Chronic Liver Disease in Children: Model Clinical Case and QnA

Initial Presentation

A 6-year-old female presents to the pediatric gastroenterology clinic with progressive jaundice, pruritis, and abdominal distention noticed over the past 4 months. Parents report pale stools, dark urine, and increasing fatigue. Growth chart shows falling from 50th to 15th percentile for weight over the past year.

Key Presenting Symptoms:

• Progressive jaundice
• Intractable pruritis
• Abdominal distention
• Growth failure
• Acholic stools
• Dark urine

Click to read: Liver Condtions

Past Medical History

Born full-term with normal neonatal period. No history of neonatal jaundice. Previously healthy with normal development until current illness. No history of blood transfusions. Family history significant for autoimmune thyroiditis in mother.

Medications:

• Multivitamin
• Recently started on Ursodeoxycholic acid 20mg/kg/day

Physical Examination

Vital Signs:

• Weight: 18 kg (15th percentile)
• Height: 112 cm (25th percentile)
• BP: 105/65 mmHg
• HR: 88 bpm
• RR: 20/min
• Temperature: 37.0°C

Physical Findings:

• General: Alert, visible jaundice, multiple excoriations due to scratching
• HEENT: Icteric sclera, no KF rings
• Skin: Jaundiced, excoriations, no spider angiomas
• Abdomen: Distended with prominent superficial veins, firm liver edge 4cm below costal margin, spleen tip palpable
• Extremities: No clubbing, mild edema
• No xanthomas or other stigmata of chronic liver disease

Laboratory and Imaging Findings

Liver Function Tests:

• Total Bilirubin: 8.2 mg/dL (Normal: 0.3-1.2)
• Direct Bilirubin: 6.8 mg/dL (Normal: 0-0.3)
• ALT: 225 U/L (Normal: 7-35)
• AST: 185 U/L (Normal: 15-50)
• ALP: 985 U/L (Normal: 150-380)
• GGT: 756 U/L (Normal: 5-25)
• Albumin: 3.2 g/dL (Normal: 3.5-5.0)
• INR: 1.4 (Normal: 0.9-1.1)

Additional Studies:

• CBC: Mild anemia (Hb 10.8 g/dL), normal WBC and platelets
• Antinuclear Antibody (ANA): Positive 1:160
• Anti-Smooth Muscle Antibody: Positive 1:80
• IgG: 2,200 mg/dL (elevated)
• Alpha-1 antitrypsin: Normal
• Ceruloplasmin: Normal

Imaging:

• Ultrasound: Heterogeneous liver echotexture, nodular surface, splenomegaly
• MRCP: Beaded appearance of intrahepatic bile ducts, no dilatation

Diagnosis and Assessment

Primary Diagnosis:

Autoimmune Sclerosing Cholangitis with overlap features of Autoimmune Hepatitis

Evidence Supporting Diagnosis:

• Cholestatic presentation with elevated GGT
• Positive autoimmune markers
• MRCP findings consistent with sclerosing cholangitis
• Elevated transaminases and IgG suggesting autoimmune component
• Absence of other causes (normal A1AT, ceruloplasmin)

Disease Severity Assessment:

• Modified HAI score: 14/18 (indicating severe disease)
• Evidence of portal hypertension
• Compromised synthetic function (low albumin, elevated INR)

Management Plan

Immediate Management:

1. Immunosuppressive Therapy:
   • Prednisolone 2 mg/kg/day (tapering schedule)
   • Azathioprine 1-2 mg/kg/day (after checking TPMT)
2. Cholestasis Management:
   • Ursodeoxycholic acid 20 mg/kg/day
   • Rifampin 10 mg/kg/day for pruritis
3. Supportive Care:
   • Fat-soluble vitamin supplementation (A, D, E, K)
   • Nutritional support with MCT-enriched formula
   • Regular growth monitoring

Monitoring Plan:

• Weekly liver function tests initially
• Monthly complete blood count
• Quarterly abdominal ultrasound
• Annual MRCP
• Regular screening for associated autoimmune conditions

Follow-up and Prognosis

Key Points for Follow-up:

• Monitor response to immunosuppression
• Regular screening for complications of chronic liver disease
• Growth and development monitoring
• Quality of life assessment including school performance
• Family support and genetic counseling

Prognosis Factors:

• Response to initial immunosuppression
• Degree of fibrosis at presentation
• Compliance with therapy
• Development of complications

Long-term Considerations:

• Risk of progression to cirrhosis
• Need for liver transplantation assessment
• Increased risk of cholangiocarcinoma
• Impact on growth and development
• Transition planning to adult care

Learning Points

Key Clinical Pearls:

1. Autoimmune liver disease in children often presents with overlap features
2. Early recognition and aggressive immunosuppression improve outcomes
3. Growth failure may be the earliest sign of chronic liver disease
4. Regular monitoring for disease progression and complications is essential
5. Multidisciplinary approach including nutrition, psychology, and social support is crucial

Differential Diagnosis:

• Primary Sclerosing Cholangitis
• Wilson's Disease
• Alpha-1 Antitrypsin Deficiency
• Progressive Familial Intrahepatic Cholestasis
• Chronic Viral Hepatitis

Clinical Presentations of Chronic Liver Disease in Children

Varieties of Clinical Presentations of Chronic Liver Disease in Children

1. Asymptomatic Presentation

   Some children may be asymptomatic and diagnosed incidentally during routine check-ups or investigations for other conditions. Elevated liver enzymes or hepatomegaly may be the only initial findings.

2. Failure to Thrive

   Children may present with poor weight gain, stunted growth, and delayed puberty due to malnutrition associated with chronic liver disease.

3. Jaundice and Pruritus

   Progressive jaundice, dark urine, pale stools, and intense itching can be prominent features, especially in cholestatic liver diseases like biliary atresia or progressive familial intrahepatic cholestasis (PFIC).

4. Portal Hypertension Complications

   Children may present with complications of portal hypertension such as ascites, splenomegaly, or variceal bleeding (hematemesis or melena).

5. Neurological Symptoms

   Hepatic encephalopathy can manifest as behavioral changes, learning difficulties, or in severe cases, altered consciousness and coma.

6. Extrahepatic Manifestations

   Some children may present with symptoms related to extrahepatic involvement, such as joint pain in autoimmune hepatitis or respiratory issues in alpha-1 antitrypsin deficiency.

7. Bleeding Diathesis

   Easy bruising, prolonged bleeding from cuts, or spontaneous nosebleeds due to coagulopathy associated with liver dysfunction.

8. Abdominal Distension and Pain

   Progressive abdominal distension due to hepatosplenomegaly or ascites, sometimes accompanied by discomfort or pain.

9. Recurrent Infections

   Increased susceptibility to infections due to compromised immune function, particularly spontaneous bacterial peritonitis in those with ascites.

10. Metabolic Derangements

    Presentations related to metabolic liver diseases, such as hypoglycemia in glycogen storage disorders or hyperammonemia in urea cycle defects.

Knowledge Check: Question and Answers for Medical Students & Professionals

This interactive quiz component covers essential viva questions and answers. It includes 30 high-yield viva questions with detailed answers.

Question 1 of 30

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