Question

An infant presents with hepatosplenomegaly and thrombocytopenia. Neuroimaging with CT shows periventricular calcifications. What is the most likely diagnosis?

• A. Congenital rubella syndrome
• B. Congenital herpes simplex virus infection
• C. Congenital toxoplasmosis
• D. Congenital cytomegalovirus infection

Answer 1

The Correct Option is D

To solve the problem, we need to consider the clinical features presented and correlate them with the likely diagnosis:

1. Symptoms: The infant exhibits hepatosplenomegaly and thrombocytopenia. These symptoms suggest an underlying congenital infection.
2. Neuroimaging: The CT scan reveals periventricular calcifications. This finding is critical as it helps differentiate between various congenital infections.
3. Plausible Diagnoses: We evaluate these symptoms against common congenital infections:
   • Congenital rubella syndrome: Typically associated with cardiac defects, cataracts, and sensorineural deafness.
   • Congenital herpes simplex virus infection: Often presents with vesicular lesions, encephalitis, and may show different neuroimaging findings.
   • Congenital toxoplasmosis: Characteristically presents with diffuse calcifications (scattered) throughout the brain, not periventricular.
   • Congenital cytomegalovirus (CMV) infection: Causes periventricular calcifications, hepatosplenomegaly, and thrombocytopenia.
4. Conclusion: The combination of hepatosplenomegaly, thrombocytopenia, and periventricular calcifications are most indicative of Congenital cytomegalovirus infection. This aligns with the CT findings and clinical presentation described.