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The histopathology of polymicrogyria: a series of 71 brain autopsy studies
Anna C Jansen1,2, Yves Robitaille3, Mrinalini Honavar4,5
1Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.
Aim:
Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases.
Method:
We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or diffusely replaced by one or more festooning bands of neurons.
Results:
The pial surface of the brain overlying the polymicrogyric cortex was abnormal in almost 90% of cases irrespective of the aetiology. This accords with animal studies indicating the importance of the leptomeninges in cortical development. The aetiology of PMG was highly heterogeneous and there was no correlation between cortical layering patterns and aetiology. PMG was almost always associated with other brain malformations.
Interpretation:
The inclusion of many fetal cases has allowed us to examine the early developmental stages of PMG. The study indicates the significance of surface signals responsible for human corticogenesis and the complex interaction between genetic and environmental factors leading to this common endpoint of cortical maldevelopment.
Insights
Polymicrogyria (PMG), a common brain malformation, often involves abnormal brain surfaces and is linked to other developmental issues. Its development involves complex genetic and environmental interactions affecting corticogenesis.
Area of Science:
- Neuroscience
- Developmental Biology
- Pathology
Background:
- Polymicrogyria (PMG) is a frequent cortical malformation with an unknown developmental mechanism.
- Understanding PMG pathogenesis is crucial for diagnosing and managing cortical malformations.
Purpose of the Study:
- To investigate the histopathological features of polymicrogyria (PMG) in a large cohort, including fetal cases.
- To explore the early developmental stages and potential etiological factors of PMG.
Main Methods:
- Neuropathological review and analysis of medical records from 44 fetuses and 27 children/adults with PMG.
- Examination of cortical architecture and associated brain malformations.
Main Results:
- Abnormalities of the pial surface were observed in nearly 90% of PMG cases, suggesting leptomeningeal involvement in cortical development.
- The etiology of PMG was diverse, with no clear link between specific cortical layering patterns and cause.
- PMG frequently co-occurred with other brain malformations.
Conclusions:
- Early examination of fetal cases provides insights into the developmental stages of PMG.
- Surface signals play a significant role in human corticogenesis, leading to PMG.
- PMG results from a complex interplay of genetic and environmental factors influencing brain development.
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