Prenatal and postnatal evaluation of polymicrogyria with band heterotopia
Usha D Nagaraj1,2, Robert Hopkin2,3, Mark Schapiro2,4
1Department of Radiology and Medical Imaging, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229-3026, USA.
Abstract:
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings. Polymicrogyria with band heterotopia can occur and can be diagnosed with fetal MRI. The coexistence of corpus callosum anomalies and megalencephaly comprises a rare phenotype that has been previously described, suggesting an underlying genetic abnormality.
Insights
This study reports a rare case of diffuse cortical malformation, including polymicrogyria and band heterotopia, diagnosed via fetal MRI. The findings highlight a unique combination of brain abnormalities and suggest a potential genetic cause.
Area of Science:
- Neuroimaging
- Developmental Neuroscience
- Genetics
Background:
- Band heterotopia and polymicrogyria are rare cortical malformations.
- Their coexistence is exceptionally uncommon, often associated with corpus callosum anomalies and megalencephaly.
Observation:
- Prenatal and postnatal MRI revealed diffuse cortical malformation with polymicrogyria and band heterotopia.
- Agenesis of the corpus callosum and megalencephaly were observed.
- Bilateral closed-lip schizencephaly was identified postnatally, a novel finding in this combination.
Findings:
- Polymicrogyria with band heterotopia can be diagnosed prenatally using fetal MRI.
- The co-occurrence of these malformations with corpus callosum anomalies and megalencephaly represents a rare phenotype.
Implications:
- This case expands the spectrum of known cortical malformations.
- The identified combination suggests a potential underlying genetic abnormality requiring further investigation.
- Early diagnosis via fetal MRI is crucial for management and genetic counseling.
