Differential Diagnosis for a 1-day-old Boy with Macrocephaly and Jaundice
- Single most likely diagnosis:
- Congenital toxoplasmosis: The mother's travel to central Africa during the first trimester, where she developed fever, swollen lymph nodes, and muscle aches, suggests a possible infection with Toxoplasma gondii. The presence of hydrocephalus, diffuse intracranial calcifications, and jaundice in the newborn supports this diagnosis, as congenital toxoplasmosis can cause these symptoms.
- Other Likely diagnoses:
- Congenital cytomegalovirus (CMV) infection: CMV is a common cause of congenital infection and can result in similar symptoms, including macrocephaly, jaundice, hepatomegaly, and intracranial calcifications.
- Congenital rubella syndrome: Although less common due to vaccination, congenital rubella can cause a range of symptoms, including macrocephaly, jaundice, and intracranial calcifications.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed):
- Congenital syphilis: This condition can cause similar symptoms, including macrocephaly, jaundice, and hepatomegaly. It is essential to consider and rule out congenital syphilis due to its potential for severe morbidity and mortality if left untreated.
- Meningitis or sepsis: Although the patient's vital signs are normal, it is crucial to consider and rule out bacterial meningitis or sepsis, as these conditions can present with similar symptoms and require prompt treatment to prevent severe complications.
- Rare diagnoses:
- Aicardi-Goutières syndrome: This rare genetic disorder can cause intracranial calcifications, macrocephaly, and other symptoms similar to those presented in the case.
- Congenital lymphocytic choriomeningitis virus (LCMV) infection: LCMV is a rare cause of congenital infection, but it can result in similar symptoms, including macrocephaly, jaundice, and intracranial calcifications.