When cholestatic liver disease is present, liver ultrasound should be performed to ascertain if cholestasis is extrahepatic or intrahepatic. If bile ducts appear dilated and the probability of interventional treatment is high, endoscopic retrograde cholagio-pancreatography (ERCP) or trans-hepatic cholangiography (THC) should be the next step. If the probability of interventional therapeutics is...

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic py...

Objective: To report the mutational landscape of a clinically diagnosed cohort paediatric patients with cholestasis liver diseases. Method: The retrospective study was conducted at University Child Health Sciences, Children Hospital, Lahore, Pakistan, from December 10, 2021, to March 31, 2022, and comprised data collected Paediatric Gastroenterology Hepatology unit on demographics, clinical lab...

During a period of three years from 1996 to 1998, 124 infants (64 male and 60 female) with an age range of 1-6 months (mean age 1.5 months) with cholestasis were studied. Idiopathic neonatal hepatitis was the most common cause of cholestasis, accounting for 48 cases with a rate of 3'8.70% in a total of 124 patients, followed by galactosemia in 29 patients (23.38%) and extrahepatic biliary ...

Background: Outcome of infantile intrahepatic cholestasis is highly variable. Aim to investigate various factors affecting outcome of infantile cholestasis. Methods: Retrospective study was conducted through data collection of 70 infant’s files who presented with intrahepatic cholestasis. They were divided into two groups according to the fate of jaundice at the end of the first year follow up....

A 4-week-old infant presented with a coagulation disorder resulting from a vitamin K deficiency. The vitamin K deficiency was caused by neonatal cholestasis due to biliary atresia. Jaundice, hepatomegaly and pale stools are the predominant presenting symptoms of biliary atresia, none of which were recognized in our patient before admission. However, the patient presented with bleeding caused by...