scholarly journals Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury

Epilepsia ◽  
2010 ◽  
Vol 51 (12) ◽  
pp. 2440-2448 ◽  
Author(s):  
Pavel Krsek ◽  
Alena Jahodova ◽  
Bruno Maton ◽  
Prasanna Jayakar ◽  
Patricia Dean ◽  
...  
Keyword(s):  
Brain Injury ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Perinatal Brain Injury

scholarly journals Detection of brain somatic variation in epilepsy-associated developmental lesions

2021 ◽  
Author(s):  
Tracy A Bedrosian ◽  
Katherine E Miller ◽  
Olivia E Grischow ◽  
Hyojung Yoon ◽  
Kathleen M Schieffer ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Mapk Pathway ◽  
Focal Cortical Dysplasia ◽  
Somatic Mosaicism ◽  
Cortical Dysplasia ◽  
Disease Genes ◽  
Low Grade ◽  
Type I ◽  
Somatic Variation ◽  
Tissue Samples

Epilepsy-associated developmental lesions, including malformations of cortical development and low-grade developmental tumors, represent a major cause of drug-resistant seizures requiring surgical intervention in children. Brain-restricted somatic mosaicism has been implicated in the genetic etiology of these lesions; however, many contributory genes remain unidentified. We enrolled 50 children undergoing epilepsy surgery into a translational research study. We performed exome and RNA-sequencing of resected brain tissue samples to identify somatic variation. We uncovered candidate disease-causing somatic variation affecting 28 patients (56%), as well as candidate germline variants affecting 4 patients (8%). We confirmed somatic findings using high-depth targeted DNA sequencing. In agreement with previous studies, we identified somatic variation affecting SLC35A2 and MTOR pathway genes in patients with focal cortical dysplasia. Somatic gains of chromosome 1q were detected in 30% (3 of 10) Type I FCD patients. Somatic variation of MAPK pathway genes (i.e., FGFR1, FGFR2, BRAF, KRAS) was associated with low-grade epilepsy-associated developmental tumors. Somatic structural variation accounted for over one-half of epilepsy-associated tumor diagnoses. Sampling across multiple anatomic regions revealed that somatic variant allele fractions vary widely within epileptogenic tissue. Finally, we identified putative disease-causing variants in genes (EEF2, NAV2, PTPN11) not yet associated with focal cortical dysplasia. These results further elucidate the genetic basis of structural brain abnormalities leading to focal epilepsy in children and point to new candidate disease genes.

MRI Findings in Low Grade Tumours Associated with Focal Cortical Dysplasia

2012 ◽  
Vol 25 (6) ◽  
pp. 639-648 ◽  
Author(s):  
A. Tarsi ◽  
A.F. Marliani ◽  
F. Bartiromo ◽  
M. Giulioni ◽  
G. Marucci ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Mri Findings

Intraoperative acquisition of DTI in cranial neurosurgery: readout-segmented DTI versus standard single-shot DTI

2020 ◽  
Vol 133 (4) ◽  
pp. 1210-1219 ◽  
Author(s):  
Cameron A. Elliott ◽  
Hayden Danyluk ◽  
Keith E. Aronyk ◽  
Karolyn Au ◽  
B. Matt Wheatley ◽  
...  
Keyword(s):  
Diffusion Tensor ◽  
Focal Cortical Dysplasia ◽  
High Grade Glioma ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Single Shot ◽  
Planar Imaging ◽  
Susceptibility Artifact ◽  
Echo Planar ◽  
Diffusion Tensor Imaging Dti

OBJECTIVEDiffusion tensor imaging (DTI) tractography is commonly used in neurosurgical practice but is largely limited to the preoperative setting. This is due primarily to image degradation caused by susceptibility artifact when conventional single-shot (SS) echo-planar imaging (EPI) DTI (SS-DTI) is acquired for open cranial, surgical position intraoperative DTI (iDTI). Readout-segmented (RS) EPI DTI (RS-DTI) has been reported to reduce such artifact but has not yet been evaluated in the intraoperative MRI (iMRI) environment. The authors evaluated the performance of RS versus SS EPI for DTI of the human brain in the iMRI setting.METHODSPre- and intraoperative 3-T 3D T1-weighted and 2D multislice RS-iDTI (called RESOLVE [readout segmentation of long variable echo-trains] on the Siemens platform) and SS-iDTI images were acquired in 22 adult patients undergoing intraaxial iMRI resections for suspected low-grade glioma (14; 64%), high-grade glioma (7; 32%), or focal cortical dysplasia. Regional susceptibility artifact, anatomical deviation relative to T1-weighted imaging, and tractographic output for surgically relevant tracts were compared between iDTI sequences as well as the intraoperative tract shifts from preoperative DTI.RESULTSRS-iDTI resulted in qualitatively less regional susceptibility artifact (resection cavity, orbitofrontal and anterior temporal cortices) and mean anatomical deviation in regions most prone to susceptibility artifact (RS-iDTI 2.7 ± 0.2 vs SS-iDTI 7.5 ± 0.4 mm) compared to SS-iDTI. Although tract reconstruction success did not significantly differ by DTI method, susceptibility artifact–related tractography failure (of at least 1 surgically relevant tract) occurred for SS-iDTI in 8/22 (36%) patients, and in 5 of these 8 patients RS-iDTI permitted successful reconstruction. Among cases with successful tractography for both sequences, maximal intersequence differences were substantial (mean 9.5 ± 5.7 mm, range −27.1 to 18.7 mm).CONCLUSIONSRS EPI enables higher quality and more accurate DTI for surgically relevant tractography of major white matter tracts in intraoperative, open cranium neurosurgical applications at 3 T.

scholarly journals Mutant BRAF in low‐grade epilepsy‐associated tumors and focal cortical dysplasia

2014 ◽  
Vol 1 (2) ◽  
pp. 130-134 ◽  
Author(s):  
Gianluca Marucci ◽  
Dario Biase ◽  
Michela Visani ◽  
Marco Giulioni ◽  
Matteo Martinoni ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Associated Tumors ◽  
Mutant Braf

scholarly journals P.034 Focal cortical dysplasia type IIIb associated with oligodendroglioma in a seizure free patient: a case report

2017 ◽  
Vol 44 (S2) ◽  
pp. S22-S22
Author(s):  
MA MacLean ◽  
AS Easton ◽  
GE Pickett
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Who Grade ◽  
Type Iiib ◽  
Malformation Of Cortical Development ◽  
Grade Ii ◽  
Pathologic Analysis ◽  
The Right ◽  
International League

Background: Focal cortical dysplasia (FCD) refers to malformation of cortical development featuring abnormalities of cortical layering, neuronal differentiation and maturation. It is a common cause of medically refractory epilepsy. The coexistence of FCD and low-grade glial neoplasms such as ganglioglioma and dysembryoplastic neuroepithelial tumour is classified by the International League Against Epilepsy as “FCD Type IIIb”. We present a case of FCD Type IIIb associated with low grade oligodendroglioma (WHO grade II) in a seizure free patient. Methods: A 20-year-old male presented with suspected arteriovenous malformation of the right pinna. Imaging revealed an incidental right frontal lobe mass. Surgical resection was performed. Pathologic analysis revealed FCD Type IIIb associated with low grade oligodendroglioma (WHO grade II). Results: The patient recovered uneventfully. Only 4 prior cases of FCD Type IIIb associated with oligodendroglioma have been reported. This is the first reported case of FCD Type IIIb discovered incidentally in a seizure free patient. Conclusions: FCD Type IIIb associated with oligodendroglioma is rare. The mechanism(s) by which glioneuronal neoplasms and perilesional cortical tissue jointly contribute to epileptogenicity have not been clearly defined. There may be a reduced risk of seizures with oligodendroglioma rather than tumors with a neuronal component.

Angiocentric Glioma: A Clinicopathologic Review of 5 Tumors With Identification of Associated Cortical Dysplasia

2011 ◽  
Vol 135 (8) ◽  
pp. 1037-1041 ◽  
Author(s):  
Trent Marburger ◽  
Richard Prayson
Keyword(s):  
Growth Pattern ◽  
Focal Cortical Dysplasia ◽  
Cortical Development ◽  
Temporal Cortex ◽  
Cortical Dysplasia ◽  
Low Grade ◽  
Type I ◽  
Clinicopathologic Features ◽  
Malformation Of Cortical Development ◽  
Angiocentric Glioma

Context.—Angiocentric glioma is a rare, epilepsy-associated, low-grade neoplasm with a characteristic perivascular growth pattern. Objective.—To describe the clinicopathologic features of 5 angiocentric gliomas and to evaluate for coexistent malformation of cortical development/cortical dysplasia. Design.—Retrospective review of the clinicopathologic features of 5 angiocentric gliomas (3 males and 2 females; median age at surgery, 10 years; range, 3–19 years). Results.—Seizures were the most common presenting symptom (n  =  4); 1 patient presented with headaches. Four of the tumors were located in the parieto-occipital, parietal, or temporal cortex and 1 case arose in the thalamus. All tumors consisted of an angiocentric growth pattern of bipolar spindle cells with mild pleomorphism. Three tumors also demonstrated a focal solid growth pattern. Evidence of adjacent malformation of cortical development/focal cortical dysplasia was observed in 4 of 4 cases with sufficient tissue for evaluation; all were Palmini et al type I lesions (type IA, n  =  1; type IB, n  =  3). All patients were alive at last known follow-up (17–131 months). Conclusions.—The thalamic location of 1 tumor represents an undescribed location for this typically superficial cortical tumor. A subset of angiocentric gliomas, similar to other low-grade chronic epilepsy-related tumors of childhood, are associated with coexistent malformation of cortical development, suggesting a developmental basis to their origin.

Reorganization of the primary somatosensory area in epilepsy associated with focal cortical dysplasia

2001 ◽  
Vol 42 (12) ◽  
pp. 839 ◽  
Author(s):  
Kenjiro Gondo ◽  
Ryutaro Kira ◽  
Yoichi Tokunaga ◽  
Chie Harashima ◽  
Shozo Tobimatsu ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Somatosensory Area

Utility of depth electrode placement in the neurosurgical management of bottom-of-sulcus lesions: technical note

2019 ◽  
Vol 24 (3) ◽  
pp. 284-292
Author(s):  
Eisha A. Christian ◽  
Elysa Widjaja ◽  
Ayako Ochi ◽  
Hiroshi Otsubo ◽  
Stephanie Holowka ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Focal Cortical Dysplasia ◽  
Target Identification ◽  
Cortical Dysplasia ◽  
Technical Note ◽  
Electrode Placement ◽  
Electrode Implantation ◽  
Depth Electrodes ◽  
Intracranial Electrode ◽  
The Brain

OBJECTIVESmall lesions at the depth of the sulcus, such as with bottom-of-sulcus focal cortical dysplasia, are not visible from the surface of the brain and can therefore be technically challenging to resect. In this technical note, the authors describe their method of using depth electrodes as landmarks for the subsequent resection of these exacting lesions.METHODSA retrospective review was performed on pediatric patients who had undergone invasive electroencephalography with depth electrodes that were subsequently used as guides for resection in the period between July 2015 and June 2017.RESULTSTen patients (3–15 years old) met the criteria for this study. At the same time as invasive subdural grid and/or strip insertion, between 2 and 4 depth electrodes were placed using a hand-held frameless neuronavigation technique. Of the total 28 depth electrodes inserted, all were found within the targeted locations on postoperative imaging. There was 1 patient in whom an asymptomatic subarachnoid hemorrhage was demonstrated on postprocedural imaging. Depth electrodes aided in target identification in all 10 cases.CONCLUSIONSDepth electrodes placed at the time of invasive intracranial electrode implantation can be used to help localize, target, and resect primary zones of epileptogenesis caused by bottom-of-sulcus lesions.

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