The role of cytomegalovirus in schizencephaly

We read with interest the paper of Mellado et al. [2010] who did not find pathogenic mutations in schizencepahlic patients in the LHX2, HESX1, and SOX2 genes, suggesting that other genes or non-genetic factors influencing genes critical to brain development must be responsible for schizencephaly. As well, Merello et al. [2008] demonstrated that the reported association of schizencephaly and mutations was not supported by current data, and that diagnostic testing of EMX2 is not justified. We reported in 1998 two children with left open-lip schizencephaly in whom cytomegalovirus (CMV) infection was demonstrated on the second day of life in Patient 1; in Patient 2 CMV infection was observed at the age of 4 years [Iannetti et al., 1998]. Genetic analysis did not demonstrate mutations in the EMX2 homeobox gene. In these two patients, the possible role of CMV infection in the complex multifactorial pathogenesis of schizencephaly was therefore suggested. On this basis, we suggested an evaluation for CMV infection in patients with schizencephaly in whom genetic tests were not definitive. REFERENCES