Blueberry muffin baby. A rare presentation of congenital cytomegalovirus infection.

Sofia Martins, Gustavo Rocha, Goretti Silva, Ana Calistru, Susana Pissarra, Hercília Guimarães


The 'blueberry muffin baby' designation was used to describe the cutaneous manifestations of congenital rubella. The differential diagnosis includes other TORCH infections, blood dyscrasias, neoplasms, or vascular disorders. We present a case of a newborn admitted at birth for presenting disseminated violaceous cutaneous nodules. Pregnancy was full term and without infectious complications, with prenatal diagnosis of restrictive intrauterine growth, hydramnios and suspected esophageal atresia. Maternal serology with no evidence of infection. The newborn blood study showed thrombocytopenia, direct hyperbilirubinemia, elevated transaminases and coagulopathy. During hospitalization he showed progressive hepatosplenomegaly. Skin biopsy showed extramedullary erythropoiesis. Myelogram revealed absence of megakaryocytic line precursors. The molecular analysis for cytomegalovirus in peripheral blood and bone marrow was positive. Cerebral ultrasound examination revealed bilateral calcifications and periventricular hyperechogenicity. The placental anatomopathological exam showed features suggestive of cytomegalovirus infection. On the fifth day of life was initiated ganciclovir. This case presentation is intended to emphasize that although it is a rare manifestation, congenital cytomegalovirus infection should be considered in the differential diagnosis of 'blueberry muffin baby'.

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