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.
MeSH terms
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Brain / diagnostic imaging
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Brain / pathology
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Calcinosis / diagnostic imaging
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Cerebral Cortex / abnormalities*
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Cerebral Cortex / virology*
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Cytomegalovirus / genetics
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Cytomegalovirus Infections / complications*
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Cytomegalovirus Infections / virology
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DNA / genetics
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DNA, Viral / analysis
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Ependyma / diagnostic imaging
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Genes, Homeobox / genetics
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Homeodomain Proteins / genetics
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Humans
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Infant
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Magnetic Resonance Imaging
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Male
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Mutation
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Nerve Tissue Proteins / genetics
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Polymorphism, Single-Stranded Conformational
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Tomography, X-Ray Computed
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Transcription Factors
Substances
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DNA, Viral
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Homeodomain Proteins
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Nerve Tissue Proteins
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Transcription Factors
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empty spiracles homeobox proteins
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DNA