BACKGROUND Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lower limb. LCS was originally described in a Norwegian kindred in which a locus, LCS1, was mapped to a 6.6cM region on chromosome 15. Mutati...

Intrahepatic cholestasis represents a heterogeneous group of disorders that begin during childhood, most commonly manifesting as neonatal cholestasis, and lead to ongoing liver dysfunction in children and adults. For children, inherited pathogenic factors of cholestasis have gained increasing attention owing to the rapid development of molecular biology technology. However, these methods have t...

Obstetric cholestasis is a liver disease of pregnancy that can be complicated by sudden, hitherto unexplained, intra-uterine fetal death. Because intra-uterine death occurs suddenly, and because fetal heart rate abnormalities have been reported in obstetric cholestasis, we hypothesized that intra-uterine death is caused by impaired fetal cardiomyocyte function, resulting in fetal cardiac arrest...

AIM To compare the histologic features of the liver in intrahepatic neonatal cholestasis (IHNC) with infectious, genetic-endocrine-metabolic, and idiopathic etiologies. METHODS Liver biopsies from 86 infants with IHNC were evaluated. The inclusion criteria consisted of jaundice beginning at 3 mo of age and a hepatic biopsy during the 1st year of life. The following histologic features were ev...

INTRODUCTION We wished to determine whether cholestasis induced by total parenteral nutrition (TPN) in preterm newborn infants is associated with increased oxidative stress secondary to increased reactive oxygen intermediates. We hypothesized that elevated urinary thiobarbituric-acid-reacting substances (TBARS), a marker of oxidative stress, would be associated with hepatocellular injury as mea...

This report draws attention to the alpha 1 antitrypsin deficiency in newborns presented as a cholestatic syndrome. Its sub-diagnosis constitutes a major constraint for recognition and appropriate treatment. Good outcomes occur in approximately 50% of patients. It is associated in most cases, to extra and intra-hepatic involvement and the absence of clinical signs that indicate its diagnosis. Th...

Three infants who presented with clinical features of neonatal cholestasis and clinically suspected to have biliary atresia were found on imaging studies and surgery to have extrahepatic bile duct atresia in association with choledochal cyst. All patients were treated by bilio-enteric bypass procedure. Post operatively jaundice cleared in only two patients. The prognosis of this association dep...

Besides the transient bilirubin transport immaturity, preterm infants are particularly at risk for different forms and degrees of bile formation impairment because of metabolic demands that are not matched by functional maturation in the first weeks of life. Cholestasis, affecting approximately 1 of 2 500 infants, is more commonly reported in preterm infants with an incidence varying between 10...

Introduction Early diagnosis of biliary atresia is very important for better outcome of treatment. Ultrasonography is one of the diagnostic tools for early differentiation of biliary atresia from other causes of neonatal cholestasis. It has been reported that triangular cord sign (TACS) in sonography is a reliable sign for diagnosis of biliary atresia. The aim of this study was to re-assess the...