Pathologic Features of Dysplasia and Accompanying Alterations Observed in Surgical Specimens from Patients with Intractable Epilepsy

2004 ◽  
Vol 19 (3) ◽  
pp. 341-350 ◽  
Author(s):  
Akiyoshi Kakita ◽  
Shigeki Kameyama ◽  
Shintaro Hayashi ◽  
Hiroshi Masuda ◽  
Hitoshi Takahashi
Keyword(s):  
White Matter ◽  
Focal Cortical Dysplasia ◽  
Molecular Layer ◽  
Cortical Development ◽  
Neurofibrillary Tangle ◽  
Intractable Epilepsy ◽  
Clinical Findings ◽  
Cortical Layer ◽  
Pathologic Features ◽  
Cortical Dysplasias

Malformations caused by abnormalities of cortical development, or cortical dysplasias, were examined in surgical specimens from 108 patients with medically intractable epilepsy to determine the scope of histopathologic changes. The relevance of the clinical findings was also evaluated. Various types and degrees of dysplastic features were observed in various combinations, including architectural abnormalities, an increased number of neurons in the molecular layer and/or cortical layer II, neuronal clustering, an increased number of satellite oligodendrocytes, abnormal gyration, single and/or aggregates of heterotopic neurons in the white matter, and the appearance of cytologically abnormal cells, such as giant or dysmorphic neurons and balloon cells. In the temporal lobe specimens, microdysgenesis (corresponding to mild malformations caused by abnormalities of cortical development and type IA/B focal cortical dysplasias) was more frequently observed than Taylor-type focal cortical dysplasia (type IIA/B), whereas in the frontal lobe specimens, the frequency of occurrence of both types was even. The ages at seizure onset and surgery of patients with the latter type were significantly lower than those of patients with the former. On the other hand, prominent astrocytosis in the cortex and white matter was evident in all cases, and many corpora amylacea and neurofibrillary tangle—like inclusions were observed in a subset of cases. An ultrastructural investigation revealed dilatation of the postsynaptic dendritic spines and shafts in the cortex and features indicating the occurrence in the white matter of demyelination followed by remyelination. Thus, with regard to the epileptogenic lesions, although dysplastic changes constitute the pathogenetic basis, the overlapping subsequent degenerative processes involving synapses, dendrites, and axons might contribute to the development of epileptogenic processes. Astrocytes might also actively participate in the development of the pathogenesis of epilepsy. ( J Child Neurol 2005;20:341—350).

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.

scholarly journals Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development

2020 ◽  
Vol 50 (6) ◽  
pp. 1573-1579
Author(s):  
Özge AKSEL KILIÇARSLAN ◽  
Esra ATAMAN ◽  
Semra GÜRSOY ◽  
Gürkan GÜRBÜZ ◽  
Aycan ÜNALP ◽  
...  
Keyword(s):  
Focal Cortical Dysplasia ◽  
Cortical Development ◽  
Gene Mutations ◽  
Genetic Alterations ◽  
Clinical Findings ◽  
Imaging Findings ◽  
Malformations Of Cortical Development ◽  
Tubulin Gene ◽  
Multicenter Studies

Background and aim: The number of reports on the role of tubulin gene mutations (TUBA1A, TUBB2B, and TUBB3) in etiology of malformations of cortical development has peaked in recent years. We aimed to determine tubulin gene defects on a patient population with simple and complex malformations of cortical development, and investigate the relationship between tubulin gene mutations and disease phenotype.Materials and methods: We evaluated 47 patients with simple or complex malformations of cortical development, as determined by radiological examination, for demographic features, clinical findings and mutations on TUBA1A, TUBB2B, and TUBB3 genes. Results: According to the magnetic resonance imaging findings, 19 patients (40.5%) had simple malformations of cortical development and 28 (59.5%) patients had complex malformations of cortical development. Focal cortical dysplasia was the most common simple malformation, lissencephaly was the most common coexisting cortical malformation, and corpus callosum anomalies were the most common coexisting extracortical neurodevelopmental abnormalities. None of the patients had genetic alterations on TUBA1A, TUBB2B, and TUBB3 genes causing protein dysfunction. On the other hand, the frequencies of some polymorphisms were higher when compared to the literature.Conclusion: It is crucial to identify the etiology in patients with malformations of cortical development in order to provide appropriate genetic counseling and prenatal diagnosis. We consider that multicenter studies with higher patient numbers and also including other malformations of cortical development-related genes are required to determine underlying etiological factors of malformations of cortical development patients.

Diffusion Tensor Imaging Abnormalities in Focal Cortical Dysplasia

2005 ◽  
Vol 32 (4) ◽  
pp. 477-482 ◽  
Author(s):  
Donald W Gross ◽  
Alexandre Bastos ◽  
Christian Beaulieu
Keyword(s):  
Diffusion Tensor Imaging ◽  
White Matter ◽  
Fractional Anisotropy ◽  
White Matter Hyperintensities ◽  
Diffusion Tensor ◽  
Focal Cortical Dysplasia ◽  
Intractable Epilepsy ◽  
Subcortical White Matter ◽  
Cortical Dysplasia ◽  
Relative Increase

ABSTRACT:Purpose:Focal cortical dysplasia (FCD) is one of the most common underlying pathologic substrates in patients with medically intractable epilepsy. While magnetic resonance imaging (MRI) evidence of FCD is an important predictor of good surgical outcome, conventional MRI is not sensitive enough to detect all lesions. Previous reports of diffusion tensor imaging (DTI) abnormalities in FCD suggest the potential of DTI in the detection of FCD. The purpose of this study was to study subcortical white matter underlying small lesions of FCD using DTI.Methods:Five patients with medically intractable epilepsy and FCD were investigated. Diffusion tensor imaging images were acquired (20 contiguous 3mm thick axial slices) with maps of fractional anisotropy (FA), trace apparent diffusion coefficient (trace/3 ADC), and principal eigenvalues (ADC parallel and ADC perpendicular to white matter tracts) being calculated for each slice. Region of interest analysis was used to compare subcortical white matter ipsilateral and contralateral to the lesion.Results:Three subjects with FCD associated with underlying white matter hyperintensities on T2 weighted MRI were observed to have increased trace/3 ADC, reduced fractional anisotropy and increased perpendicular water diffusivity which was greater than the relative increase in the parallel diffusivity. No DTI abnormalities were identified in two patients with FCD without white matter hyperintensities on conventional T2-weighted MRI.Conclusions:While DTI abnormalities in FCD with obvious white matter involvement are consistent with micro-structural degradation of the underlying subcortical white matter, DTI changes were not identified in FCD lesions with normal appearing white matter.

Surgical treatment of intractable epilepsy associated with focal cortical dysplasia

2008 ◽  
Vol 25 (3) ◽  
pp. E6 ◽  
Author(s):  
Roberto Jose Diaz ◽  
Elisabeth M. S. Sherman ◽  
Walter J. Hader
Keyword(s):  
Refractory Epilepsy ◽  
Functional Neuroimaging ◽  
Focal Cortical Dysplasia ◽  
Intractable Epilepsy ◽  
Cortical Dysplasia ◽  
Complete Resection ◽  
Epileptogenic Zone ◽  
Malformations Of Cortical Development ◽  
Cortical Dysplasias

Focal cortical dysplasias (FCDs) are congenital malformations of cortical development that are a frequent cause of refractory epilepsy in both children and adults. With advances in structural and functional neuroimaging, these lesions are increasingly being identified as a cause of intractable epilepsy in patients undergoing surgical management for intractable epilepsy. Comprehensive histological classification of FCDs with the establishment of uniform terminology and reproducible pathological features has aided in our understanding of FCDs as an epilepsy substrate. Complete resection of FCDs and the associated epileptogenic zone can result in a good surgical outcome in the majority of patients.

Histopathologic Findings of Malformations of Cortical Development in an Epilepsy Surgery Cohort

2006 ◽  
Vol 130 (8) ◽  
pp. 1163-1168 ◽  
Author(s):  
E. Brannon Morris ◽  
Joseph E. Parisi ◽  
Jeffrey R. Buchhalter
Keyword(s):  
Classification Scheme ◽  
Focal Cortical Dysplasia ◽  
Cortical Development ◽  
Intractable Epilepsy ◽  
Cortical Dysplasia ◽  
Surgical Pathology ◽  
Cresyl Violet ◽  
Malformations Of Cortical Development ◽  
Balloon Cells ◽  
Histopathologic Findings

Abstract Context.—Malformations of cortical development (MCDs) are an important cause of pharmacoresistent epilepsy and are frequently diagnosed in surgical pathology. The lack of uniform tissue processing and standard histopathologic nomenclature to describe MCDs has resulted in diagnostic ambiguity. Objective.—To describe the immunohistochemical findings of MCDs from a relatively large surgical epilepsy cohort and incorporate terminology that more adequately reflects the histopathologic findings into a contemporary classification of MCD. Design.—Utilizing the Mayo Clinic Rochester Surgical Pathology Database and patient records, 53 patients with previous intractable epilepsy and a known malformation of cortical development were identified. All of the cohort's paraffin embedded surgical specimens were resectioned and stained with hematoxylin-eosin, Luxol fast blue/cresyl violet, neurofilament protein, and glial fibrillary acidic protein. Each specimen was reviewed histologically and categorized according to a proposed focal MCD classification scheme that substitutes cytoarchitectural dysmorphism for cortical dysplasia and architectural disorganization for microdysgenesis. Results.—An MCD was recognized in 49 patients and grouped into 1 of the following 4 categories: (1) cytoarchitectural dysmorphism with balloon cells (n = 19), (2) cytoarchitectural dysmorphism without balloon cells (n = 12), (3) architectural disorganization (n = 8), or (4) polymicrogyria (n = 9). Conclusions.—The histopathologic features of focal MCD in a large epilepsy surgical cohort by using practical immunohistochemistry and a contemporary MCD classification scheme are described. It is proposed that the term focal cortical dysplasia be renamed as focal malformations of cortical development.

SECONDARY EPILEPTIC FOCI IN CHILDREN WITH INTRACTABLE EPILEPSY SECONDARY TO CORTICAL DYSPLASIAS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
E Galicia ◽  
O Hiroshi ◽  
M Ismail ◽  
R Sakuta ◽  
A Ochi ◽  
...  
Keyword(s):  
Intractable Epilepsy ◽  
Cortical Dysplasias

Intravenous Immunoglobulin as a Treatment for Intractable Epilepsy Secondary to Focal Cortical Dysplasia: A Meta-analysis

2017 ◽  
Vol 76 ◽  
pp. 79-81 ◽  
Author(s):  
Fatema Al Amrani ◽  
Roy Dudley ◽  
Luis E. Bello-Espinosa ◽  
Bernard Rosenblatt ◽  
Myriam Srour ◽  
...  
Keyword(s):  
Intravenous Immunoglobulin ◽  
Focal Cortical Dysplasia ◽  
Meta Analysis ◽  
Intractable Epilepsy ◽  
Cortical Dysplasia

Gliomatosis Cerebri in Six Dogs

2003 ◽  
Vol 40 (1) ◽  
pp. 97-102 ◽  
Author(s):  
B. Porter ◽  
A. DeLahunta ◽  
B. Summers
Keyword(s):  
Cranial Nerve ◽  
Gliomatosis Cerebri ◽  
Clinical Findings ◽  
Human Medicine ◽  
Glial Fibrillary Acid Protein ◽  
Neoplastic Cells ◽  
Diffuse Infiltration ◽  
Acid Protein ◽  
Pathologic Features ◽  
The Brain

Gliomatosis cerebri is a well-recognized entity in human medicine characterized by unusually widespread infiltration of the neuraxis by neoplastic glial cells with relative preservation of brain architecture. This report describes the pathologic features of the disease in six dogs. The dogs ranged from 3 to 9 years of age (mean 6.1 years) without evidence of breed predilection; five of the six dogs were neutered or intact males. The clinical findings were mixed (including depression, circling, cranial nerve deficits), reflecting the diffuse nature of the disease. Histologically, there was remarkably diffuse infiltration of the white and gray matter of the brain by small numbers of elongated neoplastic cells. Areas of greater cellularity formed grossly visible lesions in four cases. Anisocytosis and pleomorphism were greater in areas of higher cellularity. Other features of tumor growth included subpial accumulation, neuronal satellitosis, perivascular cuffing, and tropism for cranial nerve and brain stem nuclei. Neoplastic cells were negative on immunohistochemical stains for glial fibrillary acid protein (GFAP) and leukocyte markers, reflecting the uncertain histogenesis of these unusual neoplasms.

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