LGCmain
Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 1667
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size
REVIEW ARTICLE
Year : 2022  |  Volume : 65  |  Issue : 5  |  Page : 189-197

Focal cortical dysplasia: Updates


1 Department of Anatomic Pathology, Centro Hospitalar Universitário São João; Department of Pathology, Faculdade de Medicina da Universidade do Porto (FMUP), Alameda Prof. Hernâni Monteiro, Porto, Portugal
2 Department of Anatomic Pathology, Centro Hospitalar Universitário São João, Porto; Department of Anatomic Pathology, Hospital Pedro Hispano, Matosinhos, Portugal

Correspondence Address:
Mrinalini Honavar
Department of Anatomic Pathology, Hospital Pedro Hispano, Rua Dr. Eduardo Torres, 4464-513 Matosinhos
Portugal
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpm.ijpm_1226_21

Rights and Permissions

Focal cortical dysplasias (FCDs) represent the third most frequent cause of drug-resistant focal epilepsy in adults (after hippocampal sclerosis and tumours) submitted to surgery, and the most common in the pediatric age group. The International League Against Epilepsy (ILAE) classification of focal cortical dysplasia is still a reference and consists of a three-tiered system: FCD type I refers to isolated abnormalities in cortical layering; FCD type II refers to cases with abnormalities in cortical architecture and dysmorphic neurons with or without balloon cells; and FCD type III refers to abnormalities in cortical layering associated with other lesions. Recent studies have demonstrated that somatic mutations occurring post-zygotically during embryonal development and leading to mosaicism, underlie most brain malformations. The molecular pathogenesis of FCD type II is associated with activation of the mTOR pathway. Pathogenic variants in this pathway are recognized in up to 63% of cases and may occur both through single activating variants in activators of the mTOR signaling pathway or double-hit inactivating variants in repressors of the signaling pathway. The newly described mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy, has been found to show recurrent pathogenic variants in SLC35A2 with mosaicism. The present review describes the lesions of FCD and discusses the molecular pathogenesis and proposal for a revised classification.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed148    
    Printed4    
    Emailed0    
    PDF Downloaded9    
    Comments [Add]    

Recommend this journal