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[A case of pachygyria with cystic changes in the periventricular white matter and putamen]
A Okumura1, F Hayakawa, K Kuno
1Department of Pediatrics, Anjo Kosei Hospital, Aichi.
Insights
This case study details a rare form of lissencephaly/pachygyria with severe neonatal seizures and developmental delay. Pathological findings suggest secondary destructive lesions caused by frequent seizures.
Area of Science:
- Neuroscience
- Developmental Biology
- Pathology
Background:
- Lissencephaly/pachygyria is a brain malformation characterized by a smooth cerebral cortex.
- Neonatal seizures and severe developmental delay are common in affected infants.
Observation:
- A case of Type I lissencephaly/pachygyria presented with refractory neonatal seizures and profound developmental retardation.
- Imaging revealed cystic changes in periventricular white matter and lentiform nuclei, alongside diffuse pachygyria and agenesis of the corpus callosum.
Findings:
- Postmortem examination confirmed Type I lissencephaly/pachygyria, agenesis of the corpus callosum, leptomeningeal glioneuronal heterotopia, and hypoplastic corticospinal tracts.
- Cystic lesions showed marked gliosis and CD68-positive macrophages, indicating secondary destructive processes.
Implications:
- The findings suggest that frequent seizures may lead to secondary destructive lesions in specific brain regions due to compromised blood and glucose supply.
- This highlights the critical impact of seizure activity on brain development and integrity in lissencephaly/pachygyria.
Abstract:
We reported a case of type I lissencephaly/pachygyria which had cystic changes in the periventricular white matter and lentiform nuclei. The patient developed neonatal seizures and was referred to Anjo Kosei Hospital His seizures were frequent and refractory to anticonvulsants. His development was severely retarded. CT and MRI revealed cystic changes in the periventricular white matter and lentiform nuclei as well as bilateral diffuse pachygyria and agenesis of corpus callosum. He died of unknown cause at 5 months of age and postmortem examination was performed. Type I lissencephaly/pachygyria, almost complete agenesis of corpus callosum, leptomeningeal glioneuronal heterotopia and hypoplasia of corticospinal tract were seen pathologically. Marked gliosis and CD 68 positive macrophages were found around the cystic lesions in the periventricular white matter and lentiform nuclei, which suggests that these lesions were the secondarily destructive lesion. We considered that these secondary lesions were due to frequent seizures which could cause insufficient supply of blood and glucose in those areas.