What is the most likely diagnostic confirmation for a newborn with diffuse jaundice, petechial rash, thrombocytopenia (low platelet count), anemia (low hemoglobin), and sensorineural hearing loss, born at 35 weeks gestation to a mother with a history of fetal growth restriction?

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Differential Diagnosis

  • Single most likely diagnosis
    • Congenital Rubella Syndrome: The combination of diffuse jaundice, petechial rash, low birth weight, sensorineural hearing loss, and the presence of hepatosplenomegaly are highly suggestive of congenital rubella syndrome. The diagnosis can be confirmed by detecting rubella IgM antibodies in the newborn's serum.
  • Other Likely diagnoses
    • Congenital Cytomegalovirus (CMV) Infection: CMV is a common cause of congenital infection and can present with similar symptoms, including jaundice, petechial rash, hepatosplenomegaly, and sensorineural hearing loss.
    • Congenital Toxoplasmosis: Toxoplasmosis can also cause congenital infection with similar symptoms, including jaundice, hepatosplenomegaly, and neurological abnormalities.
    • Congenital Syphilis: Syphilis can cause congenital infection with symptoms such as jaundice, hepatosplenomegaly, and skin rashes.
  • Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
    • Congenital Listeriosis: Listeriosis can cause severe congenital infection with high mortality if left untreated. Although less likely, it is essential to consider this diagnosis due to its potential severity.
    • Congenital Herpes Simplex Virus (HSV) Infection: HSV can cause severe congenital infection with high mortality if left untreated. Although less likely, it is essential to consider this diagnosis due to its potential severity.
  • Rare diagnoses
    • Congenital Varicella Syndrome: Varicella can cause congenital infection with symptoms such as jaundice, hepatosplenomegaly, and skin rashes, although this is a rare occurrence.
    • Congenital Parvovirus B19 Infection: Parvovirus B19 can cause congenital infection with symptoms such as jaundice and hepatosplenomegaly, although this is a rare occurrence.
    • Severe Combined Immunodeficiency (SCID): SCID is a rare condition that can present with similar symptoms, including petechial rash and hepatosplenomegaly, due to the inability to fight off infections.

The most likely test to confirm the diagnosis is E) Serum rubella IgM titer, as it directly detects the presence of rubella virus in the newborn's serum.

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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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