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Focal Cortical Dysplasia Type Ⅲ Related Medically Refractory Epilepsy: MRI Findings and Potential Predictors of Surgery Outcome.

ABSTRACT: This study aims to explore the relationship between neuropathologic and the post-surgical prognosis of focal cortical dysplasia (FCD) typed-Ⅲ-related medically refractory epilepsy. A total of 266 patients with FCD typed-Ⅲ-related medically refractory epilepsy were retrospectively studied. Presurgical clinical data, type of surgery, and postsurgical seizure outcome were analyzed. The minimum post-surgical follow-up was 1 year. A total of 266 patients of FCD type Ⅲ were included in this study and the median follow-up time was 30 months (range, 12~48 months). Age at onset ranged from 1.0 years to 58.0 years, with a median age of 12.5 years. The number of patients under 12 years old was 133 (50%) in patients with FCD type Ⅲ. A history of febrile seizures was present in 42 (15.8%) cases. In the entire postoperative period, 179 (67.3%) patients were seizure-free. Factors with p < 0.15 in univariate analysis, such as age of onset of epilepsy (p = 0.145), duration of epilepsy (p = 0.004), febrile seizures (p = 0.150), being MRI-negative (p = 0.056), seizure type (p = 0.145) and incomplete resection, were included in multivariate analysis. Multivariate analyses revealed that MRI-negative findings of FCD (OR 0.34, 95% CI 0.45-0.81, p = 0.015) and incomplete resection (OR 0.12, 95% CI 0.05-0.29, p < 0.001) are independent predictors of unfavorable seizure outcomes. MRI-negative finding of FCD lesions and incomplete resection were the most important predictive factors for poor seizure outcome in patients with FCD type Ⅲ.

SUBMITTER: Wang X

PROVIDER: S-EPMC8699898 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:OBJECTIVE:Focal cortical dysplasia (FCD) lesion detection and subtyping remain challenging on conventional MRI. New diffusion models such as the spherical mean technique (SMT) and neurite orientation dispersion and density imaging (NODDI) provide measurements that potentially produce more specific maps of abnormal tissue microstructure. This study aims to assess the SMT and NODDI maps for computational and radiological lesion characterization compared to standard fractional anisotropy (FA) and mean diffusivity (MD). METHODS:SMT, NODDI, FA, and MD maps were calculated for 33 pediatric patients with suspected FCD (18 histologically confirmed). Two neuroradiologists scored lesion visibility on clinical images and diffusion maps. Signal profile changes within lesions and homologous regions were quantified using a surface-based approach. Diffusion parameter changes at multiple cortical depths were statistically compared between FCD type IIa and type IIb. RESULTS:Compared to fluid-attenuated inversion recovery (FLAIR) or T1-weighted imaging, lesions conspicuity on NODDI intracellular volume fraction (ICVF) maps was better/equal/worse in 5/14/14 patients, respectively, while on SMT intra-neurite volume fraction (INVF) in 3/3/27. Compared to FA or MD, lesion conspicuity on the ICVF was better/equal/worse in 27/4/2, while on the INVF in 20/7/6. Quantitative signal profiling demonstrated significant ICVF and INVF reductions in the lesions, whereas SMT microscopic mean, radial, and axial diffusivities were significantly increased. FCD type IIb exhibited greater changes than FCD type IIa. No changes were detected on FA or MD profiles. SIGNIFICANCE:FCD lesion-specific signal changes were found in ICVF and INVF but not in FA and MD maps. ICVF and INVF showed greater contrast than FLAIR in some cases and had consistent signal changes specific to FCD, suggesting that they could improve current presurgical pediatric epilepsy imaging protocols and can provide features useful for automated lesion detection.

Project description:BackgroundFocal cortical dysplasia (FCD) is a malformation of cortical development that causes medical refractory seizures, and one of the main treatments may be surgical resection of the affected area of the brain. People affected by FCD may present with seizures of variable severity since childhood. Despite many medical treatments available, only surgery can offer cure. The pathophysiology of the disease is not yet understood; however, it is known that several gene alterations may play a role. The WNT/β-catenin pathway is closely related to the control and balance of cell proliferation and differentiation in the central nervous system. The aim of this study was to explore genes related to the WNT/β-catenin pathway in lesional and perilesional brain tissue in patients with FCD type II.MethodsDysplastic and perilesional tissue from the primary dysplastic lesion of patients with FCD type IIa were obtained from two patients who underwent surgical treatment. The analysis of the relative expression of genes was performed by a qRT-PCR array (super array) containing 84 genes related to the WNT pathway.ResultsOur results suggest the existence of molecular alteration in some genes of the WNT pathway in tissue with dysplastic lesions and of perilesional tissue. We call this tissue of normal-appearing adjacent cortex (NAAC). Of all genes analyzed, a large number of genes show similar behavior between injured, perilesional and control tissues. However, some genes have similar characteristics between the perilesional and lesional tissue and are different from the control brain tissue, presenting the perilesional tissue as a molecularly altered material.ConclusionOur results suggest that the perilesional area after surgical resection of tissue with cortical dysplasia presents molecular changes that may play a role in the recurrence of seizures in these patients. The perilesional tissue should receive expanded attention beyond the somatic mutations described and associated with FCD, such as mTOR, for example, to new signaling pathways that may play a crucial role in seizure recurrence.

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Focal Cortical Dysplasia Type Ⅲ Related Medically Refractory Epilepsy: MRI Findings and Potential Predictors of Surgery Outcome.

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