EPILEPSY AND FOCAL GVRAL ANOMALIES
MORPHOLOGICAL CORRELATIONS AND DETECTED BY M RI : ELECTROCLI N ICO-
FOLLOW-UP
Renzo Guerrini Agatino Battaglia Charlotte Dravet ,Marie-Odile Livet Charles Raybaud Danielle Gambarelli Joseph Roger Olivier Robain Michelle Bureau
The widespread availability of advanced imaging techniques, particularly magnetic resonance imaging (MRI), has contributed much to the detection of brain lesions underlying human epilepsy (McLachlan et al. 1985, Conlon et al. 1988). In a growing number of patients with childhood-onset epilepsy, MRI can now show the developmental nature of such lesions by precisely defining the gyral pattern and digitations between grey and white matter (Barkovich e! a/ . 1987). Nevertheless, focal gyral anomalies with different pathological substrates are still difficult to differentiate by MRI alone. Areas of thick pachygyric cortex, polymicrogyria, and focal cortical dysplasia may have a similar macrogyric-like appearance on MRI (Barkovich et al. 1987, Kuzniecky et al. 1988, Titelbaum et al. 1989, Aicardi 1991). In addition, some intracortical lesions with both malformative and neoplastic characteristics may be ac- companied by loss of the normal gyral pattern (Altman 1988, Daumas-Duport et a/. 1988, Duchowney et al. 1989).
Different cortical developmental ab- normalities occuring in the same site and to the same extent can produce the same clinical features (Becker 1990). However, ( 1 ) different developmental lesions detectable by MRI may occur together with more widespread changes that are not detectable by MRI; and (2) clinically
these lesions are consistently complicated by epilepsy, the severity and type of which do not necessarily correlate with their ex tent.
To illustrate these points, we report the clinical and EEG findings for 10 patients with focal malformations of cortical gyri detected by M R I , and the MRI-anatomical correlates for two of these patients for whom pathological studies were available.
Patients and method The 10 patients (four male, six female) were aged between 40 days and 30 years (mean age 15 years 6 months). They have been followed at three institutions which deal with unselected populations of epilepsy patients (Centre Saint Paul, Marseille), or with children and ado- lescents with neurological disorders, developmental. delay and cognitive dis- abilities (Paediatric Neurology Depart- ment, CHU La Timone, Marseille; Institute of Child Neurology and Psychiatry, University of Pisa). In these institutions, neuroradiological investi- gations are performed largely for diag- nostic purposes. The 10 patients came from a consecutive series of 50 patients presenting with a developmental gyral abnormality which had been diagnosed by computed tomography (CT) scan, MRI, or both, between 1975 and 1990. We classified the abnormality as diffuse (22
TABLE I Age and diagnosis at first referral P
d
Patient Sex Age Diagnosis (yrs:mths)
1 F 3:O 2 M 1O:O 3 F 2 6
4 F 1:0 5 M 8:O
6 F 0:5
7 M 0:l
8 M 3:O 9 F 6:O
10 F 15:O
Cerebral palsy (hemiparetic) Complex partial seizures Cerebral palsy (hemiparetic). absent speech Partial seizures Mild learning disability and arthrogryposis multiplex congenita Infantile spasms and arthrogryposis multiplex congenita Situation-related seizures and multiple congenital malformations Complex partial seizures Complex partial seizures Complex partial seizures
patients), bilateral localized (lo), hemi- spheric (eight) and focal (10). The distribution of cases among these categories and clinical findings of patients with bilateral localized gyral abnormality are reported in an accompanying paper (Guerrini et al. 1992). The criteria for inclusion in the present study was the demonstration by MRI of a focal area of abnormal gyral pat!ern, with no change in cortical thickness and finger-like extensions of white matter in the remaining brain. Gyral anomalies resulting from scarring, atrophic or destructive lesions and those bordering a cleft in the cerebral mantle were excluded. Heterotopia was defined as an island of grey matter surrounded by white matter, located between the ventricular wall and the cortical mantle.
Ages and diagnoses at first referral were diverse (Table I). Mean duration of clinical follow-up from first referral was 10 years 8 months (from one month to 27 years). Seizures, present in all cases and associated or not with neurological signs, were the main complaints which led to neuroradiological investigations. All patients had had a CT scan, using first- to third-generation apparatus (EM1 1010, CGR FS 200 and GE 9800) before the advent of MRI. Either a normal CT scan or insufficient characterization of the
morphology and extent of the cortical abnormality prompted us to carry out further investigations by MRI in all patients. We also performed video-EEG polygraphic monitoring, classified types and severity of seizures and types of epilepsy, and assessed the patients’ cognitive level. Methods for these clinical, EEG, neuroradiological and neuropsycho- logical investigations are reported in an accompanying paper (Guerrini el a!. 1992).
The nine patients presenting with epilepsy have been followed from the onset of the disease, for a mean of 10 years 3 months (three to 27 years). A description of the clinical sympto- matology of seizures was available for all nine, and seizures were recorded in six.
Patient 7 (see Table 11) died at 40 days, following open-heart surgery. At autopsy, the brain was removed and fixed in 10 per cent formalin. Representative samples were embedded in paraffin. Sections were stained with cresyl violet and haematoxylin and eosin.
Patient 8 (see Table 11) underwent right partial frontal lobectomy because of medically-resistant complex partial seizures. The seizure focus was defined as the constant site of onset of ictal EEG activity recorded during several seizures from scalp ,electrodes, consistent with
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anomalies involving the heart, spine and limbs. Two had arthrogryposis multiplex congenita with severe contractures involving multiple proximal and distal joints; after surgical release procedures, they became ambulatory. High-resolution chromosome banding of leukocytes for three patients (3, 6, 7) was normal. 710
Fig. 2. Patient 3. (A) Surface EEG-polygraph recording. On left: patient awake; slow wave and spike activity in left hemisphere with centro- temporal predominance. Independent spike activity in right frontal region. Centre: continuous diffuse spikelwave activity at 2Hz during slow sleep. On right: during REM sleep, disappearance of diffuse slow spikelwave. (B) MRI (0.5T. SE, 2000/60-120). While-matter lacunar defects in right hemisphere; uncertain aetiology. Left fronto- parieto-temporal cortical abnormalities. No mass effect. Enlargement of overlying subarachnoid space. There were possible subcortical heterotopias in the left frontoparietal opercular areas (not shown).
Neurological features Six of the seven patients in group 1 had mild to moderate mental retardation; three of them had mild hemiparesis and another cerebellar ataxia. The seventh patient (7), who had had a normal neurological examination, died at 40 days. One of the three patients in group 2
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was moderately mentally retarded and had major behavioural problems; another had mild hemiparesis.
In two of the four patients with hemiparesis, this was so mild that it could be detected only after careful neurological examination, afer referral for a seizure disorder.
Epilepsy Epilepsy had been diagnosed in nine patients, with a mean age at onset of 6 years 6 months (range five months to 15 years). In no case was there a family history of epilepsy.
All seven patients in group 1 had seizures; all except the one who died in the newborn period had epilepsy. We recorded seizures of partial symptomatic epilepsy in two cases, undetermined epilepsy (focal or generalized) in one, and symptomatic generalized epilepsy in three. Rare fits occurred in one case, and frequent and severe seizures in five: intractable atypical absences were common to all these five patients. This seizure type occurred in the context of the Lennox-Gastaut syndrome in one patient. In the other four, the atypical absences were associated with various seizure types such as focal, unilateral or generalized, invariably indicating a severe and chronic epileptic encephalopathy .
All three patients in group 2 had partial symptomatic epilepsy, with frequent and severe complex partial seizures. Two also presented with repeated episodes of partial status epilepticus. We recorded seizures in patients 8 (see Fig. 4A) and 9, and determined the origin and spread of seizure activity. In spite of very long remissions (up to 13 years for patient 8 and five years for patient 9), seizures reappeared suddenly in several bouts a day, calling for surgical treatment for patient 8.
EEG characteristics In group 1 , rhythmic activity evoked posteriorly on eye-closure was normal for all except patient 6 . Patients with frequent and severe seizures (2 to 6) had continuous focal delta slowing in the area of the cortical anomaly, with super- imposed spikes or,sharp and slow waves, accompanied by diffuse slow spike and
wave complexes. Temporally independent multifocal spikes involving the contra- lateral hemisphere occurred in four patients (2, 3, 4, 6) (see Figs, l A , 2A). Continuous generalized spike and wave complexes occurred in patient 3, from sleep stage 1 onward, during 60 to 70 per cent of slow-wave phases (see Fig. 2A).
In group 2, rhythmic activity evoked posteriorly on eye-closure was normal. All three patients had continuous theta- delta focal slowing, mixed with spike and sharp transients in the regions of the MRI- detected anomaly.
Surgery Follow-up of patient 8 (group 2) after right frontal lobectomy (at age 28) was 22 months (Fig. 4A, B). Since the procedure the patient has been seizure-free, with great improvement in behaviour. Recent EEGs show a marked reduction in interictal anomalies. The patient's low cognitive level precludes neuropsycho- logical assessment. There are no obvious neurological signs.
Neuropathology
external examination of the brain, asymmetry of cerebral hemispheres was noted, the right being smaller than the left. Inspection of the cortical surface of the cerebral convexity showed the gyri to be fewer and coarser than normal. The cut surfaces had an abnormally thick cortex formed by many small gyri with fused surfaces, corresponding to polymicrogyria. This covered the entire hemispheric surface, except the hippo- campus on the right, and the fronto- parietal cortex and frontotemporal gyrus on the left. The microscopic structure of the polymicrogyric cortex was complex: in some areas the typical four-layered pattern was observed, but in larger zones there was more complex dysplasia, with loss of normal layering and abnormal neuronal orientation. The leptomeninges covering the polymicrogyric cortex were thickened, abnormally vascularized and contained areas of glioneuronal hetero- topia. There were also numerous ectopic neurons in the subcortical white matter. Small areas of leukomalacia were present in the dorsal nuclei of the thalami and in
PATIENT 7-GROUP 1 (Figs. 3C-G). On
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m Fig. 5. Patient 10. MRI (0.5T. SE, 2000/60). Abnormal thickness of cortex in right parieto-temporo-occipital area. Almost no white matter, which is replaced by masses of grey matter along ventricle, as well as through cerebral mantle. No morphological sign oJ schizencephaly. Mass
. 2 E - 0 m effect with deformity of atrial portion of lateral ventricle. - 8 I& m m 3 their greatest dimension. These were
mainly scattered in the deeper part of the n w cortex; they stained deeply with Nissl
stain and slightly with PAS. Most of the large neurons were pyramidal in shape, but certain dysmorphic features such as multipolar distribution of dendrites were made obvious by silver impregnation, using the Bodian method. Two to 10 round satellite glial cells were visible around the large neurons. The density of glial cells was abnormally high in the cortex. In the subcortical white matter, many astrocytes with swollen GFAP- positive cytoplasm were visible, whereas no giant dystrophic glial cells were observed. Many ectopic neurons were scattered in the white matter. Such findings suggest cortical dysplasia
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714
Discussion Giant neurons and bizarre giant astrocytes are not specific to focal dysplasia. They can also be found in tuberous sclerosis and hemimegalencephaly (Manz et al. 1979, Robain et al. 1989), but the topography is quite different: sharply delimited in focal dysplasia, nodular in tuberous sclerosis, and diffuse in hemimegalencephaly (Robain et al. 1988). However, the great extent of the dysplastic area, with consequent midline shifts, in our patient 8 (see Fig. 4B) raises doubts about the nosological limits
between focal cortical dysplasia and the so- called ‘mild’ forms of hemimegalencephaly (Barkovich et al. 1987).
Focal cortical dysplasia and subcortical heterotopia just below the neocortex are difficult to differentiate. The clinical presentation may be similar, and in either condition MRI may show a mass of grey matter ‘compressing’ the ventricle (Hayden et al. 1987, Smith et al. 1988). Such a finding may represent tangential sections through deeply infolded, thick convolutions of dysplastic neurons, or on the other hand, areas of heterotopia. Therefore we have limited the term heterotopia to sizeable cell masses clearly separated from the cortex, a condition unlikely to occur in focal cortical dysplasia.
Tentative electroclinical-morphological correlations To the extent that the prognosis for patients with focal gyral anomaly seems largely dependent on seizure outcome, it is important to find out any correlations between MRI and electroclinical findings. Major differences in both seizure types and outcome were observed between the two groups.
UNILATERAL OPERCULAR ANOMALIES (GROUP 1) These patients had a macrogyric-like
lesion centering on one Sylvian fissure, sometimes accompanied by islands of heterotopic grey matter. Pathological study of one of them showed extensive polymicrogyria (see Figs. 3 ~ - G ) , high- lighting the difficulty in obtaining a precise neuroradiological classification. In this patient, the excessive cortical folding was difficult to identify on MRI because of pressure on the adjacent molecular layers. On cutting, fused molecular layers of adjacent gyri or densely packed microgyri may appear to be thickened cortex (Friede 1989). Consequently, when M R I shows cortical areas with broad gyri and shallow sulci, these may actually be microgyric instead of macrogyric.
Diffuse microscopic brain involvement above and beyond a focal macroscopic developmental lesion is well known (Warkany 1981). Clinical and EEG data suggest such a possibility in almost all patients in this group. Three patients had focal neurological signs; all six had mental retardation and epilepsy. How- ever, only one had both clinical and EEG findings pointing to a focal disorder: in the other five, intractable generalized seizures were predominant, either from the onset of epilepsy or soon complicating partial seizures. This evolution is probably linked to the secondary bilateral synchrony phenomenon and to wider pathological changes than can be recognized on MRI.
UNILATERAL BULGING OF THE CORTEX (GROUP 2) In this group, a focal gyral anomaly was accompanied by bulging grey matter, with ventricle deformity. The surgically removed specimen in one patient demonstrated focal dysplasia of the cerebral cortex (Taylor et al. 1971). Anatomical findings suggested excessive proliferation of both neurons and astrocytes associated with defects in subsequent neuronal migration and cortical organization (Volpe 1987). Disruption of normal cortical lamination is usually limited to sharply delineated segments of no more than 2cm in length and do not form nodular masses. The lesion may vary greatly in extent and only in certain cases seems to be accompanied
by an abnormal gyral pattern (Taylor et af. 1971; Mikhael and Matter 1978; Nordborg el al. 1987; Moreland et al. 1988; Kuzniecky et af. 1988, 1991). Age at seizure onset is also variable and the interictal neurological deficit seems to be related to the extent of the lesion.
Epilepsy in this group was different from that in group 1. Intractable, stereo- typed, complex partial seizures were present from the onset of epilepsy and generalized seizures were never observed. EEG anomalies remained confined to the same area. This electroclinical picture did not change during the evolution, in- dicating an epileptogenic zone corres- ponding to the MRI-detected structural changes. For these patients there were no findings suggestive of any significant malformation in the remaining brain tissue. Such patients should be regarded as good candidates for surgery, as shown by the beneficial effects achieved by partial frontal lobectomy in patient 8.
Clinical presentation and imaging assessment The smaller a developmental cortical lesion, the more likelihood there is that the seizures are the presenting symptom and the lesser the chances are that developmental delay and neurological signs are associated.
Seizures were the presenting symptom in the majority of our patients and the associated neurological features were often discovered only during later assessments. While in the majority of known gyral anomalies the clinical phenotype allows for diagnostic suspicion (Kuzniecky et af. 1989, Robain et al. 1988, Aicardi 1991, Guerrini et al. 1992), this is not the case when the abnormality is focal. We are not dealing with a separate nosological entity and it still seems difficult to state when a focal gyral malformation should be suspected. Nevertheless, it seems to us that there are some clinical manifestations that might lead one to look for a focal gyral anomaly. Intractable partial seizures and episodes of status should prompt suspicion of a focal dysplasia whenever a positive personal history of symptomatic epilepsy is lacking.
Similarly, focal epilepsy progressively
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complicated by a secondary general- ization, particularly in a child with hemiparesis or limb deformities, should make one suspect a disorder of neuronal migration or cortical organization when evidence for an acquired brain lesion is lacking. In our opinion, in such instances MRI represents the most reliable imaging procedure because of its superiority over CT scan. MRI can better appreciate the grey-white matter transition and can clearly distinguish the abnormal gyri which are difficult to appreciate by CT because of the proximity of the skull. Evaluation of cortical features is enhanced by the multiplanar capability of the MRI (Smith et af. 1989).
Conclusions Andermann et al. (1987) and Kuzniecky et al. (1988) called attention to focal gyral anomalies in patients with intractable seizures. They stressed the need for precise clinico-radiological correlations and discussed the role of surgical removal of the epileptogenic lesion.
Our data seem to delineate two different types of focal gyral lesions. One type is due ‘ to a migratory and/or postmigratory disorder, and is charac-
terized by smooth thickened cortex in the Sylvian-opercular region and by EEG abnormalities recorded almost always from both hemispheres. The other type seems to originate during neuronal multiplication, and is characterized by randomly located abnormal gyri with irregular limits and focal EEG abnor- malities. The distinctive electroclinical picture of the latter type provides a reliable indication for surgical removal.
Accepted for publication 11th February 1992.
Acknowledgement We thank Dr. Jean Aicardi for helpful criticism and suggestions when reviewing a previous version of this manuscript.
Authors’ Appointments *R. Guerrini, M.D.; A. Battaglia, M.D.; INPE University of Pisa-IRCCS Stella Maris, Calambrone, Pisa, Italy. Ch. Dravet, M.D.; J. Roger, M.D.; M. Bureau, M.D.; Centre Saint Paul, Marseille, France. Ch. Raybaud, M.D.; M.-0. Livet, M.D.; D. Garnbarelli, M.D.; CHU La Timone, Marseille, France. 0. Robain, M.D., INSERM U 29 HGpital Saint Vincent de Paul, Paris, France.
*Correspondence to first author at Istituto di Neuropsichiatria Infantile, Universita di Pisa- IRCCS Stella Maris, Via dei Giacinti 2, 56018 Calambrone, Pisa, Italy.
SUMMARY The authors studied 10 patients (mean age 15 years 6 months) with localized developmental gyral disorder detected by MRI. There were two groups of major malformations. Seven patients (group I ) had unilateral ‘macrogyric-like’ insulo-opercular changes, one of whom died early in life and had extensive microgyria. The six others had mental retardation and epilepsy, three of whom had focal neurological signs. Age at onset of epilepsy varied greatly. Clinical and EEG data suggested a wider cerebral involvement than recognized on MRI. The remaining three patients (group 2) had abnormal gyri of variable topography and extension, with bulging grey matter and ventricular deformity. One had mental retardation, another had neurological signs. All had intractable complex partial seizures and focal EEG anomalies correlating with the MRI lesion site, pointing to a well-defined epileptogenic zone. No clinical or EEG evidence of significant malformation in the remaining brain tissue was observed. Ablative surgery was beneficial for one patient; focal cortical dysplasia was the pathological substrate.
RESUME Epilepsie et anomalies focales de circon volurions detectees par IRM: corrdations electroclinico- morphologiques et suivi Les auteurs ont etudik 10 patients (fge moyen de 15 ans 6 mois) avec un trouble local de developpement des circonvolutions detecte par IRM. I1 y avait deux groupes de malformations majeures. Sept patients (groupe un) prisentaient des modifications insulo-operculaires unilaterales ‘de type macrogyrique’, dont I’un mourut precocement avec une microgyrie extensive. Les six autres patients prisentaient un retard mental et une epilepsie, trois d’entre eux ayant en outre des signes neurologiques focaux. Les donnees cliniques et EEG suggeraient une atteinte cerebrale plus &endue que ce que suggerait I’IRM. Les trois autres patients (groupe deux) prisentaient des anomalies de circonvolutions de topographie et d’extension variables, avec saillies de la substance grise et signes neurologiques. Tous les patients prisentaient des crises comitiales focales complexes irrtductibles et des anomalies focales EEG correspondant avec le siege des lesions a I’IRM, orientant vers une zone epileptogene bien definie. Aucune evidence clinique ou EEG de malformations significates dans le reste du tissu cerebral n’a e t i observe.
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ZUSAMMENFASSUNG Epilepsie und fokale, im MRl nachgewiesene Gyrusanomalien: Beziehung zwischen elektrischen, klinischen und morphologischen Befunden und Verlauf Die Autoren untersuchten 10 patienten (mittleres Alter 15 Jahre und 6 Monate) mit fokalen, im MRI nachgewiesenen Gyrusanomalien. Es wurden zwei gronere MiRbildungsgruppen unterschieden. Sieben Patienten (Gruppe I ) hatte unilaterale ‘macrpgyrus-ahnliche’ Veranderungen im Insel-Operculum Bereich, einer davon starb im fruhen Lebensalter und hatte eine ausgedehnte Mikrogyrie. Die sechs anderen waren geistig retardiert und hatten eine Epilepsie, drei von ihnen hatten fokale neurologische Symptome. Das Alter bei Beginn der Erkrankung war sehr unterschiedlich. Klinik und EEG-Befunde lienen eine gronere cerebrale Ausdehnung verrnuten als die MRI-Befunde aufzeigten. Die restlichen
anderer hatte neurologische Symptome. Alle hatten unkontrollierbare komplexe Partialanfalle und fokale EEG-Veranderungen, die mit den Lasions-herden im MRI iibereinstirnmten, was auf eine klar
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e drei Patienten (Gruppe 2) hatten abnorme Gyri unterschiedlicher Topographie und Ausdehnung mit Vorwolbungen der grauen Substanz und Ventrikelminbildungen. Einer war geistig retardiert, ein
2 is
definierte epileptogene Zone hinweist. Im ubrigen Hirngewebe fanden sich keine klinischen oder elektroenzephalographischen Hinweise fur signifikante MiBbildungen.
Q .E,
RESUMEN .9
Los autores estudiaron 10 pacientes (promedio’de edad 15 afios y 6 meses) con alteraciones girales localizadas del desarrollo detectadas por IRM. Habia dos grupos de malformaciones mayores. Siete pacientes (grupo uno) tenian modificaciones insulo-operculares unilaterales del tipo macrogirico, de
variaba grademente. Los datos clinicos y EEG sugerian una afectacion cerebral mAs amplia de lo
.Q Epilepsia y anomalias focales girales detectadas por IRM: correlaciones electroclinico-morfologicas y seguimiento
4
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Q 10s cuales uno fallecio muy joven y tenia una extensa microgiria. Los otros seis tenian retraso mental y epilepsia, y tres de ellos tenian signos neurologicos focales. La edad de comienzo de la epilepsia
reconocido por la IRM. Los otros tres pacientes (grupo dos) tenian circunvoluciones anomalas de topografia y extension variables, con substancia gris prorninente y deformidad ventricular. Uno tenia un retraso mental y otros signos neurologicos. Todos tenian convulsiones parciales complejas intratables y anomalias EEG en correlacion con el lado de la lesion vista con la IRM, apuntando a una zona epileptoginica bien definida. No se observo ninguna evidencia clinica o EEG de una malforrnacion significativa en el resto del tejido cerebral.
References Aicardi, J. (1991) ‘The agyria-pachygyria complex:
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