A Case of Combined Congenital Hepatic Fibrosis and Biliary Hamartoma Presented with Recurrent Acute Cholangitis / 대한췌담도학회지

Biliary hamartoma and congenital hepatic fibrosis belong to fibrocystic disorders originating from ductal plate malformation. A 66-year-old man who had incidentally been diagnosed with biliary hamartoma two years ago presented to us with recurrent acute cholangitis. In the first episode, he had presented with septic shock and was treated with endoscopic retrograde cholangiopancreatography (ERCP) and cholecystectomy under the diagnosis of acute cholecystitis and cholangitis. However, during a two-month follow-up period, the patient experienced four episodes of acute cholangitis. Because he showed normal ERCP, and biliary hamartoma is usually asymptomatic, a liver biopsy was performed. Pathology revealed combined features of biliary hamartoma and congenital hepatic fibrosis, characterized as periportal fibrosis and intrahepatic ductular dysplasia. During follow-up for the last six months, he had experienced two episodes of acute cholangitis and was treated with antibiotics. A follow-up abdominal CT scan revealed aggravated hepatosplenomegaly compared to that of two years ago. We report a case of combined congenital hepatic fibrosis and biliary hamartoma and a literature review.

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.

A Case of Congenital Hepatic Fibrosis Presented with Recurrent Acute Cholangitis / 대한소화기학회지

Acute cholangitis usually develops in congenital hepatic fibrosis (CHF), accompanied by cystic dilated bile ducts. However, it can also develop in simple CHF and may lead to critical course. A 30-year old man presented with recurrent acute cholangitis without bile duct dilatation. He visited the hospital for febrile sense and abdominal pain in the right upper quadrant. He had been admitted several times for hepatosplenomegaly and cholangitis since childhood and received a liver biopsy 15 years ago. Abdominal computed tomography (CT) and endoscopic retrograde cholangiopancreatography (ERCP) revealed hepatosplenomegaly and a mildly dilated bile duct without stones or biliary cysts. His condition improved after conservative treatment. However, during a two-month follow up period, the patient experienced three episodes of acute cholangitis. A liver biopsy was performed and showed periportal fibrosis and intrahepatic ductular dysplasia, characteristics of congenital hepatic fibrosis. The periportal fibrosis and the infiltration of inflammatory cells were aggravated compared to 15 years ago. There was no evidence of hepatic cirrhosis. He was diagnosed with congenital hepatic fibrosis with recurrent acute cholangitis without intrahepatic duct dilatation, and conservatively treated with antibiotics.

A Case of Congenital Hepatic Fibrosis in Kabuki Syndrome / 대한소아소화기영양학회지

Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.

Caroli's Syndrome with Autosomal Recessive Polycystic Kidney Disease in a Two Month Old Infant

Caroli's syndrome is a rare congenital disorder that involves intrahepatic bile duct ectasia and congenital hepatic fibrosis, frequently seen with concomitant autosomal recessive polycystic kidney disease (ARPKD). Literature on infants with ARPKD is rare. Here, we present a case of a two month old boy who was diagnosed with Caroli's syndrome and ARPKD.

A Case of Congenital Hepatic Fibrosis Presented with Symptom of Acute Cholangitis / 대한소화기학회지

Congenital hepatic fibrosis (CHF) is an autosomal recessive disease, presenting principally in children or young adults with portal hypertension, and infrequently associated with cholangitis. It is associated with renal malformation and Caroli's disease. The diagnosis of CHF is usually confirmed by its typical histological features. Cholangitis is a severe and frequently fatal complication. We report a 22-year-old man with congenital hepatic fibrosis who showed the cholangitis without radiological features of cystic dilatation or stone of intrahepatic ducts.

A Case of Congenital Hepatic Fibrosis with Variceal Bleeding / 대한소아소화기영양학회지

Congenital hepatic fibrosis is an inherited, congenital disorder of the liver characterized by portal hypertension and hepatic fibrosis. We experienced a case of congenital hepatic fibrosis with esophageal varix in a 9-year-old male. He complained hematemesis, hematochezia, dizziness. In laboratory examination, AST/ALT was slightly increased. Esophageal varix was noted by an endoscopic examination. Hepatosplenomegaly and hypoechoic lesion of periportal area were seen by abdominal CT scanning. Histologic finding of liver biopsy showed fibrous tracts containing dilated bile ductules connecting adjacent portal spaces that were widened by mature fibrosis. Endocopic sclerotherpy and ligation was done. We summarized a case with review of literatures.

A Case of Congenital Hepatic Fibrosis Accompanied by Renal Tubular Ectasia, Caroli Syndrome and Choledochal Cyst

Congenital hepatic fibrosis is a relatively rare disease, characterized by bile ductular proliferation and prominent fibrosis in the portal area of liver resulting in portal hypertension. It is frequently associated with other abnormalities such as polycystic kidney, Caroli syndrome, cystic dysplasia of pancreas, intestinal lymphangiectasia, pulmonary emphysema, hemangioma, and cleft palate. We report here a case of congenital hepatic fibrosis associated with renal tubular ectasia in a 3-year- old girl, whose chief complaint was abdominal distension. Her liver function test did not reveal any abnormal findings. Hepatosplenomegaly and multiple dilated bile ducts were seen in the abdominal CT scaning. Esophageal varix was not detected by an endoscopic examination. Microscopically, diffuse portal fibrosis and widening with proliferation of blie ductules in the liver specimen and tubular ectasia in renal cortex were seen.

Two Cases of Congenital Hepatic Fibrosis with Polycystic Kidney Disease / 대한간학회지

Congenital hepatic fibrosis (CHF) is a rare developemental abnormality, which is characterized pathologically by periportal fibrosis with irregularly shaped proliferating bile ducts. In most, if not all, cases CHF is associated with autosomal recessive polycystic kidney disease. Recently, we experienced two cases, confirmed by percutaneous needle liver biopsy, of CHF with polycystic kidney disease. The first patient was a 19-year-old man and presented with hematemesis and hepatosplenomegaly. Esophageal varix was noted by an endoscopic examination and an endoscopic variceal ligation was performed. Abdominal CT scanning revealed innumerable cysts of both kidneys. The pateint also had cystic dilation of subarchnoid space in the basal cistern and posterior fossa detected through brain MRI. The second patient was a 24-year-old man admitted for an evaluation of splenomegaly. He had no esophageal varix but, splenic varix and splenorenal shunt were detected through an abdominal CT scanning. Innumerable renal cysts were also present. The diagnosis of CHF was confirmed in both cases by its typical histologic features. We report these cases with a review of the relevant literatures.

Diagnosis and treatment of on-cirrhotic portal hypertension / 中国实用内科杂志

Non-cirrhotic portal hypertension(NCPH)is a group of diseases that show evidences of portal hypertension but no cirrhosis is present.Common causes of NCPH include pre-sinusoidal portal lesions such as portal vein thrombosis,congenital liver fibrosis and idiopathic portal hypertension,and post-sinusoidal portal lesions.The major feature of this group of diseases is well preserved liver function in spite of prominent portal hypertensive manifestations such as esophageal varices/gastrointestinal bleeding and splenomegaly/hypersplenism.Careful differentiation from cirrhosis requires thorough clinical,radiological and pathological investigation.Preventing and control of variceal bleeding and hypersplenism through medical,endoscopic and interventional procedures yield good prognosis in most of the patients with NCPH.

A Case of Congenital Hepatic Fibrosis Associated with Polycystic Kidney Disease / 대한소화기내시경학회지

Congenital hepatic fibrosis is a developmental abnormality that may appear either sporadically or in a familial form. It is an inherited disease defined pathologically by bands of fibrous tissue within the liver, and is occasionally associated with cystic kidney disease. A 21-year-old woman was admitted to our hospital for evaluation of pancytopenia. She showed esophageal varices, hepatomegaly and splenomegaly, but had normal results on her liver function test. Peripheral stigmata of chronic liver disease such as palmar erythema or spider angioma was not found. Hepatosplenomegaly, polycystic kidney and psoas muscle cyst were detected through an abdominal CT and MRI. The patient is diagnosis was confirmed as congenital hepatic fibrosis using laparoscopic liver biopsy. The first case of congenital hepatic fibrosis associated with polycystic kidney disease in Korea is herein reported.

Congenital Hepatic Fibrosis with Caroli's Disease

Congenital hepatic fibrosis is an inherited, congenital disorder of the liver, and is occasionally associated with cystic disease of the liver and kidney. We present a case of congenital hepatic fibrosis with Caroli's disease. A 21-year-old woman had suffered from an episodic fever with headaches for 3 years. In laboratory examination, the liver function test was within the normal limits. Esophageal varix was noted by an endoscopic examination. Hepatosplenomegaly and multiple dilated bile ducts were seen by abdominal CT scanning. An orthotopic whole liver transplantation was done. The liver was fibrotic and enlarged. Multiple cystically dilated intrahepatic ducts were noted. Microscopically, diffuse portal fibrosis and widening with proliferation of bile ductules were seen. Intrahepatic bile ducts were markedly dilated and tortuous. The liver cell cords were well preserved.

Two cases of congenital hepatic fibrosis

No abstract available.

Congenital Hepatic Fibrosis: A case report

Congenital hepatic fibrosis is an uncommon disease of children and young adults with two major risks: gastrointestinal hemorrhage caused by portal hypertension, and cholangitis related to bacterial infection of dilated intrahepatic bile ducts. It is characterizeed by stony hard hepatomegaly and portal hypertension with rather well preserved hepatic function and architecture, and frequent association of the renal lesions. We have recently experienced a case of congenital hepatic fibrosis in a 24 year-old Korean male. The chief complaint was hematemesis from esophageal varices. There were marked hepatosplenomegaly, mild pancytopenia and the liver function test was within normal engorgement and dilatation of portal and splenic veins and multiple cysts of both kidneys.