Focal cortical dysplasia treatment [Neurosurgery Wiki]

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====== Focal cortical dysplasia treatment ======

{{rss>https://pubmed.ncbi.nlm.nih.gov/rss/search/1zOrwYPa_1RW6iiE5A4hj0Ea4eeZ3wdKLUHIQlKfR8xdaRMs_P/?limit=15&utm_campaign=pubmed-2&fc=20250226025949}}
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A leading cause of surgically remediable, drug-resistant [[focal epilepsy]] is [[focal cortical dysplasia]] (FCD). 

Proof of a specific effect of [[antiepileptic drug]]s (AEDs) in [[Focal cortical dysplasia]] (FCD) is lacking. Pathogenic mutations recently described in mammalian target of rapamycin (mTOR) genes in FCD have yielded important insights into novel treatment options with [[mTOR inhibitor]]s, which might represent an example of personalized treatment of epilepsy based on the known mechanisms of disease. The [[ketogenic diet]] (KD) has been demonstrated to be particularly effective in children with epilepsy caused by structural abnormalities, especially FCD. It attenuates epigenetic chromatin modifications, a master regulator for gene expression and functional adaptation of the cell, thereby modifying disease progression. This could imply the lasting benefit of dietary manipulation. [[Neurostimulation]] techniques have produced variable clinical outcomes in FCD. In widespread dysplasias, [[vagus nerve stimulation]] (VNS) has achieved responder rates >50%; however, the efficacy of noninvasive cranial nerve stimulation modalities such as transcutaneous VNS (tVNS) and noninvasive (nVNS) requires further study
((Guerrini R, Duchowny M, Jayakar P, Krsek P, Kahane P, Tassi L, Melani F, Polster T, Andre VM, Cepeda C, Krueger DA, Cross JH, Spreafico R, Cosottini M, Gotman J, Chassoux F, Ryvlin P, Bartolomei F, Bernasconi A, Stefan H, Miller I, Devaux B, Najm I, Giordano F, Vonck K, Barba C, Blumcke I. Diagnostic methods and treatment options for focal cortical dysplasia. Epilepsia. 2015 Nov;56(11):1669-86. doi: 10.1111/epi.13200. Epub 2015 Oct 5. PMID: 26434565.)).

===== Surgery =====

When medication fails to control seizures or when the seizures severely impact a person's quality of life, surgery may be considered as a treatment option. Here's an overview of Focal Cortical Dysplasia surgery:

Pre-surgical Evaluation: Before considering surgery, a thorough evaluation is necessary. This typically includes detailed neurological assessments, imaging studies like MRI scans, video EEG monitoring to identify the location of the seizures, and neuropsychological testing to assess cognitive function.

Localization of FCD: The most crucial step is pinpointing the exact location of the dysplastic tissue causing seizures. This is essential to plan a precise surgical approach.

Surgical Options:

[[Resection for focal cortical dysplasia treatment]].

===== Non-invasive treatment =====

Experiments conducted with mammals detailing rapamycin gene mutations in FCD have produced vital information for exploring treatment options using mTOR inhibitors. Of note is the importance of KD in children with FCD. This diet has been shown to modify disease progression by attenuating chromatin modification, a master regulator for gene expression and functional adaptation of the cell. FCD has also been studied widely with neurostimulation techniques. The outcomes of these techniques have been found to be variable. For widespread dysplasias, VNS has been shown to produce responder rates of >50%. Nevertheless, non-invasive cranial nerve stimulation techniques such as transcutaneous VNS and non-invasive VNS are gaining better patient compatibility, albeit their efficacy remains to be established
((Wang TT, Zhou D. Non-invasive treatment options for focal cortical dysplasia. 
Exp Ther Med. 2016 May;11(5):1537-1541. Epub 2016 Feb 22. PubMed PMID: 27168769; 
PubMed Central PMCID: PMC4840718.
)).


===== Outcome =====
MR-negative and positive FCD patients had a comparable surgical prognosis, suggesting that comprehensive presurgical evaluations, including multimodal neuroimaging studies, are crucial for obtaining excellent surgical outcomes even in epilepsy patients with MR-negative FCD
((Seong MJ, Choi SJ, Joo EY, Shon YM, Seo DW, Hong SB, Hong SC. Surgical outcome and prognostic factors in epilepsy patients with MR-negative focal cortical dysplasia. PLoS One. 2021 Apr 14;16(4):e0249929. doi: 10.1371/journal.pone.0249929. PMID: 33852634.)).