Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients

Raymond Azman Ali, D. R. Fish, S. M. Sisodiya, N. Alsanjari, J. M. Stevens, S. D. Shorvon

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Abstract

Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years ). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter the epileptic syndromes in decreasing frequency were frontal (32%), temporal (31%), parietal (14%) and occipital (7%). Only 15% of patients had a history of status epilepticus. Prenatal/ perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10%, mental retardation in 9%, additional congenital abnormalities in 4% and neurological deficits in 14% of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11) minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller:larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and ≥ 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was presented in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT; the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology. Fifteen out of 35 patients were completely seizure-free after surgery (median follow-up 20 months; range 2 months to 14 years). Eleven of the 21 patients with DNT and four out of 14 patients with other forms of CD were completely seizure-free (one with focal cortical dysplasia, two with hippocampal sclerosis associated with CD and one with microdysgenesis). Of the patients with DNT, eight out of ten were seizure-free after a lobectomy as compared with three out of 11 after a lesionectomy (P< 0.05). Of 46 age-matched healthy volunteers (median age 28 years) who had high resolution MRI, only one showed possible CD (subependymal heterotopia). The heterogeneity of the morphological abnormalities associated with CD is reflected by the varied clinical, EEG and neuroimaging features. The recognition that there are subtle forms of CD which may be diagnosed by high resolution MRI will result in a diminution in the number of adult patients categorized as having cryptogenic epilepsy.

Original languageEnglish
Pages (from-to)629-660
Number of pages32
JournalBrain
Volume118
Issue number3
Publication statusPublished - 1995
Externally publishedYes

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Neuroepithelial Neoplasms
Neuroimaging
Malformations of Cortical Development
Epilepsy
Tuberous Sclerosis
epilepsy
sclerosis
Electroencephalography
Magnetic resonance imaging
Tumors
Tumor
neoplasms
Pathology
High Resolution
Range of data
Hippocampus
Lissencephaly
Volume measurement
Surgery
Percent

Keywords

  • Cortical dysgenesis
  • EEG
  • Epilepsy
  • MRI
  • Neuroblast migration

ASJC Scopus subject areas

  • Neuroscience(all)
  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Mathematics(all)
  • Statistics and Probability
  • Agricultural and Biological Sciences (miscellaneous)
  • Clinical Neurology

Cite this

@article{e9a7829c413a4990905f60728dc3f676,
title = "Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients",
abstract = "Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years ). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter the epileptic syndromes in decreasing frequency were frontal (32{\%}), temporal (31{\%}), parietal (14{\%}) and occipital (7{\%}). Only 15{\%} of patients had a history of status epilepticus. Prenatal/ perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10{\%}, mental retardation in 9{\%}, additional congenital abnormalities in 4{\%} and neurological deficits in 14{\%} of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11) minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller:larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and ≥ 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was presented in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT; the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology. Fifteen out of 35 patients were completely seizure-free after surgery (median follow-up 20 months; range 2 months to 14 years). Eleven of the 21 patients with DNT and four out of 14 patients with other forms of CD were completely seizure-free (one with focal cortical dysplasia, two with hippocampal sclerosis associated with CD and one with microdysgenesis). Of the patients with DNT, eight out of ten were seizure-free after a lobectomy as compared with three out of 11 after a lesionectomy (P< 0.05). Of 46 age-matched healthy volunteers (median age 28 years) who had high resolution MRI, only one showed possible CD (subependymal heterotopia). The heterogeneity of the morphological abnormalities associated with CD is reflected by the varied clinical, EEG and neuroimaging features. The recognition that there are subtle forms of CD which may be diagnosed by high resolution MRI will result in a diminution in the number of adult patients categorized as having cryptogenic epilepsy.",
keywords = "Cortical dysgenesis, EEG, Epilepsy, MRI, Neuroblast migration",
author = "Ali, {Raymond Azman} and Fish, {D. R.} and Sisodiya, {S. M.} and N. Alsanjari and Stevens, {J. M.} and Shorvon, {S. D.}",
year = "1995",
language = "English",
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pages = "629--660",
journal = "Brain",
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TY - JOUR

T1 - Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients

AU - Ali, Raymond Azman

AU - Fish, D. R.

AU - Sisodiya, S. M.

AU - Alsanjari, N.

AU - Stevens, J. M.

AU - Shorvon, S. D.

PY - 1995

Y1 - 1995

N2 - Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years ). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter the epileptic syndromes in decreasing frequency were frontal (32%), temporal (31%), parietal (14%) and occipital (7%). Only 15% of patients had a history of status epilepticus. Prenatal/ perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10%, mental retardation in 9%, additional congenital abnormalities in 4% and neurological deficits in 14% of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11) minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller:larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and ≥ 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was presented in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT; the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology. Fifteen out of 35 patients were completely seizure-free after surgery (median follow-up 20 months; range 2 months to 14 years). Eleven of the 21 patients with DNT and four out of 14 patients with other forms of CD were completely seizure-free (one with focal cortical dysplasia, two with hippocampal sclerosis associated with CD and one with microdysgenesis). Of the patients with DNT, eight out of ten were seizure-free after a lobectomy as compared with three out of 11 after a lesionectomy (P< 0.05). Of 46 age-matched healthy volunteers (median age 28 years) who had high resolution MRI, only one showed possible CD (subependymal heterotopia). The heterogeneity of the morphological abnormalities associated with CD is reflected by the varied clinical, EEG and neuroimaging features. The recognition that there are subtle forms of CD which may be diagnosed by high resolution MRI will result in a diminution in the number of adult patients categorized as having cryptogenic epilepsy.

AB - Cerebral cortical dysgenesis (CD) is a heterogeneous disorder of cortical development and organization commonly associated with epilepsy, with a variety of subtypes. We reviewed the clinical, EEG and neuroimaging features in 100 adult patients with CD. There were 39 men and 61 women with a median age of 27 years (range 15-63 years ). All patients were referred because of medically refractory epilepsy. Median age at seizure onset was 10 years (range 3 weeks to 39 years); in 30 patients, onset was in adulthood. The epilepsy was classified as generalized in 16 patients and localization-related in 84. Of the latter the epileptic syndromes in decreasing frequency were frontal (32%), temporal (31%), parietal (14%) and occipital (7%). Only 15% of patients had a history of status epilepticus. Prenatal/ perinatal problems were reported in 32 patients but these were severe in only four: exposure to drugs (three) and infection (one) during the first trimester. Delayed developmental milestones were seen in 10%, mental retardation in 9%, additional congenital abnormalities in 4% and neurological deficits in 14% of patients. Diagnosis of CD was based on neuroimaging in 70, pathology in four and both methods in the remaining 26. The following subcategories were identified: agyria/diffuse macrogyria (four patients), focal macrogyria (16), focal polymicrogyria (one), focal macrogyria/polymicrogyria associated with a cleft (11) minor gyral abnormalities (seven), subependymal grey matter heterotopia (20), bilateral subcortical laminar grey matter heterotopia (eight), tuberous sclerosis (five), focal cortical dysplasia/microdysgenesis (seven) and dysembryoplastic neuroepithelial tumours (DNT) (21). Sixty-eight percent of patients had normal CT and 19 out of 36 patients had normal previous conventional MRI. MRI-based hippocampal volume measurements in 47 patients revealed ratios (smaller:larger hippocampus) of < 0.90 in 16, 0.90-0.94 in 14 and ≥ 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was presented in 78 patients, including one patient with bilateral posterior macrogyria. Localized polymorphic slow activity was present in 43 patients. Five of 68 patients with focal/unilateral CD had only bilateral independent/synchronous spiking and 14 out of 32 with diffuse/bilateral CD only focal/unilateral spiking. In 60 patients with nondiffuse CD or with abnormal gyration or DNT; the epileptiform abnormalities were less extensive than coextensive with the lesion in 28, more extensive than and overlapped the lesion in 18 and remote from the lesion in five; nine patients did not have epileptiform abnormalities. There was poor correlation between the epileptic syndromes and EEG abnormalities and the location/extent of CD as defined by MRI and pathology. Fifteen out of 35 patients were completely seizure-free after surgery (median follow-up 20 months; range 2 months to 14 years). Eleven of the 21 patients with DNT and four out of 14 patients with other forms of CD were completely seizure-free (one with focal cortical dysplasia, two with hippocampal sclerosis associated with CD and one with microdysgenesis). Of the patients with DNT, eight out of ten were seizure-free after a lobectomy as compared with three out of 11 after a lesionectomy (P< 0.05). Of 46 age-matched healthy volunteers (median age 28 years) who had high resolution MRI, only one showed possible CD (subependymal heterotopia). The heterogeneity of the morphological abnormalities associated with CD is reflected by the varied clinical, EEG and neuroimaging features. The recognition that there are subtle forms of CD which may be diagnosed by high resolution MRI will result in a diminution in the number of adult patients categorized as having cryptogenic epilepsy.

KW - Cortical dysgenesis

KW - EEG

KW - Epilepsy

KW - MRI

KW - Neuroblast migration

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