Introduction: Infection by cytomegalovirus (CMV) is the most frequent congenital viral infection. Although it offers a wide range of manifestations, it nevertheless continues to be underdiagnosed if there are no symptoms in the newborn infant, which is what most commonly happens. A definitive retrospective diagnosis can only be reached after the first three weeks by detecting CMV DNA in blood on the filter paper used in the neonatal screening test.
Patients and methods: The article reviews our experience with congenital CMV from a diagnostic perspective and with the study of CMV DNA in the heel prick test.
Results: Of the 10,855 patients included in the neuropaediatric service database, there were 11 cases of congenital CMV. The diagnosis was only probable in four cases and it was definitive in seven of them, the diagnosis being obtained in the neonatal period in four of these patients and retrospectively in three others, by means of the heel prick test. The heel prick test was performed in 10 cases altogether, and was positive in five of them.
Conclusions: There can be no doubt that many cases of congenital CMV infection are still not diagnosed. Retrospective study of congenital infection by CMV by detecting DNA in blood from the filter paper used in the neonatal screening test should be considered in the presence of severe symptoms and different clinical pictures such as: delayed intrauterine growth, microcephaly, neurosensory hypoacusis, chorioretinitis, mental retardation, behavioural disorders (especially autistic spectrum disorders), intracranial calcifications, encephaloclastic disorders, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe or the hippocampus. Given its availability, ready access and low cost, the benefits to be gain from continuing to use the heel prick test should be reconsidered.