introduction: cholestasis is impairment of normal bile excretion into the duodenum and classified as mechanical and non mechanical cholestasis. mechanical cholestasis presents with increase in bile duct diameter or obstruction in bile duct in an ercp. cholestasis leads to different complications. one of these complications is mucosal peptic erosion leading to gastrointestinal bleeding, perforat...

Arthrogryposis-renal dysfunction-cholestasis syndrome is a rare lethal disorder that involves multipl organ system. It is inherited autosomal recessive and caused by defects in the VPS33B and VIPAR genes. Three cardinal findings of this syndrome are arthrogryposis, renal tubular dysfunction and cholestasis.The other organ involvements including ichthyosis, central nervous system malformation, p...

Total parenteral nutrition (TPN) has become a mainstay of modern neonatal care for the increasing population of premature infants who survive their initial pulmonary disease. As with other advances in neonatal therapy, hyperalimentation has associated complications and limitations, primary among them its toxicity to the liver. The basic pathologic lesion is bile cholestasis which is probably mu...

BACKGROUND The authors have previously described an association between cytomegalovirus (CMV) infection and intrahepatic and extrahepatic forms of neonatal cholestasis. Pediatric use of the antiviral drug ganciclovir to treat patients with CMV infection has increased. In this study, infants with CMV infection and cholestasis were treated with ganciclovir. METHODS Six infants with cholestasis ...

Background and Aim: Neonatal Ichthyosis Sclerosing Cholangitis (NISCH) syndrome is a rare autosomal recessive condition characterized by neonatal Ichthyosis, cholestasis, alopecia sclerosing cholangitis. It has been described in only 20 patients from 11 different families worldwide. To expand the understanding of this as molecularly confirmed case India, we briefly summarize knowledge entity. C...

Intrahepatic cholestasis of pregnancy (ICP) is a pregnancy specific liver disorder characterized by maternal pruritus in the latter half of the pregnancy, raised serum bile acids and increased rates of adverse fetal outcomes. Maternal effects of ICP are mild; however, there is a clear association between ICP and higher frequency of fetal distress, preterm delivery, and sudden intrauterin fetal ...

Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 Although characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction because of intrahepatocyte lipid accumulation. We report a 7-wk-old infant who was admitted w...

objective: although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.method: using panel neonatal screening for detection of metabolic diseases in 650 high risk iranian patie...

Objective Preterm infants receive long-term parenteral nutrition (PN) for gastrointestinal immaturity. This study aimed to determine if mixed lipid emulsions containing fish oil decrease the incidence of PN-associated cholestasis by reducing oxidative stress and providing an anti-inflammatory effect. Methods retrospective cohort enrolled 399 very low birth weight premature (gestational age ≤32 ...

Unexpected severe cholestasis is part of the presentation in some neonates with hemolytic anemia but is usually self-resolving. Here we report the case of a neonate with pyruvate kinase deficiency (PKD) who presented severe hemolytic anemia at birth, characterized by a rapidly progressive and severe cholestasis with normal γ-glutamyl transpeptidase level associated with hepatic failure. After a...