Differential Diagnosis for a 2-day-old Girl with Jaundice
- Single most likely diagnosis
- Physiological jaundice: This is the most common cause of jaundice in newborns, especially in breastfed babies. It occurs due to the breakdown of red blood cells and the liver's immaturity to process bilirubin. The patient's age, breastfeeding, and mild jaundice are consistent with this diagnosis.
- Other Likely diagnoses
- Breast milk jaundice: This type of jaundice is associated with breastfeeding and usually presents in the first week of life. It is caused by substances in the breast milk that increase the reabsorption of bilirubin from the intestines.
- Hemolytic disease of the newborn (HDN) due to ABO incompatibility: Although the mother's blood type is B and the baby's is O, there can still be a reaction due to the differences in the ABO blood group system. However, this is less likely given the baby's Rh-D positive status and the lack of other symptoms.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed)
- Biliary atresia: This is a rare but serious condition where the bile ducts are blocked, leading to liver damage and cirrhosis. Early diagnosis and treatment are crucial to prevent long-term complications.
- Congenital infections (e.g., TORCH infections): Infections such as toxoplasmosis, rubella, cytomegalovirus, and herpes simplex can cause jaundice in newborns. These infections can have severe consequences if left untreated.
- Congenital thyroid disorders: Hypothyroidism can cause jaundice, and it is essential to diagnose and treat it early to prevent long-term developmental delays.
- Rare diagnoses
- Congenital glucose-6-phosphate dehydrogenase (G6PD) deficiency: This is a genetic disorder that can cause hemolytic anemia and jaundice in response to certain triggers, such as infections or medications.
- Congenital pyruvate kinase deficiency: This is a rare genetic disorder that affects the production of pyruvate kinase, an enzyme necessary for glucose metabolism, leading to hemolytic anemia and jaundice.
- Neonatal liver disease (e.g., neonatal hepatitis): This is a rare condition characterized by inflammation of the liver in newborns, which can cause jaundice and other symptoms.