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Lissencephaly-pachygyria associated with congenital cytomegalovirus infection
J C Hayward1, D S Titelbaum, R R Clancy
1Division of Neurology, Children's Hospital of Philadelphia, PA 19104.
Insights
Congenital cytomegalovirus (CMV) infection can cause severe brain developmental issues, including major cerebral migrational defects like lissencephaly-pachygyria. Advanced imaging like MRI helps identify these severe neurological abnormalities in infants.
Area of Science:
- Neuroscience
- Pediatric Neurology
- Infectious Diseases
Background:
- Congenital cytomegalovirus (CMV) infection is a common cause of non-genetic sensorineural hearing loss and developmental delay.
- Neurologic sequelae of congenital CMV infection typically include psychomotor retardation, cerebral palsy, and epilepsy.
- Previous reports have described polymicrogyria and periventricular calcifications as common findings.
Purpose of the Study:
- To report severe cerebral migrational abnormalities in infants with congenital CMV infection.
- To characterize the neuroradiologic features of these severe defects.
- To highlight the utility of MRI in diagnosing these conditions.
Main Methods:
- Case series of five severely handicapped children with congenital CMV infection.
- Utilized computed tomographic (CT) scans and magnetic resonance imaging (MRI) for neuroradiologic assessment.
- Diagnosed congenital CMV infection based on clinical signs, serology, and viral isolation.
Main Results:
- All five patients exhibited major cerebral migrational defects, consistent with lissencephaly-pachygyria spectrum.
- Neuroradiologic findings included broad gyri, shallow sulci, incomplete opercularization, ventriculomegaly, and periventricular calcifications.
- MRI provided superior definition of gyral and white-matter abnormalities compared to CT.
Conclusions:
- Congenital CMV infection can lead to extremely severe central nervous system migrational abnormalities.
- These severe defects may be more common than previously recognized.
- MRI is crucial for accurate diagnosis and characterization of these severe neurologic outcomes.
Abstract:
We report the presence of major cerebral migrational defects in five severely, multiply handicapped children with congenital cytomegalovirus (CMV) infection. These patients had both computed tomographic (CT) scan and magnetic resonance imaging (MRI) evidence of marked migrational central nervous system defects consistent anatomically with the spectrum of lissencephaly-pachygyria, a disorder commonly idiopathic or associated with chromosomal abnormalities or with unknown early gestational insults. Neuroradiologic features included broad, flat gyri, shallow sulci, incomplete opercularization, ventriculomegaly, periventricular calcifications, and white-matter hypodensity on CT scans or increased signal intensity on long-TR MRI scans. Evidence for congenital CMV infection included prenatal onset of microcephaly, periventricular calcifications, neonatal jaundice, hepatomegaly, elevated CMV-specific immunoglobulin M, or viral isolation from urine. Previous reports of the neurologic sequelae of CMV have emphasized varying degrees of psychomotor retardation, cerebral palsy and epilepsy due to polymicrogyria, periventricular calcification, microcephaly, or rarely, hydrocephalus. Our patients appear to represent extremely severe examples of the effects of CMV on neurologic growth, maturation, and development. Recognition of these severe migrational abnormalities was improved by use of MRI, a technique that affords superior definition of the nature and extent of gyral and white-matter abnormalities. We suggest that these abnormalities may be more common than has previously been recognized.