Hemispheric malformations of cortical development
Ajay Gupta1, Mar Carreño, Elaine Wyllie
1Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH 44195, USA. guptaa1@ccf.org
Insights
Hemispheric malformations of cortical development (MCDs) cause severe childhood epilepsy. Early diagnosis and surgical treatment offer the best outcomes for seizure control and cognitive development.
Area of Science:
- Neurology
- Developmental Biology
- Genetics
Background:
- Hemispheric malformations of cortical development (MCDs) are congenital conditions affecting one cerebral hemisphere.
- These malformations often manifest in early childhood with severe symptoms like intractable epilepsy, cognitive delay, and hemiparesis.
Purpose of the Study:
- To review the developmental and genetic mechanisms underlying hemispheric MCDs.
- To outline the pathological features, diagnostic approaches, and treatment strategies for hemispheric MCDs.
- To emphasize the importance of early identification and surgical candidacy for children with these conditions.
Main Methods:
- Review of existing literature on hemispheric malformations of cortical development.
- Discussion of diagnostic criteria and genetic analysis in hemispheric MCDs.
- Analysis of treatment outcomes, particularly epilepsy surgery.
Main Results:
- Hemispheric MCDs are significant causes of catastrophic childhood epilepsy.
- Early surgical intervention can lead to seizure freedom and improved cognitive function.
- Accurate genetic diagnosis is crucial for family counseling and genetic testing.
Conclusions:
- Hemispheric MCDs require a multidisciplinary approach for optimal management.
- Timely surgical intervention is a key treatment modality for eligible pediatric patients.
- Understanding genetic and developmental pathways is vital for advancing treatment strategies.
Abstract:
The term hemispheric malformations of cortical development (MCDs) is used in this article to represent congenital malformations that predominantly or exclusively involve complete or substantial portion of one cerebral hemisphere. Hemispheric MCDs usually present during early childhood with intractable epilepsy, cognitive delay, and contralateral hemiparesis. Early identification and selection of children who may be candidates for epilepsy surgery are important during diagnostic evaluation of hemispheric MCD. Surgical intervention at an appropriate time, whenever possible, offers the best chance for seizure freedom and improved cognitive outcome. In addition, making an accurate genetic diagnosis is imperative to offer genetic testing and counseling to the family. In this article, the authors discuss the developmental and genetic mechanisms, pathologic features, diagnosis, and treatment of hemispheric MCD that are substrates of catastrophic childhood epilepsy amenable to surgical treatment.
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