Differential Diagnosis for a 2-week-old Boy with Persistent Jaundice
- Single Most Likely Diagnosis
- Breast milk jaundice: This condition is a common cause of prolonged jaundice in breastfed infants, typically presenting in the first or second week of life. The fact that the patient is exclusively breastfed and has light yellow stools supports this diagnosis.
- Other Likely Diagnoses
- Biliary atresia: Although less common, biliary atresia is a significant cause of direct hyperbilirubinemia in infants. The presence of direct bilirubin at 7.4 mg/dL and the patient's age make this a possible diagnosis.
- Choledochal cyst: A congenital anomaly of the bile duct that can cause obstructive jaundice. The patient's symptoms and lab results could be consistent with this condition.
- Neonatal hepatitis: Infection or inflammation of the liver can cause direct hyperbilirubinemia. The patient's normal liver enzymes make this less likely, but it remains a possibility.
- Do Not Miss Diagnoses
- Biliary obstruction due to other causes (e.g., bile duct stones, tumors): These conditions can cause severe and potentially life-threatening complications if not promptly diagnosed and treated.
- Alagille syndrome: A genetic disorder that affects the liver, heart, and other organs. It can cause direct hyperbilirubinemia and has significant implications for the patient's long-term health.
- Metabolic disorders (e.g., galactosemia, tyrosinemia): These conditions can cause liver dysfunction and direct hyperbilirubinemia. Early diagnosis and treatment are crucial to prevent long-term damage.
- Rare Diagnoses
- Progressive familial intrahepatic cholestasis: A group of rare genetic disorders that affect bile transport and cause direct hyperbilirubinemia.
- Congenital infections (e.g., congenital syphilis, toxoplasmosis): These infections can cause liver dysfunction and direct hyperbilirubinemia, although they are relatively rare in this clinical context.
- Genetic disorders affecting bilirubin metabolism (e.g., Crigler-Najjar syndrome): These conditions are rare and typically present with indirect hyperbilirubinemia, but some forms can cause direct hyperbilirubinemia.