[Early diagnosis of congenital cytomegalovirus infection: lost opportunities]

Abstract

Introduction: Cytomegalovirus (CMV) infection is the most common congenital infection in Europe. Symptoms are present at birth in 10% of infected children, and up to 30-40% have some degree of hearing loss after the newborn period.

Methods: A retrospective study was performed over a period of 4 years and included all patients with congenital CMV infection diagnosed after the neonatal period using the dried blood spots from neonatal metabolic screening.

Results: We present 5 patients diagnosed with congenital CMV infection outside the neonatal period. The main reasons for consultation were hearing loss and/or neurological impairment in the first few months of life.

Discussion: Congenital CMV infection may be mildly symptomatic at birth, and present as hearing loss and/or neurological impairment in infancy. Therefore, a high degree of suspicion is necessary in order to make an accurate diagnosis and start specific treatment to improve the outcome.