Liver & Hepatobiliary Disorders – Clinical Scenarios with Lab Data
You will be presented with 8 clinical scenarios of children with suspected liver and hepatobiliary disorders.
For each, interpret the lab data and provide: 1) Diagnosis, 2) Any other test, 3) What to do next, 4) Follow-up plan.
Case 1
A 12-year-old with jaundice, tremors, and difficulty in speech.
Serum Ceruloplasmin
12 mg/dL (low, normal 20-40)
Serum ALT
85 U/L (mildly elevated)
Serum Bilirubin (Total/Direct)
2.8/1.2 mg/dL
Alkaline Phosphatase
125 U/L (normal)
Blood Pressure
118/72 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Wilson disease (hepatolenticular degeneration) – Kayser-Fleischer rings, low ceruloplasmin, high urinary copper.
• Any other test: Liver biopsy for quantitative copper (>250 µg/g dry weight), ATP7B genetic testing, slit-lamp exam for KF rings (already done), MRI brain for basal ganglia involvement.
• What to do next: Start chelation therapy (trientine 20 mg/kg/day) + zinc acetate. Avoid penicillamine in neurologic Wilson disease (can worsen symptoms). Low copper diet.
• Follow-up plan: Monitor 24-hour urinary copper (target on zinc <40 µg/24h), serum free copper, LFTs, and neurologic exam. Screen siblings with ceruloplasmin, 24h urinary copper, and genetic testing.
Case 2
A 6-week-old infant with jaundice, pale stools , and dark urine. Previously well, now lethargic.
Total Bilirubin
12 mg/dL
Direct Bilirubin
8 mg/dL (elevated)
GGT
450 U/L (elevated)
ALT
160 U/L (elevated)
Blood Pressure
75/45 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Biliary atresia – conjugated hyperbilirubinemia, acholic stools, absent gallbladder, triangular cord sign on ultrasound.
• Any other test: Intraoperative cholangiogram (gold standard), liver biopsy (bile duct proliferation, portal fibrosis), hepatitis and metabolic workup to exclude other causes.
• What to do next: Kasai hepatoportoenterostomy (before 60 days of age for best outcomes). Preoperative vitamin K, nutritional support with MCT oil.
• Follow-up plan: Post-Kasai: monitor for cholangitis (fever, jaundice, elevated LFTs), stool color, growth. Ursodeoxycholic acid, fat-soluble vitamins (ADEK). Assess for liver transplant if progressive cirrhosis.
Case 3
A 10-year-old with acute onset jaundice, nausea, vomiting, and right upper quadrant pain. No travel history.
ALT
1200 U/L (elevated)
AST
950 U/L (elevated)
Total Bilirubin
5.5 mg/dL
Anti-HAV IgM
Positive
HBsAg
Negative
Anti-HCV
Negative
Blood Pressure
110/68 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Acute hepatitis A – anti-HAV IgM positive, elevated transaminases, jaundice.
• Any other test: Liver function tests (INR, albumin), anti-HAV IgG (confirms recent infection), stool testing for HAV RNA (not routine). Rule out other causes if severe.
• What to do next: Supportive care (hydration, rest, avoid hepatotoxic drugs). Monitor for fulminant hepatic failure (INR, bilirubin, encephalopathy). Notify public health.
• Follow-up plan: Monitor LFTs weekly until improvement. Symptoms usually resolve in 2-4 weeks. No chronic carrier state. Household contacts should receive HAV vaccine or immune globulin.
Case 4
A 7-year-old with hepatomegaly, splenomegaly, and repeated epistaxis. No jaundice, no ascites.
Platelets
45,000/µL (low)
WBC
2.8 × 10³/µL (low)
ALT
45 U/L (normal)
Albumin
4.0 g/dL (normal)
INR
1.1 (normal)
Blood Pressure
110/70 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Extrahepatic portal vein obstruction (EHPVO) – cavernous transformation, splenomegaly, hypersplenism, preserved synthetic function.
• Any other test: Doppler ultrasound (portal vein patency), upper GI endoscopy (varices), liver biopsy if liver synthetic dysfunction (not needed here). Thrombophilia workup.
• What to do next: Endoscopic variceal screening. If varices present: primary prophylaxis with propranolol or band ligation. Evaluate for Meso-Rex bypass (if Rex recess patent).
• Follow-up plan: Regular surveillance for varices (endoscopy every 1-2 years). Monitor platelet count, splenomegaly. Consider shunt surgery if recurrent bleeding. Avoid splenectomy (risk of sepsis).
Case 5
A 14-year-old with fatigue, jaundice, and pruritus. He has a history of autoimmune hepatitis. Currently on prednisone.
ALT
180 U/L (elevated)
AST
150 U/L (elevated)
Alkaline Phosphatase
450 U/L (elevated)
GGT
320 U/L (elevated)
ANA
1:320 (positive)
MRCP
Beaded intrahepatic bile ducts, strictures
Blood Pressure
125/80 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: PSC-AIH overlap syndrome – autoimmune hepatitis (ANA positive) with sclerosing cholangitis (beaded ducts on MRCP).
• Any other test: Liver biopsy (interface hepatitis + bile duct injury), ERCP if therapeutic intervention needed, IgG4 level (rule out IgG4 disease).
• What to do next: Continue corticosteroids (prednisone) and add azathioprine or mycophenolate. Add ursodeoxycholic acid (UDCA) for cholestasis. Monitor for cholangitis.
• Follow-up plan: Monitor LFTs, IgG, ANA. Repeat MRCP for disease progression. Screen for cholangiocarcinoma (CA 19-9, ultrasound/MRCP annually). Liver transplant if decompensated.
Case 6
A 9-year-old with chronic hepatitis B , now with elevated ALT and HBV DNA.
ALT
135 U/L (elevated)
HBV DNA
2,500,000 IU/mL (elevated)
HBeAg
Positive
Anti-HBe
Negative
FibroScan
8.5 kPa (F2 fibrosis)
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Immune active chronic hepatitis B – HBeAg positive, high HBV DNA, elevated ALT, fibrosis.
• Any other test: Renal function, bone density (tenofovir), TSH, and liver synthetic function (INR, albumin). HIV/HCV/HDV screening.
• What to do next: Start antiviral therapy: tenofovir (8-12 mg/kg/day) or entecavir (0.015 mg/kg/day). Peginterferon if age ≥1 year (alternative).
• Follow-up plan: Monitor ALT, HBV DNA every 3-6 months, HBeAg seroconversion, renal function, bone density. Lifelong therapy typically required. Screen for HCC with AFP and ultrasound every 6 months if cirrhosis.
Case 7
A 2-month-old with conjugated hyperbilirubinemia, hepatomegaly, .
Total Bilirubin
8 mg/dL
Direct Bilirubin
6 mg/dL (elevated)
GGT
45 U/L (normal)
ALT
180 U/L (elevated)
Metabolic Screen
Normal
TORCH Screen
Negative
Cholangiogram
Patent extrahepatic ducts
Blood Pressure
80/50 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Idiopathic neonatal hepatitis (diagnosis of exclusion) – giant cell hepatitis on biopsy, normal GGT, patent bile ducts.
• Any other test: Genetic testing for PFIC1/2 (ATP8B1, ABCB11), bile acid synthesis defects, and alpha-1 antitrypsin. Check serum bile acids and urine bile acid profile.
• What to do next: Supportive care: MCT-enriched formula, fat-soluble vitamins (ADEK aqueous), ursodeoxycholic acid (UDCA). Monitor growth and liver function.
• Follow-up plan: Monitor LFTs, bilirubin, and INR monthly. Most cases resolve spontaneously by 6-12 months. If persistent cholestasis, genetic testing for PFIC and consider liver biopsy/transplant if cirrhosis.
Case 8
A 16-year-old with acute onset jaundice, abdominal pain, and fever.
Total Bilirubin
25 mg/dL (elevated)
Direct Bilirubin
15 mg/dL (elevated)
ALT
3500 U/L (elevated)
AST
2800 U/L (elevated)
INR
2.8 (elevated)
Hemoglobin
6.5 g/dL (low)
Reticulocyte Count
2%
Blood Pressure
95/60 mm Hg
1️⃣ Diagnosis: (Write your answer below)
2️⃣ Any other test: (Write your answer below)
3️⃣ What to do next: (Write your answer below)
4️⃣ Follow-up plan: (Write your answer below)
✅ Model Answer:
• Diagnosis: Sickle cell intrahepatic cholestasis (SCIC) / acute sickle hepatic crisis – very high bilirubin, transaminitis, coagulopathy, low reticulocyte count (aplastic crisis).
• Any other test: Blood cultures, parvovirus B19 (aplastic crisis), exchange transfusion workup, viral hepatitis panel (rule out coinfection), right upper quadrant ultrasound.
• What to do next: Emergency exchange transfusion to lower HbS and improve hepatic perfusion. Supportive care: IV fluids, vitamin K, monitor INR. ICU admission.
• Follow-up plan: Monitor liver function, Hb, and HbS percentage. After recovery, continue hydroxyurea, folic acid, and regular transfusion if needed. Liver transplant rare but consider for end-stage.
⚠️ Key Concept: Pediatric Liver Disorders
• Wilson disease: ATP7B mutation, low ceruloplasmin, KF rings, high urinary copper. Treat with trientine + zinc.
• Biliary atresia: Kasai before 60 days. Conjugated hyperbilirubinemia, acholic stools, absent gallbladder.
• Viral hepatitis: HAV (self-limited, vaccine), HBV (chronic, treat with tenofovir), HCV (DAAs cure >95%).
• Portal hypertension: EHPVO (Meso-Rex bypass), cirrhosis (transplant). Varices → banding + propranolol.
• Sickle cell hepatopathy: Exchange transfusion for SCIC. High mortality without rapid intervention.
🎯 Examiner Scoring Checklist
• Identifies Wilson disease (KF rings, low ceruloplasmin, high urinary copper)