Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report.

Caroli's syndrome is a congenital disease characterized by dilation of intrahepatic bile ducts and congenital hepatic fibrosis. It is a rare condition in clinical work. Typically, the diagnosis of this disease is confirmed through medical imaging. Here, we report a case of atypical Caroli's syndrome in a patient who presented with recurrent upper gastrointestinal tract bleeding. The patient underwent imaging examinations, liver biopsy and whole exome sequencing. The results of the imaging examination were non-specific. However, with the aid of pathological examination, the patient was diagnosed with Caroli's syndrome. In conclusion, for cases where the imaging presentation of Caroli's syndrome is inconclusive, an accurate diagnosis should rely on pathology. By discussing this specific case, our aim is to enhance readers' understanding of this disease, provide valuable information that can aid in the early detection and appropriate management of Caroli's syndrome, ultimately improving patient outcomes.

A Unique Case of Caroli Disease in Kenya's Medical Landscape.

BACKGROUND If a young patient presents with fever, abdominal pain, jaundice and significant imaging abnormalities, especially dilation of the biliary system, it is usually due to obstruction from stones or strictures. However, on very rare occasions, it can be due to complications of congenital cystic dilatation of the biliary system, known as Caroli disease. We present such a patient and discuss the differential diagnosis and implications for long-term management. CASE REPORT A 14-year-old boy presented to the Emergency Department with a sudden onset of high-grade fever and abdominal pain for 2 weeks, accompanied by vomiting of blood. The patient had no relevant medical history. He was malnourished and had moderate pallor, jaundice, and right upper quadrant pain. Imaging revealed cystic dilatation of intrahepatic ducts and a central dot sign. There were no features suggesting advanced liver disease otherwise, and no tumors or cysts in the kidneys. A diagnosis of Caroli disease was made. The symptoms were ascribed to acute cholangitis and improved with antibiotics. He was discharged home 1 week later. No further blood loss was observed. CONCLUSIONS This case study describes a patient with ascending cholangitis, a complication of Caroli disease. This diagnosis should be considered in the differential diagnosis when a child or young adult presents with features of cholangitis, abnormal biliary imaging, and/or upper gastrointestinal bleeding, or portal hypertension. No prior cases of this disease have been encountered, documented, or published in Kenya. This case can increase awareness among primary care clinicians, including pediatricians.

Caroli disease combined with Banti syndrome in a woman: a case report.

Caroli disease is a rare congenital malformation that predisposes to segmental cystic dilatation of the intrahepatic bile ducts. Banti syndrome is characterized by persistent splenomegaly due to chronic congestion, resulting in a low hematocrit and ultimately leading to pancytopenia. In this report, we describe a 29-year-old woman who presented with a >20-year history of hepatitis B surface antigen positivity and a >1-year history of recurrent fatigue and malaise. On examination, the patient had abdominal distension with marked splenomegaly (7 cm below the ribs) and ascites with tenderness of the abdominal muscles to palpation. A complete blood count showed a low white blood cell count, red blood cell count, and hemoglobin concentration. During the course of treatment, the patient developed multiple symptoms of pancytopenia and concomitant splenomegaly, and she was discharged after total splenectomy with good recovery. The combination of Banti syndrome and Caroli disease results in severe symptoms of portal hypertension.

Caroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report.

RATIONAL: The disease of Caroli is a rare congenital disorder, characterized by the dilated intrahepatic bile ducts, resulting from mutations in the PKHD1 gene. Caroli syndrome, characterized by dilated intrahepatic bile ducts with congenital hepatic fibrosis, is linked to autosomal recessive polycystic kidney disease. The clinical manifestations of Caroli disease are not typical, and Caroli disease is easy to be missed and misdiagnosed. Therefore, we reported this case in the hope of raising awareness of the disease among clinicians. PATIENT CONCERNS: The clinical manifestation of a 10-year-old girl was subcutaneous hemorrhage. DIAGNOSES: Magnetic resonance imaging (MRI ) indicates that the person may have Caroli disease, cirrhosis, splenomegaly, portal hypertension, esophagogastric fundal varices, or sponge kidneys. INTERVENTION: The patient was advised for liver transplantation. OUTCOMES: The patient parents did not take our treatment advice, and they asked to go to a better hospital for further treatment, so we did not give the patient any treatment. LESSONS: This case serves as a reminder that if we encounter a patient with hemophilia in our clinic, we should not only consider hematologic diseases and cirrhosis, but also perform an epigastric MRI and magnetic resonance cholangiopancreatography to rule out Caroli disease.

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

Autosomal recessive polycystic kidney disease (ARPKD) is the rare and usually early-onset form of polycystic kidney disease with a typical clinical presentation of enlarged cystic kidneys and liver involvement with congenital hepatic fibrosis or Caroli syndrome. ARPKD remains a clinical challenge in pediatrics, frequently requiring continuous and long-term multidisciplinary treatment. In this review, we aim to give an overview over clinical aspects of ARPKD and recent developments in our understanding of disease progression, risk patterns, and treatment of ARPKD.

[Caroli disease: optimizing the choice of surgical strategy using 3D modeling, 3D printing and therapy]. / Bolezn' Karoli: optimizatsiya vybora khirurgicheskoi taktiki s ispol'zovaniem 3D-modelirovaniya, 3D-pechati i terapii.

A patient with Caroli disease is described. The authors used 3D modeling and 3D printing when choosing surgical strategy. Advisability of 1.5% meglumine sodium succinate 500 ml IV once a day (courses for 5 and 8 days) is justified. Thanks to antihypoxic mechanism, this drug reduced intoxication syndrome and length of hospital-stay, as well as improved quality of life.

Caroli syndrome associated with atrial septal defect and polydactyly: a case report.

INTRODUCTION: Caroli disease is multifocal segmental dilatation of the large intrahepatic bile ducts that connect to the main duct. It is considered a rare disease with an incidence rate of 1 in 1,000,000 births. There are two types of Caroli: the first type is the simple type, Caroli disease, which includes only cystic dilatation of the intrahepatic bile ducts. The second is called Caroli syndrome, which consists of Caroli disease and congenital hepatic fibrosis and might lead to portal hypertension leading to esophageal varices and splenomegaly. Atrial septal defect is one of the most common congenital heart diseases, occurring when the connection between the left and the right atriums fails to close. Polydactyly is one of the most common congenital malformations of the hands and feet. It manifests in excess fingers on the hands or toes. CASE PRESENTATION: A 6-year-old Arab girl presented to the hospital with abdominal pain for the last month with abdominal enlargement. The patient was already diagnosed with Caroli disease and polydactyly (six fingers on each limb) when she was born. Investigations including complete blood count, blood smear, bone marrow biopsy, esophagoscopy, abdominal ultrasound, and computed tomography scan showed splenomegaly associated with hypersplenism, fourth-grade non-bleeding varices, intrahepatic cystic formations in the left and right lobes, and an atrial septal defect with a left-to-right shunt. The patient was scheduled for a splenectomy after she was vaccinated with the appropriate vaccines. After follow-up for a week in the hospital, complete blood count showed an improvement. A month after that, the patient had liver abscesses and biliary fistula that were treated appropriately and her symptoms resolved. CONCLUSION: The association of liver diseases, polydactyly, and congenital heart diseases is extremely rare and was only documented few times in the literature. However, to our knowledge, atrial septal defect has never been part of this combination before. The family history also makes this case unique and strongly suggests genetic etiology.

Liver transplantation for biliary cysts: perioperative and long-term outcomes.

BACKGROUND: Biliary cysts (BC) is a rare indication for orthotopic liver transplantation (OLT). METHODS: We queried the UNOS dataset to identify patients who underwent OLT for Caroli's disease (CD) and choledochal cysts (CC). All patients with BC (CD + CC) were compared to a cohort of patients transplanted for other indications. Patients with CC were also compared to those with CD. Cox proportional hazard model was performed to assess predictors of graft and patient survival. RESULTS: 261 patients underwent OLT for BC. Patients with BC had better pre-operative liver function compared to those transplanted for other indications. 5-year graft and patient survival were 72% and 81%, respectively, similar to those transplanted for other indications after matching. Patients with CC were younger and had increased preoperative cholestasis compared to those with CD. Donor age, race, and gender were predictors of poor graft and patient survival in patients transplanted for CC. CONCLUSIONS: Patients with BC have similar outcomes to those transplanted for other indications and more frequently require MELD score exception. In patients transplanted for choledochal cysts, female gender, donor age, and African-American race were independent predictors of poor survival. Pediatric patients transplanted for Caroli's disease had better survival compared to adults.

Right hepatectomy with a cholangiojejunostomy and hepaticojejunostomy for unilobar Caroli's syndrome.

Caroli...s syndrome is a rare entity. It is characterized by multi-cystic dilatation of intrahepatic bile ducts with congenital hepatic fibrosis. Here we describe a 43-year-old female with unilobar Carolis syndrome presented recurrent episodes of cholangitis. She subsequently had a right hepatectomy and complex bilio-enteric anastomoses which included a cholangiojejunostomy. This case illustrates a safe and novel surgical strategy employed to manage a patient with unilobar Caroli...s syndrome.

[Robotic Left Hepatectomy Using the Glissonean Pedicle Approach for the Treatment of Caroli's Syndrome]. / Roboter-assistierte Hemihepatektomie links mittels Glissonean pedicle approach bei Caroli Syndrom.

BACKGROUND: Caroli's syndrome is a rare disease characterised by non-obstructive dilation of intrahepatic bile ducts, hepatic fibrosis, and an increased risk of developing cholangiocarcinoma. Minimally invasive liver resection has recently been increasingly adopted for the treatment of patients with localised Caroli's syndrome. However, robot-assisted liver resection for the treatment of Caroli's syndrome has not been published. MATERIALS AND METHODS: We report a case of a 72-year-old Asian female who was referred to our hospital with multifocal cystic dilation of liver segments II, III, and IV. She had no family history of congenital cysts. Her past medical history was uneventful except for an open appendectomy. The liver function tests were normal, with a negative echinococcus serology test. On MRI, the biliary anatomy at the hilum and right liver appeared to be regular. Therefore, a robotic left hepatectomy was carried out for the unilobar involvement of Caroli's syndrome using the Da Vinci Xi-system. RESULTS: We performed a Glissonean pedicle approach while preserving the caudate lobe. After removing surgical adhesions from the anterior abdominal wall using robotic scissors, a routine cholecystectomy was performed. An aberrant left hepatic artery arising from the left gastric artery was clipped and divided. The left portal pedicle was controlled after lowering the hilar plate. The ischemic demarcation line on the liver surface was followed after clamping the left pedicle, and parenchymal dissection was performed using Maryland bipolar forceps. A Pringle manoeuvre was not applied. The left pedicle and the left hepatic vein were transected using a GIA stapling device while the middle hepatic vein was preserved. Indocyanin green fluorescence imaging confirmed adequate perfusion of the remnant liver tissue including the caudate lobe. The specimen was placed in an extraction bag and removed via a Pfannenstiel incision. The total operation time was 239 min, including a total blood loss of 100 ml. The postoperative course was uneventful. The patient was discharged on postoperative day 5. On 6 months follow-up, the patient had normal liver function and no signs of recurrent disease. CONCLUSION: Robotic left hepatectomy using an extrahepatic Glissonean pedicle approach is technically feasible.

An update on ductal plate malformations and fibropolycystic diseases of the liver.

A variety of cystic and fibrocystic lesions can occur in the liver, which may be single or multiple and etiologically can be acquired or have genetic underpinnings. Although the morphology of ductal plate development and various associated malformations has been well described, the genetic etiologies of many of these disorders are still poorly understood. Multiple clinical phenotypes in the liver are proposed to originate from ductal plate malformations: congenital hepatic fibrosis, Caroli's disease, Von Meyenburg complex, and the liver cysts of autosomal dominant polycystic kidney and liver diseases. Although many of the patients with these disorders, particularly with isolated liver involvement remain asymptomatic, some develop portal hypertension or symptoms from cyst enlargement. Development of hepatocellular malignancy is a risk in a small subset. Recent advances have made it now possible for some of these phenotypes to be genetically defined, and intriguingly animal models of adult polycystic liver disease suggest that abnormal organ development is not required. This review describes the current understanding, genetic underpinning, and key clinicopathologic and imaging features of these fibropolycystic liver diseases.

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.

[Introduction to the recommendations from the European Association for the Study of the Liver clinical practice guidelines on the management of cystic liver disease].

The diagnosis of cystic liver disease has made great progress with the advent of enhanced imaging techniques. At the same time, its management has gradually improved over the past few decades, providing the basis for the development of appropriate diagnostic and treatment guidelines. To this end, the European Association for the Study of the Liver has developed clinical guidelines for the diagnosis and treatment of non-infectious cystic liver disease. This guideline put forward recommendations based on an in-depth review of the relevant literature for addressing clinical issues, including the diagnosis and treament of hepatic cysts, hepatic mucocystic tumors, biliary hamartomas, polycystic liver disease, Caroli disease or Caroli syndrome, biliary hamartomas, and peribiliary cyst.

[A case of Caroli's disease associated with intrahepatic cholangiocarcinoma].

A 65-year-old male with Caroli's disease had a fast rise in serum CA19-9 level during follow-up. Contrast-enhanced computed tomography (CT) revealed an irregular mass with a 3cm diameter, showing ring-like and delayed improvement in segment 8 of the liver. Gadolinium ethoxybenzyl diethylenetriamine penta-acetic acid-enhanced magnetic resonance imaging (MRI) demonstrated a mass with the hypointense signal on T1-weighted images, mildly hyperintense signal on T2-weighted images, and hypointense signal in the hepatobiliary phase. Positron emission tomography/CT revealed the absorption of (18) F-fluorodeoxyglucose in the hepatic mass and a nodule in the anterior mediastinum. The patient was diagnosed with intrahepatic cholangiocarcinoma and supraclavicular lymph node metastasis and had partial hepatectomy and lymph node dissection. Caroli's disease is an uncommon congenital condition with myriad small cystic dilatations of the peripheral intrahepatic bile duct as the primary lesion. The disease is not only often associated with recurrent cholangitis and hepatolithiasis but is also a high-risk group of intrahepatic cholangiocarcinoma. Caroli's disease requires regular screening for intrahepatic cholangiocarcinoma utilizing suitable imaging modalities, such as CT and MRI, as well as tumor marker testing.

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.

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

BACKGROUND: Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations. When congenital hepatic fibrosis is associated with the polycystic dilatation of the biliary tract, the condition is referred as Caroli syndrome. The disease is thought to be caused by pathogenic variants in the PKHD1 gene (OMIM *606702). METHOD: We report the clinical, biochemical, and molecular characterization of three patients with a clinical suspicion of CS belonging to two different families. The genetic screening was performed using a target custom panel and sequencing was performed on Illumina platform. RESULTS: Genetic analysis revealed the presence of rare variants in the PKHD1 gene of the analyzed patients. In the first case, and his younger sister, two pathogenic variants (c.2702A>C and c.4870C>T) were found to be associated with a hepatic phenotype at clinical onset, followed by renal disease probably age-related; while in the second case, one pathogenic variant (c.5879C>G) and a complex allele with uncertain clinical significance [c.3407A>G; c.8345G>C; c.8606C>A] were found to be associated with a severe hepatic phenotype. CONCLUSION: The identification of the genetic causes of the disease and their relationship with the clinical phenotype could have a favorable impact on clinical management and complication prevention.