What is the most likely underlying cause of jaundice, hepatomegaly, and hypotonia in a 1-day-old newborn girl born at 39 weeks' gestation?

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Differential Diagnosis for Newborn Jaundice

  • Single most likely diagnosis
    • D. UDP-glucuronosyltransferase deficiency: This condition, also known as Gilbert syndrome or more severe forms like Crigler-Najjar syndrome, is a common cause of neonatal jaundice due to the inability to conjugate bilirubin. The presence of jaundice, hepatomegaly, and decreased muscle tone in a newborn with no history of prenatal care or serious medical illness in the mother makes this a plausible diagnosis. UDP-glucuronosyltransferase deficiency leads to an accumulation of unconjugated bilirubin, which can cause the symptoms observed.
  • Other Likely diagnoses
    • A. Glucose-6-phosphate dehydrogenase deficiency: This is an X-linked recessive disorder that can cause hemolytic anemia, leading to jaundice. Newborns with this deficiency are at risk of developing jaundice due to the breakdown of red blood cells. However, it's less likely than UDP-glucuronosyltransferase deficiency given the clinical presentation.
    • E. IgG antibody formation against D antigen: This refers to hemolytic disease of the newborn (HDN) due to Rh incompatibility. If the mother is Rh-negative and has been sensitized to Rh-positive blood (e.g., from a previous pregnancy), she may produce IgG antibodies against the D antigen, which can cross the placenta and cause hemolysis in an Rh-positive fetus. This could lead to jaundice, but the lack of prenatal care and specific details about the mother's Rh status make it less clear.
  • Do Not Miss diagnoses
    • C. Biliary duct malformation: Although less common, biliary atresia or other malformations of the biliary ducts can cause obstructive jaundice. This condition requires prompt diagnosis and surgical intervention to prevent liver damage, making it a critical diagnosis not to miss.
    • B. IgM antibody formation against A and B antigens: This would be indicative of an ABO incompatibility reaction, which can also cause hemolytic disease of the newborn. While less severe than Rh incompatibility, it's still important to consider, especially given the lack of prenatal care and potential for undiagnosed blood group incompatibilities.
  • Rare diagnoses
    • Other rare genetic disorders affecting bilirubin metabolism or hemolysis, such as congenital spherocytosis or other red cell membrane disorders, could also present with similar symptoms but are less likely given the information provided.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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