BACKGROUND Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperp...

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...

We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia. Urine metabolic screen showed the presence of urinary-reducing sugars, and she was treated with a lactose-free formula. NICCD was suspected based on th...

Prolonged neonatal jaundice is defined as a jaundice lasting more than 14 days of life in the full-term infants [1,2]. Etiologically it is helpful to distinguish jaundice related to unconjugated (indirect) or conjugated (direct) hyperbilirubinemia. A prolonged unconjugated hyperbilirubinemia may be related to breastfeeding or to some pathological conditions as hemolytic diseases (due to Rh or A...

Optic nerve hypoplasia with hypopituitarism and intact septum pellucidum is a variant of septo-optic dysplasia or deMorsier's syndrome.' Although neonatal jaundice has been seen with this syndrome, the association with severe prolonged cholestatic jaundice has not been emphasised. We describe three patients who presented with cholestatic jaundice and were found to have optic nerve hypoplasia an...

Neonatal Lupus Erythematosus (NLE) is an uncommon condition manifesting with congenital complete heart block and occasionally other manifestations like hepatitis. Neonatal Lupus with severe cholestasis with positive anti SS-A/Ro and anti SS-B/La antinuclear antibodies in the mother and child is being reported.

Background Chronic liver diseases (CLD) in children represent a growing health problem with significant morbidity and mortality. This study aimed to define the clinicopathological pattern of pediatric CLD in Sohag University Hospital, Sohag,Upper Egypt. Materials and Methods A total of 151children with CLD were included in a prospective hospital-based study from June 2014 to May 2018. Cases of...

Intrahepatic cholestasis of pregnancy (ICP) represents a rare but severe pathology with serious consequences on the outcome of pregnancy. We present the cases of two sisters that came to our clinic with ICP in successive pregnancies. The fetus from a pregnancy with cholestasis can be affected by preterm birth, respiratory distress syndrome, intrauterine death in the third trimester and a possib...