Cholangitis complicating congenital hepatic fibrosis

Howlett, Stephen A.; Shulman, Stanford T.; Ayoub, Elía M.; Alexander, Ronald A.; Donnelly, William H.; Cerda, James J.

doi:10.1007/bf01070839

Cited by 7 publications

(4 citation statements)

References 10 publications

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“…Ten patients developed esophageal varices, four patients had live‐threatening gastrointestinal bleeding, and four patients received portosystemic shunts, which is consistent with the diagnosis of congenital hepatic fibrosis [Alvarez et al, 1981; Ghisan and Younoszai, 1981]. Different clinical variants of congenital hepatic fibrosis have been described: a form solely with portal hypertension, a cholangiopathic form, and a mixed portal hypertensive‐cholangiopathic form [Howlett et al, 1975; Perisic, 1995]. The pathogenic basis of the disease seems to be a progressive destructive cholangiopathy, resulting in a fetal type of biliary fibrosis [Desmet, 1992a].…”

Section: Discussionmentioning

confidence: 82%

Early detection of severe cholestatic hepatopathy in COACH syndrome

Foell¹,

August²,

Frosch³

et al. 2002

Am. J. Med. Genet.

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COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Sixteen cases with certain COACH diagnosis have been reported so far. Neurologic abnormalities are the first symptoms in most cases. The majority of cases were diagnosed late in childhood or adolescence. Complications of the hepatopathy contribute extensively to the morbidity and lethality in the course of the disease. Major complications are portal hypertension, esophageal varices, and gastrointestinal bleeding. We report of a child with only mild neurologic symptoms, but severe hepatic fibrosis with cholangiopathy, and review the literature. This is the first description of profound cholestatic hepatopathy in a very young child with COACH syndrome. The patient was found to have cerebellar vermis hypoplasia, unilateral optical nerve coloboma, mild dysmorphic signs, and a ventricular septum defect. Routine laboratory investigations eventually revealed elevated liver enzymes. Prothrombin time was abnormal. Ultrasound scan of the liver was normal. Hepatotropic viral infections were excluded. We performed a liver biopsy at the age of 16 months, confirming an early stage of cirrhosis with septal fibrosis and pseudolobules, inflammatory infiltrates, signs of cholestasis, and reduced numbers of intrahepatic bile ducts. Early detection and differentiation of liver pathology are important in COACH syndrome. Progressive destructive cholangiopathy may contribute to hepatic fibrosis in COACH syndrome. Liver disease can be severe even in cases with mild neurologic deficits.

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Section: Discussionmentioning

confidence: 82%

Early detection of severe cholestatic hepatopathy in COACH syndrome

Foell¹,

August²,

Frosch³

et al. 2002

Am. J. Med. Genet.

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“…Previously, Howlett et al [9] reported the case of a 5-month-old girl with story of unknown fever and hepatosplenomegaly. Liver biopsy showed CHF with acute suppurative cholangitis.…”

Section: Review Of Literaturementioning

confidence: 99%

Congenital Hepatic Fibrosis as a Cause of Recurrent Cholangitis: A Case Report and Review of the Literature

Palomba

Maggioni

Viero

et al. 2021

Livers

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Rare liver diseases caused by ductal plate malformation, such as congenital hepatic fibrosis (CHF), Caroli syndrome, and polycystic liver disease, can have clinical manifestations such as recurrent cholangitis—frequently involving multidrug-resistant microorganisms—leading to difficulties in selecting the optimal antimicrobial treatment. Without prompt recognition, these infections severely hamper the patient’s quality of life and can develop into life-threatening complications. We report here the case of a 50-year-old woman with a history of recurring cholangitis with occasional systemic involvement leading to bloodstream infection, who ultimately received a diagnosis of CHF and was put on chronic suppressive antibiotic therapy while on the waiting list for a liver transplant. We also reviewed the literature collecting cases of recurrent infections occurring in patients with ductal plate malformation.

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“…The culture of the specimen was sterile. kidney; and acute cholangitis secondary to bacterial infection of the dilated intrahepatic bile ducts (3,4,6).…”

Section: Case Reportmentioning

confidence: 99%

“…Increased erythrocyte sedimentation rate, hypergammaglobulinemia, and his-Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disease of children and young adults which is characterized by peculiar histological lesions of the liver and by kidney abnormalities, such as renal tubular ectasias or .. infantile" polycystic kidney disease (l ,2). Acute bacterial infection of dysplastic intra-or, less frequently, .extrahepatic bile ducts is one of the main complications of CHF (3,4). We now report the case of a boy .afflicted with CHF who developed severe hypoxemia due to pulmonary arteriovenous fistulas 7 years after a portocaval shunt.…”

mentioning

confidence: 95%

Pulmonary Arteriovenous Fistulas

Maggiore,

Borgna‐Pignatti,

Marni

et al. 1983

J. pediatr. gastroenterol. nutr.

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A 16‐year‐old boy with congenital hepatic fibrosis, on whom a portocaval anastomosis was performed because of bleeding esophageal varices, developed lip cyanosis, exertional dyspnea, and clubbing of the fingers 7 years postoperatively. This progressive syndrome was caused by a right‐to‐left shunt due to the presence of pulmonary arteriovenous fistulas. Increased erythrocyte sedimentation rate, hypergammaglobulinemia, and histological features of cholangitis were also present. It is proposed that this unusual pulmonary complication of congenital hepatic fibrosis could be due either to congenital pulmonary abnormalities or to a chronic unrecognized cholangitis causing a progressive deterioration of liver histology and function, with subsequent opening of pulmonary arteriovenous shunts.

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Cholangitis complicating congenital hepatic fibrosis

Cited by 7 publications

References 10 publications

Early detection of severe cholestatic hepatopathy in COACH syndrome

Early detection of severe cholestatic hepatopathy in COACH syndrome

Congenital Hepatic Fibrosis as a Cause of Recurrent Cholangitis: A Case Report and Review of the Literature

Pulmonary Arteriovenous Fistulas

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