Congenital Abnormalities of Liver, Bilary Tree and Pancreas

Definition of cholestasis

Reduced bile flow due to impaired hepatocyte secretion or duct obstruction; elevated conjugated bilirubin.

Abnormal direct bilirubin amount (Cholestasis)

1 mg/dL is abnormal

Neonatal cholestasis major categories

Obstructive (biliary atresia, choledochal cysts), infectious (TORCH, CMV, HSV), metabolic/genetic (A1AT deficiency, galactosemia, CF), PN‑associated liver disease.

Most common causes of neonatal cholestasis

Biliary atresia (25%), idiopathic neonatal hepatitis (25%), infections (11%).

Biliary atresia definition

Destructive inflammatory obliteration of intra‑ and extrahepatic bile ducts in infancy → progressive fibrosis and cholestasis.

Biliary atresia clinical features

Acholic stools, dark urine, jaundice, hepatosplenomegaly, elevated GGT/AST/ALT, poor growth, fat‑soluble vitamin deficiency, hyperbilirubinemia

Biliary atresia ultrasound findings

Absent or small gallbladder; triangular cord sign; no ductal dilation.

Biliary atresia HIDA scan

Good hepatic uptake but no bowel excretion at 24 hours; pretreat with phenobarbital to reduce false positives.

Biliary atresia biopsy findings

Portal fibrosis, bile duct proliferation, bile plugs.

Biliary atresia treatment

Kasai hepatoportoenterostomy (HPE) + fat‑soluble vitamin supplementation; eventual liver transplant common.

Choledochal cyst definition

Cystic dilation of biliary tree; risk of cholangiocarcinoma.

Annular Pancreas embryology

Annular pancreas wraps around duodenum leadign to obstructive symptoms of duodenum

Annular pancreas pathogenesis

Failure of ventral bud rotation or regression → pancreatic ring encircling duodenum.

Annular pancreas presentation

Vomiting, duodenal obstruction, peptic ulceration, pancreatitis, abdominal pain; may be asymptomatic; associated with Down syndrome, duodenal atresia, Meckel’s.

Annular pancreas diagnosis

Double bubble sign, barium study showing narrowing, CT/MRCP. (Annular pancreas=pancreas wraps around and compresses the duodenum)

Annular pancreas treatment

Duodenoduodenostomy (children) or duodenojejunostomy (adults).

Pancreas divisum definition

Failure of dorsal + ventral pancreatic duct fusion. Usually asymptomatic; may cause recurrent pancreatitis; diagnosed by MRCP/ERCP.

Common channel syndrome (pancreatic duct)

Abnormal long common channel of bile + pancreatic ducts; associated with pancreatitis and choledochal cysts; diagnosed/treated with ERCP.