scholarly journals Problems of diagnosing focal cortical dysplasia

2021 ◽  
Vol 13 (1) ◽  
pp. 33-43
Author(s):  
K. D. Yakovleva ◽  
E. A. Kantemirova ◽  
D. V. Dmitrenko
Keyword(s):  
Clinical Case ◽  
Focal Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Epileptiform Activity ◽  
Epileptic Seizures ◽  
Cortical Dysplasia ◽  
Differential Diagnostics ◽  
Pharmacoresistant Epilepsy ◽  
Structural Epilepsy ◽  
Generalized Epilepsy

Focal cortical dysplasia (FCD) is one of the most common causes in developing pharmacoresistant epilepsy. We present the clinical case of the patient with generalized seizures. Routine electroencephalography (EEG) data registered diffuse epileptiform activity that allowed to diagnose genetic  eneralized epilepsy and pharmacoresistant course of seizures.After performing magnetic resonance imaging using the epileptological program and video-EEG-monitoring, the diagnosis was revised: structural focal epilepsy with seizures with  focal onset with oroalimentary, gesture automatisms in the right hand, bilateral tonic-clonic, uncompensated by levetiracetam monotherapy (1500 mg/day). Background disease: congenital  malformation of the brain: FCD in the basal parts of the left temporal lobe. Lacosamide was added to the therapy in the drug dose 300 mg/day, and the frequency of epileptic seizures decreased. Differential diagnosis between genetic generalized  epilepsy and structural epilepsy with FCD usually poses no  obstacles. However, in some cases, structural epilepsy occurs  under the “mask” of generalized epilepsy. Hence, this clinical  case demonstrates the importance of diagnostic measures in the  differential diagnostics of various forms of epilepsy to determine  further tactics of patient management. 

scholarly journals Particularities in differential diagnostics of epileptogenic brain malformations on the low-field MRI-device

2019 ◽  
Vol 13 (4) ◽  
pp. 23-39
Author(s):  
V. S. Khalilov ◽  
A. A. Kholin ◽  
B. R. Bakaeva ◽  
M. Yu. Bobylova ◽  
Kh. Sh. Gazdieva
Keyword(s):  
High Field ◽  
Focal Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Differential Diagnostics ◽  
High Field Mri ◽  
Low Field ◽  
Brain Malformations ◽  
Low Field Mri

Background.It has been suggested that the part of the cryptogenic epilepsies is a consequence of minor-foci disorders of cortical architectonics, the diagnosis of which is not always possible due to the unavailability of MR-scanners with high magnetic induction.Objective:determination of the best options of the low-field MRI-device for visualization of epileptogenic brain malformations in children with symptomatic focal forms of epilepsy.Materials and methods.Were analyzed MRI data of 24 children undergoing investigations regarding for difficult-to-treat or pharmacoresistant forms of focal epilepsy in the Department of Magnetic-Resonance Tomography, Central Children Clinical Hospital of FMB Agency  of Russia at 2015–2017. All the patients underwent brain MRI according to standard routine protocol. Simultaneously we review conclusions of epileptologist and the preliminary video-electroencefalographic monitoring data for determination of the optimal imaging protocol for every specific form of epilepsy. For imaging of the epileptogenic brain lesion the MRI study was conducted on open-ended device “Aperto” (Hitachi Ltd., Japan) of static magnetic field with the tension characteristics of 0.4 T. The thickness of the slices and the scan step was performed  at 3.0 and 3.5 mm (the maximum value of slice thickness and step due to the technical conditions of the used scanner without losing in signalto-noise ratio) with the use of special positioning of slices in the coronal and axial projections, T2, T1, STIR, FLAIR weighted images perpendicular and parallel to the long axis of the hippocampus.Results and conclusion.In 24 patients were revealed structural brain changes that have neuroradiological signs of brain malformations. In all the patients this changes were associated with difficult to treat and drug-resistant forms of focal epilepsy. The newly identified malformations were observed in 10 patients, and in 3 cases the changes detected after previous MRI (including high-field MRI-devices) whose results were false-negative. In 11 patients diffuse brain abnormalities had been revealed, including the combinations of several hypogenesis and dysplastic pathologies. In 13 patients were marked different types of hemispheric and regional disorders of cortical development including focal cortical dysplasia. Extensive unilateral and bilateral changes were clearly distinguishable on the routine MRI. The low-tension technique approximated to the epileptic scanning protocol in some cases allowed to assess the affected area and revealed the combination of different variants of pathological cortical organization. In 7 cases the preliminary diagnosis based on the results of previous MRI studies including high-field MRI-devices. In 2 of these patients this changes were minor-focal, not visualized according to the routine MRI protocol, and had the differentiation characteristics between focal cortical dysplasia IIb/dysembryoplastic neuroepithelial tumor/ganglioglioma types. Disappointing results of visualization of mesial-basal temporal lobe regions aimed to detect small-caliber intracortical formations were observed. These patients contained a separate group of 12 children for whom extensive investigation which includes high-field MRI scan protocol on epileptic program was recommended.

scholarly journals A case of mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE)

2021 ◽  
Vol 12 (3) ◽  
pp. 93-100
Author(s):  
V. S. Khalilov ◽  
A. N. Kislyakov ◽  
T. V. Basalay ◽  
A. V. Levov ◽  
A. A. Kholin
Keyword(s):  
White Matter ◽  
Frontal Lobe ◽  
Focal Cortical Dysplasia ◽  
Epileptiform Activity ◽  
Cortical Development ◽  
Dynamic Mri ◽  
Subtotal Resection ◽  
Pharmacoresistant Epilepsy ◽  
Malformation Of Cortical Development ◽  
The Right

Recently, in the scientist community of specialists dealing with structural epilepsy, it has been noticed an increasing interest in a special form of cortical development disorder not to be included in the ILAE Classification of the epilepsies the 2017 revision. It is so-called mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). There are a number of publications devoted to the neuroimaging features of MOGHE, which are possible to distinguish from other epileptogenic substrates in comparisons with clinical/anamnestic data and dynamic observation. Our paper describes the case of a patient under 6 years suffering from pharmacoresistant epilepsy with histologically confirmed MOGHE, and having undergone the procedure of epileptic surgery. MRI showed an increased intensity of the T2/FLAIR signal from the white matter in combination with signs of laminar hyperintensivity, regional sulcation disturbance, smoothness of gray-white matter demarcation in the right frontal lobe. A signal intensification from the white matter with the formation similarity of the «transmantl» sign and further pronounced smoothness of the gray-white matter demarcation was observed on dynamic MRI. These changes were estimated as focal cortical dysplasia. Pre-surgical examination revealed a correlation of epileptiform activity with MRI changes. The subtotal resection of the right frontal lobe and the morphological conclusion established the presence of MOGHE was performed.

Classification of seizures and epilepsy

2019 ◽  
pp. 935-944
Author(s):  
Andrew McEvoy ◽  
Tim Wehner ◽  
Victoria Wykes
Keyword(s):  
Focal Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Hippocampal Sclerosis ◽  
Epileptic Seizures ◽  
Recurrence Risk ◽  
Medical Emergency ◽  
Unprovoked Seizure ◽  
Generalized Seizures ◽  
The Brain

Epileptic seizures are transient neurologic alterations due to abnormal excessive or synchronous neuronal cerebral activity. They may cause subjective symptoms (aura), and objective autonomic, behavioural, or cognitive alterations in any combination. Focal seizures are initially generated in one circumscribed area in the brain, whereas generalized seizures involve bihemispheric neuronal networks from the seizure onset. Epilepsy is a brain disease defined by the occurrence of two unprovoked seizures more than 24 h apart or one unprovoked seizure with underlying pathological or genetic factors resulting in a similar recurrence risk. Focal epilepsy syndromes are best classified by aetiology or anatomical area of origin. A seizure that does not self-terminate results in status epilepticus, and constitutes a medical emergency that requires immediate treatment. Focal cortical dysplasia and hippocampal sclerosis are the commonest aetiologies of epilepsy amenable to surgical treatment and are reviewed here. The limbic pathway may be involved in seizure propagation, and the anatomy is described.

A longitudinal study of surgical outcome of pharmacoresistant epilepsy caused by focal cortical dysplasia

2016 ◽  
Vol 263 (12) ◽  
pp. 2403-2410 ◽  
Author(s):  
Bo Jin ◽  
Jing Wang ◽  
Jian Zhou ◽  
Shuang Wang ◽  
Yuguang Guan ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Surgical Outcome ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Pharmacoresistant Epilepsy

scholarly journals Contralateral insular epileptogenic hub causing seizure relapse after opercular focal cortical dysplasia surgery and response to radiofrequency thermocoagulation: illustrative case

2021 ◽  
Vol 2 (5) ◽  
Author(s):  
Pushkaran Jayapaul ◽  
Shameer Aslam ◽  
Bindhu Mangalath Rajamma ◽  
Siby Gopinath ◽  
Ashok Pillai
Keyword(s):  
Focal Cortical Dysplasia ◽  
Positron Emission Tomography Imaging ◽  
Cortical Dysplasia ◽  
Illustrative Case ◽  
Epileptogenic Zone ◽  
Pharmacoresistant Epilepsy ◽  
Novel Technique ◽  
Positron Emission ◽  
Seizure Relapse ◽  
The Right

BACKGROUND The reevaluation and management of seizure relapse following resective surgery in magnetic resonance imaging (MRI)-negative pharmacoresistant epilepsy remains a significant challenge. OBSERVATIONS A 25-year-old right-handed male with medically refractory epilepsy presented with nonlocalizing electroencephalography (EEG) and MRI. Stereo-EEG (SEEG) implantation based on semiology and positron emission tomography imaging revealed a left frontal opercular focus with rapid bilateral insular ictal synchrony. The initial epileptogenic zone was resected and pathologically proven to be type 2A focal cortical dysplasia (FCD). Seizure relapse after 9 months was eventually reinvestigated, and repeat SEEG revealed a secondary epileptogenic focus in the contralateral insula. A novel technique of volumetric stereotactic radiofrequency ablation (vRFA) was utilized for the right insular focus, following which, the patient remains seizure-free for 20 months. He suffered a transient bilateral opercular syndrome following the second intervention that eventually resolved. LESSONS The authors present clinical evidence to suggest epileptogenic nodes distant from the primary focus as a mechanism for seizure relapse following FCD surgery and the importance of bilateral insular SEEG coverage. The authors also describe a novel technique of minimally invasive vRFA that allows ablation of a larger volume of cerebral cortex when compared to conventional bedside SEEG electrode thermocoagulation.

Principles of Invasive EEG

2018 ◽  
pp. 19-25
Author(s):  
Samden D. Lhatoo ◽  
Nuria Lacuey ◽  
Philippe Ryvlin
Keyword(s):  
Temporal Lobe ◽  
Epilepsy Surgery ◽  
Focal Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia ◽  
Palliative Surgery ◽  
Mesial Temporal Sclerosis ◽  
Choice Of Technique ◽  
Inappropriate Choice

The growing requirement for invasive EEG in presurgical evaluation of intractable focal epilepsy has been driven largely by the increasing complexity of epilepsy surgery cases. Extratemporal surgeries now exceed anterior temporal lobe resections for mesial temporal sclerosis, and the proportion of patients undergoing invasive EEGs has significantly increased. Half of all patients undergoing stereotactic EEG (SEEG) evaluations are MRI-negative (usually with focal cortical dysplasia type 1 or 2) and a third are reoperations for failed resective or palliative surgery. Certain principles guide the decision to use invasive EEG and the choice of invasive EEG technique. SEEG has distinct advantages, as do subdural grid evaluations and intraoperative corticography. The consequences of loose hypotheses in the decision to invasively evaluate a patient, and of inappropriate choice of technique, include poor seizure outcomes after surgery, morbidity, and mortality. This chapter discusses the guiding principles for invasive studies of the human epileptic brain.

Dynamic Statistical Parametric Mapping for Analyzing the Magnetoencephalographic Epileptiform Activity in Patients With Epilepsy

2004 ◽  
Vol 19 (3) ◽  
pp. 363-369
Author(s):  
Hideaki Shiraishi ◽  
Steven M. Stufflebeam ◽  
Susanne Knake ◽  
Seppo P. Ahlfors ◽  
Akira Sudo ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Epileptiform Activity ◽  
Rapid Change ◽  
Statistical Parametric Mapping ◽  
Cortical Dysplasia ◽  
Parametric Mapping ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
L2 Norm ◽  
Patients With Epilepsy

Our current purpose is to evaluate the applicability of dynamic statistical parametric mapping, a novel method for localizing epileptiform activity recorded with magnetoencephalography in patients with epilepsy. We report four pediatric patients with focal epilepsies. Magnetoencephalographic data were collected with a 306-channel whole-head helmet-shaped sensor array. We calculated equivalent current dipoles and dynamic statistical parametric mapping movies of the interictal epileptiform discharges that were based in the minimum-L2 norm estimate, minimizing the square sum of the dipole element amplitudes. The dynamic statistical parametric mapping analysis of interictal epileptiform discharges can demonstrate the rapid change and propagation of interical epileptiform discharges. According to these findings, specific epileptogenic lesion—focal cortical dysplasia could be found and patients could be operated on successfully. The presurgical analysis of interictal epileptiform discharges using dynamic statistical parametric mapping seems to be promising in patients with a possible underlying focal cortical dysplasia and might help to guide the placement of invasive electrodes. ( J Child Neurol 2005;20:363—369).

scholarly journals Seven tesla MRI improves detection of focal cortical dysplasia in patients with refractory focal epilepsy

2017 ◽  
Vol 2 (2) ◽  
pp. 162-171 ◽  
Author(s):  
Tim J. Veersema ◽  
Cyrille H. Ferrier ◽  
Pieter van Eijsden ◽  
Peter H. Gosselaar ◽  
Eleonora Aronica ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Focal Cortical Dysplasia ◽  
Cortical Dysplasia

scholarly journals Past Trauma Is Associated With a Higher Risk of Experiencing an Epileptic Seizure as Traumatic in Patients With Pharmacoresistant Focal Epilepsy

2021 ◽  
Vol 12 ◽  
Author(s):  
Sara Mariotti ◽  
Damien Valentin ◽  
Deniz Ertan ◽  
Louis Maillard ◽  
Alexis Tarrada ◽  
...  
Keyword(s):  
Focal Epilepsy ◽  
Traumatic Events ◽  
Epileptic Seizures ◽  
Traumatic Experience ◽  
Pharmacoresistant Epilepsy ◽  
Psychiatric Comorbidities ◽  
Traumatic Life Events ◽  
Determining Factors ◽  
Previous Trauma ◽  
History Of

Objective: The present study aimed to evaluate the prevalence of traumatic experienced seizures (TES) and of postepileptic seizure PTSD (PS-PTSD) in patients with pharmacoresistant focal epilepsy and to explore the determining factors of TES.Methods: We conducted an observational study enrolling 107 adult refractory epilepsy patients. We used the DSM-5 criteria of traumatic events and PTSD to define TES and PS-PTSD. We assessed all traumatic life events unrelated to epilepsy, general and specific psychiatric comorbidities, and quality of life.Results: Nearly half (n = 48) of the 107 participants reported at least one TES (44.85%). Among these, one-third (n = 16) developed PS-PTSD. The TES group was more likely to experience traumatic events unrelated to epilepsy (p < 0.001), to have generalized anxiety disorder (p = 0.019), and to have specific psychiatric comorbidities [e.g., interictal dysphoric disorder (p = 0.024) or anticipatory anxiety of seizures (p = 0.005)]. They reported a severe impact of epilepsy on their life (p = 0.01). The determining factors of TES according to the multifactorial model were the experience of trauma (p = 0.008), a history of at least one psychiatric disorder (p = 0.03), and a strong tendency toward dissociation (p = 0.03).Significance: Epileptic seizures may be a traumatic experience in some patients who suffer from pharmacoresistant epilepsy and may be the source of the development of PS-PTSD. Previous trauma unrelated to epilepsy and psychiatric history are determining factors of TES. These clinical entities should be explored systematically.

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.

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