Differential Diagnosis for a 2-month-old Girl with Jaundice and Hepatosplenomegaly
- Single most likely diagnosis:
- Congenital CMV infection: This is likely due to the patient's presentation with jaundice, hepatosplenomegaly, and punctate calcifications around the ventricular margin on head ultrasound, which are classic findings for congenital CMV infection. The fact that the patient's sister also had neonatal jaundice could suggest a familial or genetic predisposition, but the specific findings in this case point more towards an infectious cause like CMV.
- Other Likely diagnoses:
- Biliary atresia: Although less likely than CMV given the ultrasound findings, biliary atresia could explain the jaundice and hepatosplenomegaly. However, it typically does not cause punctate calcifications.
- Neonatal hepatitis: This could be a consideration given the jaundice and hepatosplenomegaly, but the presence of punctate calcifications and the sister's history of neonatal jaundice make CMV more likely.
- Galactosemia: This metabolic disorder can cause jaundice, hepatosplenomegaly, and failure to thrive, but it does not typically cause the specific ultrasound findings seen in this patient.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed):
- Herpes simplex virus (HSV) infection: Although less common than CMV, HSV can cause severe neonatal disease, including hepatitis, encephalitis, and death if not promptly treated.
- Toxoplasmosis: This parasitic infection can cause similar symptoms to CMV, including jaundice, hepatosplenomegaly, and intracranial calcifications. It is less common but critical to diagnose due to the availability of treatment.
- Rubella: Congenital rubella syndrome can cause a variety of symptoms, including jaundice, hepatosplenomegaly, and cardiac defects. Although rare in areas with widespread vaccination, it remains a critical diagnosis not to miss.
- Rare diagnoses:
- Niemann-Pick disease: A group of genetic disorders that can cause hepatosplenomegaly and failure to thrive, but they are rare and do not typically present with the specific combination of findings seen in this patient.
- Other congenital infections (e.g., syphilis, HIV): These infections can cause a variety of symptoms, including jaundice and hepatosplenomegaly, but they are less likely given the patient's presentation and the normal prenatal serology.