The diagnostic value of prenatal ultrasound imaging features in an infant with congenital human cytomegalovirus infection combined with blueberry muffin-like skin manifestations: a case analysis and literature review

BACKGROUND: Congenital cytomegalovirus (CMV) is the most common congenital viral infection worldwide. Most infants with CMV have no obvious clinical symptoms at birth. Purplish-blue skin ecchymosis occurs in a small number of symptomatic neonates with CMV, which is rare. CASE PRESENTATION: A 36-year-old woman experienced menses cessation for 37 weeks and 6 days. The foetal ultrasound diagnostic assessment suggested the following: (1) Bilateral subependymal cysts and mild ventriculomegaly involving the lateral and third ventricles. (2) Doppler assessment and foetal biometric measurements suggested the possibility of moderate foetal anaemia and foetal growth restriction (FGR). CMV infection was ruled out because of concurrent subependymal cysts and anaemia. The pregnant woman underwent emergency caesarean section for foetal distress and delivered a live male infant with a birth weight of 1.97 kg. The newborn presented with a generalized purplish-black rash (predominantly facial), thrombocytopenia, bilateral hearing screening failure (confirmed by AABR), and right retinal haemorrhage. Postdelivery, maternal serology revealed elevated cytomegalovirus IgG antibodies (1436.6 AU/mL). The final diagnoses included neonatal CMV infection and blueberry muffin rash. CONCLUSIONS: Neonatal blueberry muffin rash caused by CMV infection is rare in the clinic. This rare case demonstrates the certain role of prenatal ultrasound in detecting CMV-associated anomalies and highlights the importance of multidisciplinary correlations (clinical, laboratory, and imaging findings) for the timely diagnosis of neonatal blueberry muffin rash.