Neonatal Conjugated Hyperbilirubinemia - MedG

👶 Welcome to Our Review on Neonatal Conjugated Hyperbilirubinemia!

This lecture covers high-yield neonatal conditions associated with conjugated hyperbilirubinemia. It’s designed for medical students, pediatric residents, and healthcare professionals preparing for exams or clinical practice.

We’ll explore key conditions like Dubin-Johnson Syndrome, Rotor Syndrome, Alagille Syndrome, Biliary Atresia, and Biliary Cysts — with focus on presentations, labs, imaging, management, and must-know pearls.

Dubin-Johnson Syndrome (DJS)

Age: 13-year-old

Presentation: Recurrent jaundice, fatigue, abdominal pain

Labs: Total bilirubin 16 mg/dL, Direct 12 mg/dL; urine bilirubin +

Biopsy: Pigmented hepatocytes

Management:

• No treatment needed (benign)

HYF:

Autosomal recessive; impaired conjugated bilirubin excretion

Rotor Syndrome

Age: 2-month-old

Presentation: Intermittent jaundice

Labs: Total bilirubin 6 mg/dL; Direct 4 mg/dL; Normal AST/ALT

Test: Elevated urinary coproporphyrin

Management:

• No treatment needed (benign)

HYF:

Impaired bilirubin storage; early-onset; benign

Alagille Syndrome

Age: 2-year-old with developmental delay & murmur

Features: Triangular face, VSD, butterfly vertebrae

Labs: Conjugated hyperbilirubinemia, ↑LFTs, cholesterol

Biopsy: Bile duct paucity

Management:

• Supportive cholestasis care
• Liver transplant
• Multisystem evaluation
• Fat-soluble vitamin supplementation

HYF:

Autosomal dominant (JAG1, NOTCH2); multi-organ involvement

Biliary Atresia

Age: 3-week-old

Presentation: Jaundice, dark urine, pale stools, hepatomegaly

Labs: Total bilirubin 6 mg/dL; Direct 5 mg/dL

Imaging: Absent gallbladder, no bile ducts

Biopsy: Bile duct proliferation, fibrosis

Management:

• Kasai procedure (early)
• Fat-soluble vitamins & ursodeoxycholic acid
• Liver transplant if needed

Complications:

• Cirrhosis → liver failure
• Neurodevelopmental delay

HYF:

Obstruction of bile outflow → early cholestasis (pale stools)

Biliary Cyst (Choledochal Cyst)

Age: 2-year-old

Presentation: Jaundice, RUQ mass

Labs: Total bilirubin 6 mg/dL; Direct 5 mg/dL; ↑Lipase

Imaging: Cyst of common bile duct

Management:

• Surgical excision

Complications:

• Cirrhosis, pancreatitis, cholangiocarcinoma
• Neurodevelopmental delay

HYF:

Congenital bile duct dilation; similar early signs as biliary atresia