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Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex
P D Griffiths1, S A Gardner, M Smith
1Academic Department of Radiology, University of Sheffield, UK.
AJNR. American Journal of Neuroradiology
|January 5, 1999
Insights
This study details two children with tuberous sclerosis complex, presenting unusual brain malformations like hemimegalencephaly and focal megalencephaly. These findings contribute to understanding complex cortical malformations in this genetic disorder.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the growth of noncancerous tumors in various organs, including the brain.
- Intracranial manifestations in TSC commonly include tubers and subependymal giant cell astrocytomas.
- Cortical malformations represent a spectrum of developmental abnormalities in brain structure.
Observation:
- Two pediatric cases with TSC exhibited complex cortical malformations beyond typical intracranial findings.
- One child presented with hemimegalencephaly, a condition of unilateral brain overgrowth.
- The second child displayed extensive focal megalencephaly, indicating localized brain enlargement.
Findings:
- The observed malformations, hemimegalencephaly and focal megalencephaly, represent significant deviations from typical TSC-related brain abnormalities.
- These cases highlight the diverse range of cortical malformations that can occur in TSC.
- The specific patterns of malformation provide insights into the underlying developmental processes disrupted in TSC.
Implications:
- These findings expand the understanding of the phenotypic variability in TSC, particularly concerning cortical development.
- The cases prompt a re-evaluation of current concepts regarding the pathogenesis of cortical malformations in TSC.
- Further research into the genetic and molecular mechanisms underlying these complex malformations is warranted for improved diagnosis and potential therapeutic strategies.
Abstract:
We describe two children with complex cortical malformations as well as the typical intracranial manifestations of tuberous sclerosis complex. One child had hemimegalencephaly and the other had extensive focal megalencephaly. These cases are discussed in terms of the current concepts of cortical malformations.