Hepatomegaly in Children: Clinical Case and Viva QnA

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Hepatomegaly in Children: Clinical Case Discussion
Chief Complaint

6-year-old male presenting with abdominal distention and decreased appetite for 2 months.

History of Present Illness

Previously healthy 6-year-old boy brought by parents with progressive abdominal distention noticed over the past 2 months. Associated with:

  • Decreased appetite with early satiety
  • Mild intermittent right upper quadrant discomfort
  • Fatigue and decreased activity
  • No fever
  • No jaundice
  • No pruritis
  • No changes in stool or urine color
Past Medical History
  • Full-term vaginal delivery
  • Normal growth and development
  • Immunizations up to date
  • No previous hospitalizations or surgeries
  • No known allergies
Family History
  • Parents non-consanguineous
  • Maternal aunt with hypothyroidism
  • No family history of liver disease
  • No history of genetic disorders
Social History
  • Lives with parents and younger sister
  • No recent travel
  • No exposure to sick contacts
  • No pets at home
Physical Examination

Vital Signs

  • Temperature: 37.2°C
  • Heart Rate: 92/min
  • Respiratory Rate: 24/min
  • Blood Pressure: 100/65 mmHg
  • Weight: 18 kg (25th percentile)
  • Height: 112 cm (35th percentile)

General Examination

  • Alert, active child
  • No pallor, jaundice, or lymphadenopathy
  • No dysmorphic features

Abdominal Examination

  • Distended abdomen with prominent right upper quadrant
  • Liver palpable 8 cm below right costal margin
  • Firm consistency with smooth surface
  • Sharp border
  • Non-tender
  • Span of 12 cm in midclavicular line
  • Spleen not palpable
  • No ascites

Other Systems

  • Cardiovascular: Normal heart sounds, no murmurs
  • Respiratory: Clear breath sounds bilaterally
  • Neurological: Normal tone and reflexes
Differential Diagnosis

Most Likely Diagnoses

  1. Glycogen Storage Disease
    • Large, firm liver
    • Age of presentation
    • Absence of other systemic signs
  2. Primary Liver Tumor (Hepatoblastoma)
    • Firm hepatomegaly
    • Age appropriate
    • Constitutional symptoms
  3. Chronic Viral Hepatitis
    • Progressive hepatomegaly
    • Decreased appetite

Less Likely But Important

  1. Autoimmune Hepatitis
    • Can present with isolated hepatomegaly
    • Less common in this age group
  2. Wilson's Disease
    • Usually presents later
    • No neurological symptoms
  3. Leukemia
    • No other cytopenias signs
    • No constitutional symptoms
Initial Investigations Required

Blood Tests

  • Complete Blood Count with differential
  • Liver Function Tests (ALT, AST, ALP, GGT, Bilirubin, Albumin)
  • Coagulation Profile (PT, INR)
  • Blood Sugar (fasting and post-prandial)
  • Viral Markers (Hepatitis B, C)
  • Alpha-fetoprotein
  • Serum Lactate
  • Creatine Kinase
  • Lipid Profile

Imaging

  • Ultrasound Abdomen with Doppler
  • Chest X-ray
Further Workup (Based on Initial Results)
  • CT/MRI Abdomen (if mass lesion suspected)
  • Liver Biopsy (if needed for definitive diagnosis)
  • Genetic Testing (if metabolic disease suspected)
  • Autoimmune Workup (if indicated)
  • Endocrine Evaluation (if indicated)


Knowledge Check: Question and Answers

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

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