History

• Liver disease
  
• Developmental delay
  
• Dysmorphism
  
• Abdominal pain
  
• Easy bruising
  
• Weight loss

Hepatoblastoma is associated with hemihypertrophy, a family history of familial adenomatous polyposis (FAP) due to mutations in the APC gene and precocious puberty

Examination

• Ascites will be identified by shifting dullness and a fluid thrill
  
• Organomegaly, dysmorphism, hemihypertrophy, ear folds in Beckwith–Weidermann syndrome
  
• There may be peripheral stigmata of chronic liver disease as the underlying pathology of portal hypertension with splenomegaly

Differential diagnosis

• Ascites: chronic liver disease of any cause (may be sudden-onset ascites following a variceal bleed or sepsis):
  
  
  
  • Heart failure
    
  • Budd–Chiari syndrome
  
  
• Neonatal ascites: see Table 18.3
  
• Malignancy: hepatoblastoma, neuroblastoma, haemangioendothelioma (see Chapter 23), mesenchymal hamartoma
  
• Storage disease:
  
  
  
  • Neimann Pick A, B or C
    
  • Glycogen storage disease

Investigations

• Liver biochemistry: aspartate transaminase (AST), alanine transaminase (ALT) and bilirubin are elevated in chronic liver disease and storage disorders. They are normal in hepatoblastoma
  
• Liver synthetic markers: albumin and clotting may be abnormal in chronic liver disease. May be normal in late presentation of Niemann Pick C
  
• FBC: platelets may be reduced in hypersplenism; abnormal mor­phology of lymphocytes in Wolman’s disease; thrombocytosis with hepatoblastomas

Specific blood investigations

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