Stabilised epilepsy in three adult cases of pachygyria

To read the full-text of this research, you can request a copy directly from the authors.


In complex malformations of the neocortex due to neuronal migration disorders, epilepsy is usually intractable and is observed in childhood. The study of such malformations in adults is rare. Three adult cases are described with easily treated epilepsy controlled by one or two anti-epilectic drugs. A brain CAT-scan of these three patients showed pachygyria (macrogyria) sometimes associated with other malformations and disorders of neurone migration. These three 28, 40 and 53 year-old-patients (one woman and two men) were mentally disturbed with complex neurological disturbances and confined to a wheelchair. Their epilepsy had began in childhood and stabilised as these patients became adults. We raised the question as to whether this is in fact the long-term outcome for epileptic patients with pachygyria. The outcome of such epilepsy due to pachygyria could be better than initially supposed.

No full-text available

Request Full-text Paper PDF

To read the full-text of this research,
you can request a copy directly from the authors.

... Classification of these disorders is based on morphological criteria and includes schizencphaly, porencephaly, lissencephaly, argyria, macrogyria, pachygyria, microgyria, and polymicrogyria [5]. The classic manifestation of these disorders is epilepsy, which presents in childhood and is usually intractable [6]. ...
Four infants had agyria confirmed by CT scan. All were mentally retarded, microcephalic, 3 of them having characteristic facial dysmorphy and 2 infantile spasms. EEG was characterized by very high amplitude rhythms in the alpha range, associated with delta waves and with infrequent spikes. The tracing was poorly modified by sleep. Drugs reduced its amplitude and rapid rhythms appeared with benzodiazepines. The authors point to the usefulness of the EEG in suggesting diagnosis before the CT scan, as was the case in 2 patients. They point to the urgent need of studying infantile epilepsies according to etiology, and not only to seizure types.RésuméQuatre enfants présentant une agyrie confirmée par le CT scan étaient retardés mentaux, microcéphales, 3 d'entre-eux présentant une dysmorphie faciale caractéristique et 2 des spasmes infantiles. L'EEG était caractérisé par des rythmes de la bande alpha de très grande amplitude associés à des ondes delta et à de rares pointes. Le tracé était peu modifié par le sommeil. Les drogues diminuaient son amplitude et les benzodiazépines faisaient apparaître des rythmes rapides. Les auteurs soulignent l'utilité de l'EEG pour suggérer le diagnostic avant le CT scan comme ce fut le cas chez 2 enfants. Ils soulignent la nécessité d'étudier les épilepsies du nourrisson en fonction de l'étiologie et non seulement du type de crises.
We studied 30 patients with partial epilepsy and a radiological or pathological diagnosis of localized neuronal migration disorders, with a view to surgical treatment. Eight patients had identifiable prenatal etiological factors. The frequency of complex partial, partial motor, and secondarily generalized seizures was approximately 70% each. Drop attacks were present in 27%: Their presence usually correlated with a lesion involving the central region. Partial motor or generalized convulsive status epilepticus occurred in 30%, and was most frequently associated with extensive structural abnormalities involving two or more lobes. A full-scale intelligence quotient of less than 80 was found in 44%. Magnetic resonance imaging (MRI) was superior to computed tomography for identification of the dysplastic cortical lesions. In one third, MRI showed only subcortical abnormalities. It did not allow distinction between true pachygyria, focal cortical dysplasia, or the forme fruste of tuberous sclerosis. The epileptogenic area was usually more extensive than the lesion; it was multilobar in more than 70% of patients. Of 26 surgically treated patients, a histological diagnosis of the type of neuronal migration disorder was possible in 22: 12 had focal cortical dysplasia and 10 the forme fruste of tuberous sclerosis. In the remaining 4, no definite histological diagnosis was made, since the maximally abnormal tissue could not be examined. In the latter, and in the 4 nonoperated patients, the diagnosis of neuronal migration disorder was based on imaging findings. The presence of the forme fruste of tuberous sclerosis correlated with delayed psychomotor development and more extensive epileptogenic areas.
All mentally retarded (MR) subjects in a northern Swedish county were assessed for the occurrence of active epilepsy on a prevalence day. Active epilepsy was found in 299 subjects (20.2% of those with MR) corresponding to a crude prevalence rate of 1.2/1000 inhabitants. The age-specific prevalence for 0-9 years was higher for females than for males, while in other age groups it was slightly higher for males or showed no difference between the sexes. Epilepsy and MR were the only disorders in 129 subjects (43.1%). Cerebral palsy was the most common associated disorder and occurred in 100 (33.4%). A presumable etiology for epilepsy and MR was identified in 73.2% and 71.9%, respectively. The presumable etiological factors which caused MR occurred prenatally in 35%, perinatally in 10% and postnatally in 9%. The pathogenetic period was unknown in 31%. In 15%, the etiological events occurred during more than one of the above periods. The presumable causes were responsible for both epilepsy and MR in all except 7 cases. MR individuals with epilepsy were significantly more retarded than those without epilepsy. The first seizure occurred during the neonatal period in 11.6% and before 1 year of age in 27.7%. Generalized tonic-clonic seizures were the most common type and occurred in 204 subjects (68.2%). Seventy-one of these also had partial seizure manifestations. Daily to weekly seizures occurred in 26.8% and 32.0% had been seizure-free for the past year.
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 > or = 0.95 in 17 patients. EEGs were normal in only five patients. Alpha rhythm was preserved 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.(ABSTRACT TRUNCATED AT 400 WORDS)