Differential Diagnosis for Elevated Liver Enzymes in a 6-Year-Old

Single Most Likely Diagnosis

• Viral Hepatitis: This is often the most common cause of elevated liver enzymes in children, with hepatitis A being particularly prevalent in this age group due to exposure in school or daycare settings. The presentation can range from asymptomatic to severe hepatitis.

Other Likely Diagnoses

• Non-Alcoholic Fatty Liver Disease (NAFLD): Although more commonly associated with adults, NAFLD is increasingly recognized in children, especially those who are overweight or obese. It can lead to elevated liver enzymes due to fatty infiltration of the liver.
• Medication-Induced Liver Injury: Various medications, including certain antibiotics and anticonvulsants, can cause liver enzyme elevations as a side effect. Given the broad range of medications that can affect the liver, this diagnosis should be considered, especially if the child is on any chronic medications.
• Autoimmune Hepatitis: Although less common, autoimmune hepatitis can present in children and is characterized by chronic inflammation of the liver. It's an important consideration because early treatment can significantly impact outcomes.

Do Not Miss Diagnoses

• Wilson's Disease: A genetic disorder leading to copper accumulation in the liver, which can cause liver enzyme elevations. Early diagnosis is crucial as it can lead to severe liver damage if not treated promptly.
• Alpha-1 Antitrypsin Deficiency: A genetic disorder that can cause liver disease and lung disease. It's essential to diagnose early to manage liver complications effectively.
• Budd-Chiari Syndrome: A condition caused by thrombosis of the hepatic veins, leading to liver enlargement and elevated liver enzymes. It's a medical emergency requiring prompt intervention.

Rare Diagnoses

• Glycogen Storage Diseases: A group of genetic disorders affecting glycogen synthesis or breakdown, which can lead to elevated liver enzymes among other symptoms.
• Mitochondrial Disorders: Conditions affecting the mitochondria, such as mitochondrial DNA depletion syndrome, can have liver involvement, including elevated liver enzymes.
• Lysosomal Storage Diseases: Certain diseases like Gaucher's disease can involve the liver and cause elevations in liver enzymes due to the accumulation of toxic substances within lysosomes.

Each of these diagnoses requires careful consideration of the child's clinical presentation, laboratory findings, and sometimes genetic testing to confirm the diagnosis and guide appropriate management.