Oportunidades perdidas no diagnóstico de malformação congênita:relato de caso

Abstract

Genetic, metabolic or environmental disorders can cause malformations of the central nervous system (CNS) that take place during the cerebrospinal development. Congenital infections are part of environmental causes of CNS malformations. We report a case of an infant with a congenital CNS malformation, suspected of having CMV infection. Maternal use of valacyclovir during pregnancy without amniotic fluid assessment due to advanced gestational age might have prevented the virus isolation in the newborn and the identification of the cause of CNS malformation. We discuss the difficulties encountered for a diagnosis of certainty and for the child in question. Even in developed countries, congenital infections are still a great diagnostic challenge. Missed opportunities for investigation should be avoided so that the etiology becomes early recognized and, if possible, treated

Keywords

• nervous system malformations
• diagnosis
• zika virus infection
• cytomegalovirus