Differential Diagnosis for the 4-week-old Girl with Prolonged Jaundice
- Single most likely diagnosis:
- Glucose-6-phosphate dehydrogenase (G6PD) deficiency: This condition is more likely given the patient's age, sex, and the fact that her mother is from Greece, where G6PD deficiency is more common. The patient's hemoglobin level is low (9 g/dL), and she has a high reticulocyte count (15%), indicating hemolysis. G6PD deficiency can cause hemolytic anemia, especially in response to certain triggers like infection or certain medications, which could explain the prolonged jaundice.
- Other Likely diagnoses:
- ABO incompatibility: Although less likely given the patient's blood type (A, Rh-D positive) and her mother's blood type (AB, Rh-D positive), ABO incompatibility can still cause hemolytic disease of the newborn. However, the fact that the patient's bilirubin was normal at discharge and then became elevated again makes this diagnosis less likely.
- Breastfeeding failure jaundice: This condition can cause prolonged jaundice in breastfed infants, but it is less likely in this case since the patient's weight and length are at the 50th percentile, indicating adequate nutrition.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.):
- Hereditary spherocytosis: This is a rare condition that can cause hemolytic anemia, but it is important to consider because it can be life-threatening if not diagnosed and treated promptly. The patient's laboratory results do not strongly suggest this diagnosis, but it should be considered in the differential.
- Beta thalassemia: Although beta thalassemia is more common in Mediterranean populations, the patient's laboratory results do not strongly suggest this diagnosis. However, it is important to consider because it can be a serious condition if not diagnosed and treated promptly.
- Rare diagnoses:
- Other hemoglobinopathies: There are many other hemoglobinopathies that can cause hemolytic anemia and prolonged jaundice, but they are relatively rare and would require specific laboratory tests to diagnose.
- Congenital infections: Certain congenital infections, such as congenital tuberculosis or congenital syphilis, can cause prolonged jaundice, but they are relatively rare and would require specific laboratory tests to diagnose.