Neonatal Cholestatic Liver Diseases Cholestatic liver disease in children occurs as a result of either an alteration in hepatocyte bile formation or disruption of bile flow out of the hepatocyte through intrahepatic bile ductules or extrahepatic bile ducts [1]. Liver disease usually appears within the first few weeks following birth. A large number of disorders exhibit cholestatic jaundice in n...

OBJECTIVE To review best practices for early recognition and treatment of conditions resulting in neonatal cholestasis, in order to improve long-term outcomes for affected infants. QUALITY OF EVIDENCE Studies, review articles, and meta-analyses pertaining to neonatal-onset cholestasis were sought via electronic databases. Reference lists of studies and review articles supplemented the electro...

UNLABELLED  Background. Diagnosis of progressive familial intrahepatic cholestasis (PFIC) is a challenging matter that involves the summation of clinical, laboratory, radiological, and liver histological parameters; in addition to specific investigations to exclude other causes of neonatal cholestasis. The aim of this study was to evaluate liver tissue immunohistochemistry of bile salt export p...

Neonatal cholestasis is characterized by an elevation of conjugated bilirubin. It occurs in approximately 1 in 2500 term infants. Gaucher Disease (GD) is an exceptionally rare cause of neonatal cholestasis. We report a male term newborn with a blueberry muffin rash, hepatomegaly and massive splenomegaly at birth. His total serum bilirubin (TSB)/direct was 13.5/11.9 mg/dL, and platelet count 20,...

Citrin is a liver-type mitochondrial aspartate-glutamate carrier encoded by the SLC25A13 gene, and its deficiency causes adult-onset type II citrullinemia and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Here, the authors investigated clinical findings in Korean infants with NICCD and performed mutation analysis on the SLC25A13 gene. Of 47 patients with neonatal choles...

A variety of anatomic, infectious, autoimmune, and metabolic diseases can lead to conjugated hyperbilirubinemia, both in the newborn period and later in childhood. The pediatric practitioner is most likely to encounter conjugated hyperbilirubinemia in the neonatal period.It is crucial to maintain a high degree of suspicion for cholestasis in the persistently jaundiced newborn. The goal is recog...

One hundred and three infants with prolonged cholestasis beginning before 3 months were classified as having alpha-1-antitrypsin deficiency (17 patients), scanty interlobular bile ducts (16 patients), or "neonatal hepatitis" (70 patients). Twenty-two gradually developed chronic liver disease and the remaining 81 recovered within a few months. Prognosis was found to be poor for infants with alph...

(Abstracted from Lancet Gastroenterol Hepatol 2021;6:547–558) Ursodeoxycholic acid (UA) is a common treatment for intrahepatic cholestasis of pregnancy (ICP), and its use supported by the Society Maternal-Fetal Medicine. However, evidence benefit UA to fetal neonatal outcomes in this patient population unclear.

Abstract Neonatal thyrotoxicosis is mostly caused by the transplacental passage of maternal thyroid stimulating hormone (TSH) receptor antibodies (TRAb) to fetus. Although rare and transient, this condition may be associated with significant morbidity mortality if not diagnosed treated in an appropriate timely manner. Anti-thyroid drugs are main therapy. Here, we report a preterm newborn that p...

BACKGROUND Congenital hypopituitarism is an uncommon cause of neonatal cholestasis. Little is known about the effect of anterior pituitary hormone on hepatic functions. METHODS A retrospective review of the medical charts of eight infants with congenital hypopituitarism and neonatal cholestasis was performed. The results of endocrinological investigations, eye examinations, and magnetic reson...