Related Experiment Videos
Cytomegalovirus infection and schizencephaly: case reports
P Iannetti1, G Nigro, A Spalice
1Child Neurology Division, University La Sapienza, Rome, Italy.
Abstract:
Two children with left open-lip schizencephaly are reported. Cytomegalovirus (CMV) infection was demonstrated on the second day of life in Patient 1; in the other patient CMV infection was observed at the age of 4 years. Magnetic resonance imaging revealed polymicrogyric cortex lining the clefts. In Patient 2 polymicrogyria was also present in the corresponding area contralateral to the schizencephaly. Computed tomography revealed the presence of subependymal periventricular calcifications. Genetic analysis did not demonstrate the presence of EMX2 homeobox gene. The possible role of CMV infection in the complex multifactorial pathogenesis of schizencephaly is therefore suggested.
Insights
Cytomegalovirus (CMV) infection may play a role in schizencephaly development. This study suggests CMV infection could be a factor in this rare congenital brain malformation.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Background:
- Schizencephaly is a rare congenital brain malformation characterized by a cleft in the cerebral hemisphere.
- The etiology of schizencephaly is complex and often multifactorial, involving genetic and environmental factors.
- Previous research has explored genetic mutations, such as in the EMX2 gene, as potential causes.
Observation:
- Two pediatric cases of open-lip schizencephaly were analyzed.
- Cytomegalovirus (CMV) infection was identified in both patients, diagnosed on day 2 of life in one and at 4 years old in the other.
- Neuroimaging revealed polymicrogyric cortex lining the schizencephalic clefts, with additional polymicrogyria in the contralateral hemisphere in one patient.
- Subependymal periventricular calcifications were noted on computed tomography scans.
Findings:
- Genetic analysis for the EMX2 homeobox gene was negative in both reported cases.
- The presence of Cytomegalovirus (CMV) infection, particularly early-onset, alongside characteristic imaging findings, was observed.
- The imaging findings included polymicrogyria and periventricular calcifications, which can be associated with congenital infections.
Implications:
- The findings suggest a potential role for Cytomegalovirus (CMV) infection in the pathogenesis of schizencephaly.
- CMV infection may be a contributing factor in cases of schizencephaly where known genetic causes are absent.
- Further research is warranted to elucidate the mechanisms by which CMV infection might influence brain development and lead to schizencephaly.