1/5. The role of liver transplantation in patients with Caroli's disease.Caroli's disease, characterized by segmental or diffuse dilation of the intrahepatic biliary ducts, is a rare disease which is difficult to treat. The course of the disorder is characterized by recurrent episodes of cholangitis and hospital stays, with a consequent loss of quality-of-life and productive capacity, often ending in death due to uncontrolled infection. Endoscopic drainage of the bile duct, percutaneously or surgically, is palliative, and presents bad results in the follow-up of these patients. Orthotopic liver transplantation appears to be an effective curative option for the treatment of patients with Caroli's disease associated to complications. The authors present the course of two cases of this disease, associated with congenital fibrosis of the liver worsened by repeated episodes of cholangitis, submitted to orthotopic liver transplantation.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/5. Fatal liver infarction after transjugular intrahepatic portosystemic shunt procedure.Hepatic infarction is a rare disease. We describe here a cirrhotic patient with end-stage renal failure and recurrent tense ascites with fatal hepatic infarction after transjugular intrahepatic portosystemic shunt (TIPS) procedure. Abdominal ultrasound, radionuclide liver scan, abdominal computed tomography scan, and finally liver biopsy established the diagnosis. The mechanism causing the infarct is not clear. However, as the infarct appeared after the patient had an episode of shock and disseminated intravascular coagulation, it could well be that the concomitant hepatic arterial insufficiency contributed to the infarct. physicians should be aware of this possible catastrophic complication.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/5. Three cases of congenital hepatic fibrosis with Caroli's disease in three siblings.Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement. We experienced 3 cases of congenital hepatic fibrosis with Caroli's disease in 3 siblings, whose clinical manifestations were diverse, such as repeated cholangitis, variceal hemorrhage, or intrahepatic stones. All of them had multiple renal cysts, so we supposed that the clinical entities of these patients were in the spectrum of fibropolycystic disease of the liver and kidney.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/5. Computerized tomography in the diagnosis of congenital hepatic fibrosis.A case of congenital hepatic fibrosis (CHF), a relatively rare disease, was diagnosed preoperatively on the basis of clinical and radiological findings. The diagnosis was confirmed by computerized tomography and later proven by a liver biopsy performed during cholecystectomy. Increased awareness of this entity may reveal heretofore unidentified cases of CHF.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/5. Proteinaceous (angiocentric sclerosing) lymphadenopathy: a polyclonal systemic, nonamyloid deposition disorder.Proteinaceous lymphadenopathy with hypergammaglobulinemia (PLWH) is an exceedingly rare disease of unknown etiology. Described primarily as a pathologic entity, relatively little is known about its clinical manifestations or its response to therapy. The disease is often referred to and treated as an unusual form of plasma cell dyscrasia or light chain deposition disease. We have recently encountered a young patient with PLWH who presented with generalized lymphadenopathy, marked liver function abnormalities, hypocomplementemia, cryoglobulinemia, decreased T4/T8 ratio, and ophthalmopathy. Contrary to the notion that PLWH is a clonal disorder, we found no evidence of clonality in this patient. The most characteristic finding in this and in another patient, previously seen at our institution, was marked angiocentric hyaline sclerosis of the small and mid-sized blood vessels of involved lymph nodes and organs. Based on these findings, we propose the term angiocentric sclerosing lymphadenopathy, which more accurately defines this clinicopathologic entity that appears to be distinct from light chain deposition disease and other plasma cell dyscrasias.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |