Unusual association of choanal atresia, digital hypoplasia, simian crease, cortical atrophy and hemiparesis with congenital cytomegalovirus infection

Abstract

Cytomegalovirus (CMV) is one of the most common congenital viral infections in humans. It can follow both primary and recurrent maternal infections and is an important cause of morbidity and mortality in newborns. The effects of congenital CMV infection vary widely from asymptomatic illness to a congenital syndrome with microcephaly, jaundice, hepatosplenomegaly and petechiae. Infants who are asymptomatic at birth may still present with sensorineural hearing loss, mental retardation and neuromuscular defects at a later age. We report a full term, small-for-gestational age neonate with congenital CMV infection who presented with unusual clinical features, including choanal atresia, digital hypoplasia, simian crease, blueberry muffin rash, cortical atrophy and hemiparesis.

Keywords

Blueberry muffin rash - congenital cytomegalovirus infection - choanal atresia - digital hypoplasia - hemiparesis - simian crease