Differential Diagnosis for a 4-Month-Old Child with Hepatomegaly and Liver Function Abnormalities
Single Most Likely Diagnosis
- Biliary Atresia: This condition is characterized by a progressive obliteration of the bile ducts, leading to hepatomegaly, direct hyperbilirubinemia, and elevated liver enzymes (GGT and ALP). The decrease in total proteins and albumin can be seen due to liver dysfunction. Biliary atresia is a common cause of liver disease in infants and typically presents within the first few months of life.
Other Likely Diagnoses
- Neonatal Cholestasis due to Infection (e.g., CMV, rubella): Certain infections can cause cholestasis in neonates, leading to hepatomegaly and abnormal liver function tests. These infections can also cause a decrease in albumin and total proteins.
- Alpha-1 Antitrypsin Deficiency: This genetic disorder can cause liver disease in infants, presenting with hepatomegaly, elevated liver enzymes, and decreased albumin levels due to the liver's inability to release alpha-1 antitrypsin.
- Galactosemia: A genetic disorder that affects the body's ability to metabolize galactose, leading to liver dysfunction, hepatomegaly, and abnormalities in liver function tests, including decreased albumin.
Do Not Miss Diagnoses
- Tyrosinemia Type I: A genetic disorder that can cause severe liver disease, hepatomegaly, and liver failure. It is crucial to diagnose early due to the availability of specific treatments that can significantly improve outcomes.
- Herpes Simplex Virus (HSV) Infection: HSV can cause severe liver disease and failure in neonates, presenting with hepatomegaly and abnormal liver function tests. Early diagnosis and treatment are critical to prevent mortality.
Rare Diagnoses
- Niemann-Pick Disease: A group of genetic disorders that can cause liver disease, hepatomegaly, and abnormalities in liver function tests. While rare, these conditions can present in infancy and require specific diagnostic testing.
- Gaucher's Disease: Another genetic disorder that can affect the liver, causing hepatomegaly and liver dysfunction. It is less common in infants but should be considered in the differential diagnosis of unexplained liver disease.
- Congenital Hepatic Fibrosis: A rare genetic disorder that can cause liver disease and hepatomegaly in infants, often associated with other systemic abnormalities.