Lenka Juráčková, Alica Valachová, Pavol Šimurka, František Horn, Jana Vlčeková
A prenatally acquired cytomegalovirus infection may have serious consequences in the form of microcephaly with various neurological implications. In the case of unexpected neurological symptoms and atypical psychomotor development, it is important to look for another cause of microcephaly. We present a case report of a child with congenital microcephaly, hypotrophy, postnatally confirmed cytomegalovirus infection treated with ganciclovir. The MRI finding (pontocerebellar hypoplasia, neocortical atrophy) was an indication for molecular genetic examination which confirmed the TSEN54 gene with pathogenic founder mutation c.919G>T (p. Ala307Ser) in the homozygous condition, which is the most frequent cause of type 2 pontocerebellar hypoplasia.