Differential Diagnosis for 10-day-old Female with Jaundice and Bilirubin of 16

Single Most Likely Diagnosis

• Breast Milk Jaundice: This condition is common in breastfed infants, typically presenting in the first or second week of life. The bilirubin level of 16, while elevated, is within a range that could be consistent with breast milk jaundice, especially if the infant is otherwise healthy and the jaundice is not rapidly escalating.

Other Likely Diagnoses

• Physiological Jaundice: Although the bilirubin level is somewhat high for physiological jaundice, it remains a possibility, especially if the infant is not showing signs of distress or other concerning symptoms.
• Dehydration: Not eating can lead to dehydration, which in turn can cause a rise in bilirubin levels. Ensuring adequate hydration is crucial, and this diagnosis can often be addressed with supportive care.
• Infection: Neonatal infections can cause jaundice, and the fact that the infant is not eating raises concern for a possible infection. However, other signs of infection (e.g., fever, lethargy) would typically be present.

Do Not Miss Diagnoses

• Biliary Atresia: Although rare, biliary atresia is a serious condition that requires prompt surgical intervention to prevent liver damage. It typically presents with persistent jaundice beyond 2 weeks of age, but early detection is crucial.
• Galactosemia: This genetic disorder can cause severe jaundice, among other symptoms, and is critical to diagnose early to initiate appropriate dietary management and prevent long-term complications.
• Hemolytic Disease of the Newborn (HDN): If not previously diagnosed or if there was a delay in diagnosis, HDN could still be a consideration, especially if there are risk factors such as blood group incompatibility between the mother and the infant.

Rare Diagnoses

• Congenital Thyroidism: Hypothyroidism can cause prolonged jaundice in newborns, although it is less common.
• Congenital Infections (e.g., TORCH infections): Infections such as toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus can cause jaundice among other symptoms, but are relatively rare.
• Neonatal Liver Diseases (e.g., neonatal hepatitis): These conditions are rare but can cause significant morbidity and require specific management.

Each of these diagnoses has different implications for management and prognosis, highlighting the importance of a thorough diagnostic evaluation.