorder characterized by dilatation of intrahepatic bile ducts. The treatment could correspond to hepatic resection for localized disease. This paper describes a case of Caroli's disease in a 60 years old female patient, who presented jaundice and diffuse abdominal pain. Further examinations suggested the diagnosis of Caroli disease associated with cholestatic syndrome. We decided to perform a Hepp Couinaud biliodigestive bypass by video laparoscopy with Roux-en-Y reconstruction. There were no immediate complications and no longterm complications after 6 months of follow-up. The VLP biliodigestive bypass in patients with associated cholestatic syndromes should be considered a treatment prior to a more aggressive approach.

La enfermedad de Caroli es un raro trastorno congénito que consiste en una dilatación de las vías biliares intrahepáticas. Su tratamiento definitivo debe consistir en resección hepática por la enfermedad localizada. Este artículo describe un caso de enfermedad de Caroli en una paciente de sexo femenino de 60 años de edad, quien presentó ictericia y dolor abdominal difuso. Exámenes posteriores sugirieron el diagnóstico de enfermedad de Caroli asociada con síndrome colestásico. Los médicos decidieron realizar un bypass biliodigestivo de Hepp Couinaud mediante videolaparoscopia con reconstrucción en Y de Roux. No hubo complicaciones inmediatas ni complicaciones a largo plazo después de 6 meses de seguimiento. El bypass biliodigestivo VLP en pacientes con síndromes colestásicos asociados debe considerarse un tratamiento previo a un abordaje más agresivo.

Dilataciones quísticas congénitas de las vías biliares (primera parte). Vías biliares intrahepáticas / Congenital bile duct cystic dilatation (part 1). Intrahepatic bile ducts

RESUMEN La enfermedad de Caroli es una enfermedad infrecuente que requiere un alto índice de sospecha para su diagnóstico. Puede afectar un segmento hepático, un lóbulo o todo el hígado; suele generar episodios repetidos de colangitis. Existe una amplia gama de propuestas terapéuticas que oscilan desde el tratamiento médico hasta el trasplante de hígado. En este trabajo presentamos 3 casos, realizamos una revisión de la literatura y proponemos una ampliación de la clasificación de Alonso-Lej modificada por Todani que, a nuestra manera de ver, tiene implicaciones a la hora de seleccionar un tratamiento.

ABSTRACT Caroli's disease is a rare condition, and its diagnosis requires high level of suspicion. The disease may affect one segment, one lobe or the entire liver, and may result in repeated episodes of cholangitis. The disease can be managed using different therapeutic approaches ranging from medical treatment to liver transplantation. In this paper we report 3 cases with review of the literature and propose a modification of the classification by Alonso-Lej modified by Todani which we believe may be useful to guide treatment.

Enfermedad de Caroli: revisión sistemática de la literatura / Characterization of patients with Caroli's disease: Systematic review

Resumen Introducción: La enfermedad de Caroli es un trastorno congénito poco usual, el cual cursa con dilatación segmentaria multifocal de los conductos biliares intrahepáticos. Fue descrita por Jacques Caroli en 1958 como una dilatación sacular, segmentada o fusiforme de los ductos biliares intrahepáticos. Objetivo: Caracterizar a la población que ha padecido la enfermedad de Caroli. Metodología: Revisión sistemática de la literatura. Resultados: Se analizaron 66 artículos, el grupo de edad más afectado es los menores de 10 años, en el que se evidenció una mayor prevalencia en varones, y se encontró asociado con otras comorbilidades como el riñón poliquístico (20 %). La manifestación más frecuente fue la hepatomegalia (44,7 %), seguido de la fiebre (42,4 %) y el dolor abdominal en el hipocondrio derecho (41,2 %). Como método diagnóstico más utilizado se encontraba la resonancia magnética (73,8 %); dentro de los hallazgos predominó la dilatación intrahepática (76,5 %) y el manejo más empleado fue la antibioticoterapia para tratar las recurrencias por colangitis. Conclusión: La enfermedad de Caroli tiene una baja prevalencia, se presenta con mayor frecuencia en el continente americano, afecta principalmente a la primera década de la vida, tiene predilección por el sexo masculino y se caracteriza por una dilatación de los conductos intrahepáticos que pueden afectar a otros órganos como los riñones, lo que produce quistes renales.

Abstract Caroli's disease (CD) is a rare congenital disease, which presents with multifocal segmental intrahepatic bile duct dilatation. It was first described by Jacques Caroli in 1958 as a saccular or fusiform dilatation of the intrahepatic bile ducts. Objective: To characterize the population that has been diagnosed with Caroli's disease. Materials and methods: Systematic review. Results: 66 articles were analyzed. The age group most affected was children under 10 years old, where a higher prevalence was evidenced in males. This condition was associated with other comorbidities such as polycystic kidney in 20%. The most frequent manifestation was hepatomegaly (44.7%), followed by fever (42.4%), and abdominal pain in the right upper quadrant (41.2%). The most used diagnostic method was magnetic resonance imaging in 73.8% of the sample. The findings showed predominance of intra-hepatic dilatation in 76.5%. The most widely used treatment was antibiotic therapy to treat recurrences due to cholangitis. Conclusion: Caroli's disease has an extremely low incidence and occurs more frequently in the American continent, affecting mainly patients in the first decade of life, with a predilection for the male sex. It is characterized by a dilatation of the intrahepatic ducts that can affect other organs such as the kidneys, causing renal cysts.

Rendimiento diagnóstico de las punciones de lesiones biliopancreáticas guiadas por ultrasonido endoscópico con patólogo en sala / Diagnostic performance of endoscopic ultrasound-guided fine needle aspiration of pancreatobiliary lesions with rapid on-site evaluation

Resumen Introducción y objetivos: El ultrasonido endoscópico con punción-aspiración con aguja fina (USE-PAAF) en lesiones neoplásicas biliopancreáticas suele tener un rendimiento alto, que depende de características de la lesión; aspectos técnicos de la USE-PAAF y la experiencia del endoscopista. De los factores menos estudiados es la presencia de patólogo en sala. Se plantea la realización de USE-PAAF con patólogo en sala para disminuir el número de pases, la tasa de muestras inadecuadas y la necesidad de repetir el procedimiento. Material y métodos: Estudio observacional, retrospectivo, con recolección prospectiva de enero de 2018 a junio de 2019, en pacientes adultos sometidos a USE-PAAF. Las muestras obtenidas fueron extendidas y evaluadas en salas de endoscopia por médico patólogo con coloración Diff-Quick y cuando se obtenía una muestra suficiente se enviaba en frasco con formol para bloque celular o biopsias. Resultados: Se realizaron 48 USE-PAAF biliopancreáticas en individuos con una edad mediana de 64 años. Las indicaciones más frecuentes fueron punciones por masa o pseudomasa pancreática (71 % de casos); Se diagnosticaron 35 malignidades (77 % correspondientes a adenocarcinoma, y 14 % a tumores neuroendocrinos). La mediana de tamaño de lesiones fue de 28 mm; el número de pases promedio fue de 3. Se obtuvieron resultados diagnósticos en 89 % frente a 11 % de falsos negativos. Se presentó 1 complicación menor (2,1 %), que fue dolor abdominal. Conclusiones: La USE-PAAF con patólogo en sala tiene alto rendimiento diagnóstico, con escasos resultados falsos negativos. Se requiere una mediana de pases menor, que podría minimizar los riesgos del procedimiento y la necesidad de repetir la prueba.

Abstract Introduction: Endoscopic ultrasound with fine-needle aspiration (EUS-FNA) of pancreatobiliary neoplastic lesions usually has a high performance that depends on the characteristics of the lesion, technical aspects, and expertise of the endoscopist. One of the least studied factors is rapid on-site evaluation with a pathologist in the room. Objective: To perform EUS-FNA with a pathologist in the endoscopy room to reduce the number of passes, the rate of inadequate samples and the need to repeat the procedure. Material and methods: Observational retrospective study with a prospective data collection approach from January 2018 to June 2019 of adult patients undergoing EUS-FNA. The samples obtained were spread and evaluated in endoscopy rooms by a pathologist with Diff-Quick stain, and when a sufficient sample was obtained, it was sent in a vial with formalin for cell block and/or biopsy. Results: 48 pancreatobiliary EUS-FNA were performed in individuals with a median age of 64 years. The most frequent indication was aspiration due to pancreatic mass (71%); 35 malignancies were diagnosed (77% were adenocarcinomas and 14% were neuroendocrine tumors). The median size of the lesions was 28mm, and the average number of passes was 3. Diagnostic results were obtained in 89% vs. 11% of false negatives. There was 1 minor complication (2.1%), which was abdominal pain. Conclusions: EUS-FNA with an in-room pathologist has a high diagnostic performance, with few false negative results. Also, a lower median number of passes is required, minimizing the risks of the procedure and the need for repeating it.

Enfermedad de Caroli: a propósito de un caso / Carolis disease: report of one case

Resumen La enfermedad de Caroli es una rara patología caracterizada por la existencia de dilataciones saculares segmentarias del árbol biliar intrahepático, que, por lo general, afectan a todo el parénquima hepático, aunque es poco frecuente el compromiso biliar extrahepático. Presentamos el caso de un varón que ingresó con un cuadro clínico de 45 días de evolución, consistente en ictericia colestásica, baja ponderal y prurito. La colangiorresonancia informó múltiples dilataciones saculares en las vías biliares intrahepáticas.

Abstract Caroli disease is a condition characterized by cystic dilatation of the intrahepatic biliary tree that usually affects the entire liver parenchyma, although extrahepatic biliary involvement is rare. The following is the case of a male patient who was admitted due to cholestatic jaundice, low weight, and pruritus for 45 days. Magnetic resonance cholangiopancreatography reported multiple cystic dilatations in the intrahepatic bile ducts.

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report / Doença renal policística autossômica recessiva, shunt esplenorrenal e fibrose hepática congênita em adolescente: relato de caso

ABSTRACT A 16-year-old female patient previously diagnosed with autosomal recessive polycystic kidney disease (ARPKD) presented with acute bilateral pneumonia, upper gastrointestinal bleeding caused by ruptured esophageal varices, ascites, and lower limb edema. She required intensive care and an endoscopic procedure to treat the gastrointestinal bleeding. The analysis of the differential diagnosis for chronic liver disease indicated she had a spontaneous splenorenal shunt. Ultrasound-guided biopsy revealed the patient had cirrhosis, as characteristically seen in individuals with ARPKD. She had no symptoms at discharge and was referred for review for a combined transplant.

RESUMO Relato de caso de uma paciente adolescente de 16 anos de idade com diagnóstico prévio de doença renal policística autossômica recessiva (DRPAR), que apresentou quadro agudo de pneumonia bilateral e hemorragia digestiva alta por ruptura de varizes esofágicas, bem como ascite e edema de membros inferiores. Necessitou de estabilização clínica intensiva e tratamento endoscópico do sangramento digestivo. Após investigação dos diagnósticos diferenciais da hepatopatia crônica, diagnosticou-se shunt esplenorrenal espontâneo, e realizou-se biópsia hepática guiada por ecografia com diagnóstico de cirrose, espectro típico da DRPAR. Recebeu alta hospitalar assintomática e foi encaminhada para avaliação de transplante duplo.

Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review / 北京大学学报(医学版)

This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function. Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive. The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1 (PKHD1) gene, c.9292G>A and c.2507T>C, inherited from each of his parents respectively. The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins, which was possibly unique among Chinese population. The relations between the gene type and the clinical phenotype were not clarified yet. Up till a follow-up eleven months later after the discharge, the patient had a normal hepatorenal function without occurrence of any severe complication yet. The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom. From the above systematic retrospective clinical analysis, as well as the relevant literature review, it's been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive. Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases. Specific to the long-term management of this kind of patients, it's necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.

Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report

Caroli disease is a rare congenital disorder characterized by nonobstructive dilatation of intrahepatic ducts. In cases with symptomatic intrahepatic manifestations, treatment should correspond to the type with hepatic resection for localized disease and transplantation for diffuse forms. If possible, complete resection of the cysts can cure the symptoms and avoid the risk of malignancy. A 66-year-old woman presented to Wuxi Xishan People's Hospital with recurrent intermittent upper quadrant abdominal pain. Further examinations suggested the diagnosis of Caroli disease limited to the left hepatic lobe. She underwent laparoscopic hepatectomy. Pathological examination confirmed the diagnosis of Caroli disease, and no malignancy was found. There were no immediate complications and no long-term complications after one and one-half years of follow-up. Laparoscopic hepatectomy could be a feasible, safe treatment option for localized Caroli disease.

Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones

Caroli disease (CD) is a rare congenital malformation of the liver characterized by non-obstructive, segmental, cystic dilatation of the intrahepatic bile ducts (IHDs). The clinical course is usually asymptomatic for the first 5–20 years, and symptoms may seldom occur throughout the patient’s life. Bile stagnation leads to recurrent episodes of cholangitis, stone formation, or liver abscesses, and biliary cirrhosis usually occurs years later. Here we report on a 42-year-old man diagnosed with diffuse-type CD with a characteristic central dot sign, who had multiple intrahepatic and common bile duct (CBD) stones. CBD stones were treated successfully with endoscopic retrograde cholangiopancreatography (ERCP).

Maladie de Caroli à révélation précoce. A propos d'un cas au service de néonatologie du Centre Hospitalier Abass Ndao de Dakar

Introduction : La maladie de Caroli est une maladie hépato-biliaire d'origine génétique rarement diagnostiquée en pédiatrie. Nous en rapportons un cas observé au service de néonatologie du centre hospitalier Abass Ndao de Dakar. Observation : Il s'agissait d'un nourrisson de 6 mois, de sexe féminin, hospitalisé pour une cholestase évoluant depuis la période néonatale. Une notion de consanguinité était notée chez les parents. L'échographie abdominale et l'IRM ont permis de confirmer le diagnostic de maladie de Caroli en montrant une dilatation kystique des voies biliaires intra-hépatiques. L'évolution a été défavorable chez notre patiente qui est décédée à domicile dans un tableau de sepsis sévère et d'hémorragie.Conclusion : La maladie de Caroli est une des affections à ne pas méconnaître devant une cholestase du nourrisson

Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct

Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiagnosed as an intraductal papillary neoplasm of the bile duct. The asymptomatic patient was treated with liver segmentectomy.

Enfermedad de Caroli: Presentación de un caso / Caroli's Disease: Presentation of a case

La enfermedad de Caroli es una condición congénita poco frecuente, cuya incidencia se estima en 1 caso por millón. Se caracteriza por dilataciones saculares o fusiformes de las vías biliares. Entre las manifestaciones clínicas se encuentran dolor en hipocondrio derecho, fiebre e ictericia, estas crisis de colangitis secundarias a estasis biliar, y sepsis. Su diagnóstico se basa en el hallazgo de lesiones quísticas en árbol biliar, pueden observarse por ecografía, tomografía computarizada. Presentamos a paciente femenino de 37 años, acude a emergencia de Medicina Interna del Hospital Escuela, de la ciudad deTegucigalpa, Honduras, manifestando signos y síntomas de colangitis aguda e ictericia. Al examen físico presenta abdomen globoso y doloroso a expensas de una hepatomegalia marcada. Nuestra paciente presento episodios de colangitis recurrente. La tomografía computarizada revela múltiples espacios quísticos en ambos lóbulos hepáticos y se encontró lesiones quísticas en el árbol biliar. Excluyendo, colangitis esclerosante, quiste hidatídico, quiste del colédoco y dilatación ductal hereditaria, y confirmando la sospecha diagnostica de enfermedad de Caroli.

Caroli disease is a rare congenital condition, which incidence is estimated at 1 case per million. Characterized by saccular or fusiform dilation of the bile. Clinical manifestations include right upper quadrant pain, fever and jaundice, these crisis of cholangitis are secondary to biliary stasis, and sepsis. Diagnosis is based on the discovery of cystic lesions in biliary tree, it may be seen by ultrasound, computed tomography. We present a case of female patient with 37-year-old, who attends to the emergency service of internal medicine of the Hospital Escuela Universitario of the city ofTegucigalpa, Honduras, manifesting signs and symptoms of acute cholangitis and jaundice. Physical examination reveals globose and painful abdomen at the expense of a marked he-patomegaly. Our patient presented episodes of recurrent cholangitis, the computed tomography reveals multiple cystic spaces in both lobes and was found lesions in the biliary tree. Excluding, sclerosing cholangitis, hydatid cyst, bile duct and hereditary ductal dilatation, and confirmed the suspected diagnosis of Caroli's disease.

Doença de Caroli tratada com derivação interna / Carolis disease treated with internal bypass

A doença de Caroli é uma moléstia rara, de apresentação clínica variável, caracterizada por dilatações císticas da árvore biliar. O escopo é relatar o caso de um paciente masculino, 80 anos, internado com icterícia, prurido, dor epigástrica e hepatomegalia. A propedêutica de imagem definiu o acometimento do lobo esquerdo do fígado e da via biliar principal. Após avaliação multidisciplinar, diante das alterações clínicas e laboratoriais do paciente, foi optado pela realização de colédoco-jejuno e hepáticojejuno anastomose em Y de Roux. O pós-operatório transcorreu com melhora clínica e laboratorial; o paciente permanece assintomático após seis meses de acompanhamento. O tratamento proposto pelos autores se mostrou eficiente e não inviabiliza uma ressecção hepática futura.

Carolis desease is a rare illness, has a variable clinical presentation, characterized for expand cystic biliar tract. The goal is report a case of a man, 80 year old, admitted with jaundice, itch, epigastric pain and enlarged liver. Imaging findings showed dilatations in left hepatic lobe and principal biliar tree. After multidisciplinary evaluation, against clinical and laboratorial changes of the patient, have done coledocojejunal and hepaticojejunal anastomosis in Y and Roux. The postoperative course was uneventful and the patient has been six mounths without changes. The treatment proposed for authors were efficient and dont unfeasible a hepatic resection in the future.

Intrahepatic cholangiocarcinoma arising in Caroli's disease

No abstract available.

Hemobilia como forma inusual de presentación en la enfermedad de Caroli / Hemobile as an unusual presentation form of the Caroli´s disease

La enfermedad de Caroli, o ectasia comunicante de las vías biliares intrahepáticas, es una entidad congénita, caracterizada por múltiples dilataciones saculares o quísticas de las vías biliares intrahepáticas. En este trabajo se hace presentación de un nuevo caso portador de enfermedad de Caroli. Se trata de una paciente de raza blanca, de 26 años de edad, con antecedentes de buena salud anterior, que ingresa por fiebre elevada de 39 ºC, hepatomegalia dolorosa e imágenes hipoecoicas en el hígado, detectadas en la ultrasonografia, con aminotransferasas hepáticas ligeramente elevadas. En el segundo ingreso sufre complicaciones febriles y de sangramiento digestivo alto por hemobilia importante, que compromete la hemodinamia y junto a la sepsis dan al traste con su vida. La paciente ingresa por crisis de colangitis y presentó un hemobilia importante que la llevó a complicaciones hemodinámicas, colangitis ascendente, y finalmente a sepsis generalizada como causa de muerte.

Caroli´s disease, or communicant ectasia of the intrahepatic biliary ducts, is a congenital entity, characterized by multiple saccular or cystic dilatations of the intrahepatic biliary ducts. In this work we present a new case of a carrier of Caroli’s disease. It deals with a female patient, aged 26 years, with antecedents of good health status, who entered the hospital with high fever of 39oC, painful hepatomegaly and hyper echoic images in the liver, detected in the ultrasonography, with slightly raised hepatic aminotranferases. During the second staying in the hospital she suffered fever complications and high digestive bleeding caused by important hemobile that compromised the hemodynamics and together with sepsis caused her to die. The patient entered the hospital because of cholangitis and presented an important hemobile leading her to hemodynamic complications, ascendant cholangitis, and finally a generalized sepsis as death cause.

Utilidad de las técnicas de imagen en el diagnóstico de la fibrosis hepática congénita. A propósito de un caso / Usefulness of imaging techniques in the diagnosis of congenital hepatic fibrosis. A case report

La fibrosis hepática congénita (FHC) es una rara entidad congénita multisistémica, incluida en el grupo de las enfermedades fibropoliquísticas, que afecta principalmente al sistema hepatobiliar. Su forma de presentación suele ser poco específica y en ocasiones resulta muy difícil llegar a su correcto diagnóstico. Presentamos el caso de una paciente de 29 años de edad en estudio por hepatomegalia asintomática, aparentemente sin antecedentes clínicos de interés. Si bien el diagnóstico definitivo se realizó mediante una biopsia hepática, los hallazgos obtenidos con las técnicas de imagen pudieron ofrecer una adecuada aproximación al diagnóstico...

Peribiliary cysts developed in normal underlying liver: report of a case

Peribiliary cysts, known as cystic dilatation, of the extramural peribiliary glands of the bile duct are rare, and are usually detectable under conditions of pre-existing hepatobiliary diseases such as liver cirrhosis. Preoperative diagnosis is often difficult, because they are usually asymptomatic. Distinction of peribiliary cysts from premalignant or malignant cystic lesions is mandatory. Herein, we report a case of peribiliary cyst, which was preoperatively assumed as unilobar Caroli's diseases in healthy young patients and briefly discuss the management of the condition.

Stroke after percutaneous transhepatic variceal obliteration of esophageal varix in Caroli syndrome / 소아과

Here we present the case of an 11-year-old female patient diagnosed with Caroli syndrome, who had refractory esophageal varices. The patient had a history of recurrent bleeding from esophageal varices, which was treated with endoscopic variceal ligation thrice over a period of 2 years. However, the bleeding was not controlled. When the patient finally visited the Emergency Department, the hemoglobin level was 4.4 g/dL. Transhepatic intrajugular portosystemic shunt was unsuccessful. Subsequently, the patient underwent percutaneous transhepatic variceal obliteration. Twenty hours after this procedure, the patient complained of aphasia, dizziness, headache, and general weakness. Six hours later, the patient became drowsy and unresponsive to painful stimuli. Lipiodol particles used to embolize the coronary and posterior gastric veins might have passed into the systemic arterial circulation, and they were found to be lodged in the brain, kidney, lung, and stomach. There was no abnormality of the portal vein on portal venography, and blood flow to the azygos vein through the paravertebral and hemiazygos systems was found to drain to the systemic circulation on coronary venography. Contrast echocardiography showed no pulmonary arteriovenous fistula. Symptoms improved with conservative management, and the esophageal varices were found to have improved on esophagogastroduodenoscopy.