RATIONALE Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolon...

Pruritus is frequently reported by patients with cholestatic hepatobiliary diseases such as primary biliary cirrhosis, primary sclerosing cholangitis, intrahepatic cholestasis of pregnancy and hereditary cholestatic syndromes, but may accompany almost any other liver disease. Increased concentrations of bile salts, histamine, progesterone metabolites or endogenous opioids have been controversia...

INTRODUCTION Intra-hepatic cholestasis arising from biliary strictures is a frequent complication in pediatric patients after liver transplantation. Minimally invasive procedures such as percutaneous drainage placement and balloon dilation are the preferred diagnostic and therapeutic modalities. CASE PRESENTATION We report the case of a 12-month-old Caucasian boy with biliary atresia who was ...

Summerskill-Walshe-Tygstrup syndrome is a rare benign chronic liver disease characterized by recurring cholestasis with jaundice and severe pruritus. Due to insufficient conservative treatment, liver dialysis by Prometheus(®) was applied to a 45-year-old female patient with resistant pruritus. Initially, other possible liver diseases were excluded and the patient was treated symptomatically sin...

CONTEXT Liver damage is relatively common in patients affected by HL, but paraneoplastic cholestasis is an uncommon presenting symptom in HL. CASE REPORT We report the case of a 38-year-old man who came to our hospital with jaundice, pruritis, nausea, vomiting, weight loss, and recurrent episodes of fever without any hepatosplenomegaly or lymphadenopathy. Laboratory findings showed abnormal l...

BACKGROUND Mutations in ATP8B1 (FIC1) underlie cases of cholestatic disease, ranging from chronic and progressive (progressive familial intrahepatic cholestasis) to intermittent (benign recurrent intrahepatic cholestasis). The ATP8B1-deficient mouse serves as an animal model of human ATP8B1 deficiency. METHODOLOGY/PRINCIPAL FINDINGS We investigated the effect of genetic background on phenotyp...

Lipoprotein-X (Lp-X) is an abnormal low-density lipoprotein frequently found in liver disease. It is regarded as the most sensitive and specific biochemical parameter for the diagnosis of intra- and extrahepatic cholestasis. Moreover, Lp-X is supposed to contribute to the development of hypercholesterolemia in cholestatic liver disease, because it fails to inhibit de novo cholesterol synthesis....

This study aims to analyse the risk factors affecting prognosis of cholestasis in newborns. A four-year prospective cohort study was carried out. Neonates with cholestasis were enrolled. The diagnosis of neonatal cholestasis was based on jaundice in the newborn period, direct bilirubin > 2 mg/dl, discoloured stool and elevated liver enzymes. Liver function tests were consecutively monitored wee...

We report a case of secondary sclerosing cholangitis that manifested itself during pregnancy. A tentative diagnosis of intrahepatic cholestasis of pregnancy was considered, but after her third delivery, a liver biopsy and imaging, as well as review of past records, confirmed the diagnosis of secondary sclerosing cholangitis. Maternal and fetal outcomes of primary sclerosis cholangitis have been...

after liver transplantation.3 We therefore did not perform a hysterectomy for the menorrhagia. The patient's negative family history and the donor's negative history negate a genetic basis for cholestasis associated with pregnancy or sex hormones. Rejection of a transplant and cyclosporin, however, can induce low grade cholestasis. Oestrogen may have elicited such an underlying defect much as i...