Epilepsia, 33(3):499-503, 1992 Raven Press, Ltd., New York 0 International League Against Epilepsy Unilateral Opercular Macrogyria and Benign Childhood Epilepsy with Centrotemporal (Rolandic) Spikes: Report of a Case Giovanni Ambrosetto Institute of Neurology, University of Bologna, Bologna, Italy Summary: An 18-year-old mentally normal epileptic boy had frequent left brachiofacial or unilateral motor seizures which started at age 4 years and ceased 10 years later. Seizures were exclusively sleep-related. No relapse followed antiepileptic drug (AED) discontinuation. Left arm slight paresis and left hand astereognosia occurred at age 10 years. Awake EEGs showed persistent right rolandic discharges increased by sleep. Somatosensory evoked potentials (SEPs) were giant with left median nerve stimulation. Computed tomography (CT) and magnetic resonance imaging (MRI) disclosed right opercular macrogyria. We suggest that the structural brain lesion was causally related to his “idiopathic” partial epilepsy. Similar case reports and pathologic studies will elucidate the morphologic substrate of the underlying functional disorder in idiopathic partial epilepsies. Key Words: Epilepsy-Electroencep halography-Brain-Macrogyria. In the latest proposal for a revised classification of epilepsies and epileptic syndromes (Commission, 1989),benign childhood epilepsy with centrotemporal (rolandic) spikes (BECTS) is considered an “idiopathic location-related (focal, local, partial) epilepsy.” Idiopathic epilepsies are described as “disorders not preceded or occasioned by another” with “no underlying cause other than a possible hereditary predisposition.” Thus, BECTS is a syndrome without demonstrable anatomic lesions, and patients clinically have neither neurologic and intellectual deficit nor a history of antecedent illness. I report a patient with unilateral opercular macrogyria and epilepsy with the electroclinical and evolutive characteristics of BECTS, which in all probability were causally related. the left arm, hypersalivation, and inability to speak. The seizure was followed by transient left arm paresis. A similar sleep-related seizure occurred 2 months later, when he was first examined as an outpatient. Neurologic examination was normal. EEG showed normal background activity and a right high-voltage central spike focus. Despite phenobarbital (PB) treatment, left brachiofacial or left unilateral convulsive seizures persisted, with monthly recurrence. Seizures were strictly sleeprelated, lasted 2-10 min, and were followed by left arm paresis and dysarthria whose transiency was related to the seizure duration. He had no secondarily generalized seizure. Treatment with a combination of PB and carbamazepine (CBZ) and then CBZ and valproate (VPA) with optimal plasma drug levels had no clinical effect. EEGs performed twice yearly continued to show frequent or almost continuous right rolandic discharges (Fig. 1). Rarely, an independent left centrotemporal focus occurred (Fig. 2). NREM and REM sleep further increased right central discharges. A first computed tomography (CT) scan performed at age 8 years was judged unremarkable. Somatosensory evoked potentials (SEPs) showed normal short and mid-long latency responses except for the left median nerve stimulation, which showed a negative peak of 149V 60 ms after stimulation. CASE REPORT An 18-year-old boy with no family history of epilepsy had two simple febrile convulsions at age 2 years. The first epileptic seizure occurred at age 4 years during sleep, with jerking of the mouth and of Received April 1991; revision accepted July 1991. Address correspondence and reprint requests to Professor G. Ambrosetto at Institute of Neurology, Via Ugo Foscolo 7,40123 Bologna, Italy. 499 G. AMBROSETTO 500 FIG. 1. EEG showing vertex and right central discharges spreading posteriorly. -P.I 6 1 3 y r s February-20-1986 When the child was aged 10 years, the mother reported that her child did not use his left hand much. Neurologic examination disclosed a very slight prominent distally left arm hyposthenia and hypotrophy, difficulty in left finger opposition, and a left P.I. d 8yrs October 1-1981 hand astereognosia. WISC full-scale IQ was 98, verbal IQ was 97, and performance IQ was 98. Cerebral CT scan showed right parietal hyperdensity with no contrast enhancement. Right carotid angiography was normal. SEPs performed 1 year later 5011vh FIG. 2. EEG showing right discharges, prominent in the central area, and an asynchronous spike focus involving the left central and midtemporal regions. Epilepsin, Vol. 33, N o . 3 , 1992 OPERCULAR MACROGYRIA AND BECTS were normal; in particular, N60 wave from the left median nerve stimulation was 21V. Sleep-related left unilateral seizures persisted monthly until age 14 years, when epileptic attacks ceased abruptly. Right central spike focus also disappeared, whereas left centrotemporal discharges persisted transiently until age 15 years. Left arm deficit remained unchanged. Magnetic resonance imaging (MRI) showed right opercular macrogyria (Fig. 3). CT scan confirmed this finding. WAIS fullscale IQ was 97, verbal IQ was 97, and performance IQ was 98. Antiepileptic drugs (AEDs) were gradually discontinued at age 16 years, with no relapse. DISCUSSION The patient’s epilepsy showed the electroclinical and evolutive patterns of BECTS. Epilepsy began in the first decade of life, after several febrile convulsions, and ceased around puberty (Lerman, 1985; Loiseau et al., 1988). Seizures were exclusively sleep-related, involved a hemiface or half of the body (Loiseau and Beaussart, 1973), and never entailed a persistent postictal deficit, even when they were long-lasting (Dalla Bernardina and Beghini, 1985). The patient had no intellectual deficit nor a history of antecedent illness. Interictal EEGs showed rolandic discharges increased by sleep (Dalla Bernardina and Beghini, 1985). SEPs showed giant evoked responses (Plasmati et al., 1990). The long duration of the active epilepsy and the frequent recurrence of the seizures could be considered atypical findings. Nevertheless, a long active period, although uncommon, was reported previously (Beaussart and Loiseau, 1973). BECTS is an age-related epileptic syndrome that tends to disappear at a certain age, regardless of age at on- 501 set. According to Loiseau et al., (1988) “the earlier the onset, the longer will be the active period.” Epileptic seizures are usually rare, but frequent recurrence during all evolution of epilepsy appears to be a characteristic of several patients (Ambrosetto et al., 1987). Furthermore, the structural brain lesion could have influenced both duration of active epilepsy and frequency of seizure recurrence negatively. The relationship between a structural brain lesion and an epileptic syndrome may be twofold, casual or causal. In an idiopathic epilepsy, such as BECTS, this association must necessarily be casual, and this is how the sporadically reported cases of BECTS and brain lesion have been interpreted (Mambelli et al., 1985, Santanelli et al., 1989). The major factor supporting this interpretation is that the brain lesions were seldom located in the rolandic area. The only two cases of BECTS and perirolandic lesion, a sylvian scissure enlargement (Morikawa et al., 1979) and a sylvian arachnoid cyst (Moscano et al., 1985) showed no concordance between focal brain damage and clinical seizures and/ or interictal rolandic discharges. Thus, a particular brain lesion noted in BECTS patients is properly considered a fortuitous additional factor that may contribute to cause a hereditary predisposition to become a clinical condition by further lowering an already genetically low epileptogenic threshold (Santanelli et al., 1989). In our patient, such an interpretation apparently is inapplicable for several reasons. First, the structural brain lesion was rolandic. Second, during 10 years of active epilepsy, motor ictal involvement was exclusively contralateral to the side of the opercular macrogyria, and a concordant EEG focus persisted for the same period of time. Third, a slight FIG. 3. Magnetic resonance imaging scan showing right hemisphere hypoplasia and thick and smooth cortex in right central region surrounding a large central sulcus. Less evident cortex abnormality extended to the right frontal and occipital areas. Epilepsia, Vol. 33, No. 3, 1992 502 G . AMBROSETTO neurologic deficit occurred, undoubtedly the result of the brain structural alteration. Finally, SEPs exploring the abnormal cortex function directly paralleled the clinical evolution, being giant during seizure recurrence and decreasing at neurologic deficit occurrence. Unlike the previously reported cases of brain-damaged BECTS patients, in our patient the opercular macrogyria is apparently an acceptable causal factor of epilepsy. Opercular macrogyria is usually related to intractable epilepsy, mental retardation, and dysarthria. The attempt to explain why in our patient a BECTSlike epilepsy was sustained is open to speculation. Reported epileptic patients with opercular macrogyria usually had bilateral lesions that might have aggravated their clinical condition (Kuzniecky et al., 1989; Becker et al., 1989). Nevertheless, similarities exist between BECTS and opercular macrogyria-related epilepsy. The characteristic sleeprelated oral motor seizures of BECTS have also been reported in patients with bilateral central macrogyria (Ambrosetto and Tassinari, 1990). Inversely, atonic drop attacks, a predominant epileptic pattern in bilateral central macrogyria (Kuzniecky et al., 1989) have been described in patients with BECTS when the ictal rolandic discharge immediately spreads to the contralateral homologous area (Kanazawa and Kawai , 1990). Hereditary predisposition is a crucial factor in the etiology of idiopathic epilepsies. Genetic studies confirmed an autosomal-dominant genetic trait with age-dependent penetrance in BECTS (Bray and Wiser, 1965; Heijbel et al., 1975). Genetic and/or chromosomal causes also affect neuronal migration (Barth, 1987) and bilateral opercular macrogyria has been reported in identical twins (Graff Radford et al., 1986). To our knowledge, neuronal migration disorders (NMDs) have never been previously reported in relation to a BECTS-like epilepsy, perhaps because neuroradiologic procedures are considered unnecessary in BECTS children and CT studies consequently are scarce. Nevertheless, CT scan is probably performed if a particular patient shows atypical features such as persistent seizure recurrence and/ or long active epilepsy duration, as did our patient. Thus, this case report is probably exceptional in this respect, and we do not recommend further CT studies in BECTS. On the contrary, MRI studies are completely lacking in BECTS. MRI is known to be superior to CT in detecting minimal cortical lesions (Heinz et al., 1988). We believe that MRI studies in BECTS patients might be helpful in disclosing further underlying structural lesions in cases Epilepsia. Vol. 33, No. 3, 1992 of apparently idiopathic epilepsy. Unfortunately, MRI is an expensive technique and requires anesthesia in children. Furthermore, patients in whom BECTS is a transient expression of a lesional epilepsy are rare (Ambrosetto and Gobbi, 1975). Therefore, MRI examination is indicated only when a patient’s clinical picture is unusual. If further similar cases are reported, pathologic studies in BECTS, even if extremely difficult to obtain, are crucial to elucidate the pathophysiology of idiopathic partial epilepsies. In a study of neuropathologic findings (Meencke and Janz, 1984), 7 of 8 patients with idiopathic generalized epilepsy had marked cerebral microdysgenesis with varying diffuse distribution. It is logical that the same maturation disturbance with focal distribution is the morphologic substrate of the underlying functional disorder in idiopathic partial epilepsies. REFERENCES Ambrosetto G , Gobbi G. Benign epilepsy of childhood with rolandic spikes, or a lesion? EEG during a seizure. Epi/epsia 1975;16:7934 Ambrosetto G, Giovanardi Rossi P, Tassinari CA. Predictive factors of seizure frequency and duration of antiepileptic treatment in rolandic epilepsy: a retrospective study. Brain Dev 1987;9:300-4. Ambrosetto G, Tassinari CA. Sleep-related focal motor seizures in bilateral central macrogyria. Ann Neurol 1990;28:840-1. Barth PG. Disorders of neuronal migration. Can J Neurol Sci 1987;14:1-16. Beaussart M, Loiseau P. Evolution et pronostic de l’kpilepsie a paroxysmes rolandiques. In: Lugaresi E, Pazzaglia P, Tassinari CA, eds. Evolution and prognosis of epilepsies. Bologna: A. Gaggi, 1973:215-28. Becker PS, Dixon AM, Troncoso JC. Bilateral opercular polymicrogyria. 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RkSUME Les auteurs rapportent I’observation d’un jeune homme intellectuellement normal, AgC de 18 ans, qui prCsentait de frkquentes crises brachio-faciales gauches ou motrices, ayant dCbutC a I’Age de 4 ans, et ayant cessC dix ans plus tard. Les crises survenaient uniquement pendant le sommeil. I1 n’y avait pas eu de rechute aprks I’arret des medicaments antitpileptiques. Une discrkte partsie du membre supCrieur gauche et une astCrCognosie de la main gauche avaient CtC constattes I’bge de 10 ans. les EEG de veille montraient la persistance de dCcharges rolandiques droites, augmentees par le sommeil. Les potentiels CvoquCs somatosensitifs Ctaient gCants aprts stimulation du nerf median gauche. La tomodensitomttrie et I’IRM ont mis en evidence une macrogyrie operculaire droite. Les auteurs suggerent que la ltsion structurelle Ctait responsable de cette Cpilepsie partielle “idiopathique”. D’autres observations similaires et des Ctudes neu- 503 ropathologiques pourront tlucider le substratum morphologique du dksordre fonctionnel sous-jacent aux Cpilepsies partielles idiopathiques. (P. Genton, Marseille) RESUMEN Un muchacho epilCptico de 18 anos de edad y mentalmente normal padecia ataques frecuentes que afectaban a1 brazo y la cara del lado izquierdo o ataques motores unilaterales que empezaron a la edad de 4 ahos y cesaron diez anos miis tarde. Los ataques se producian esclusivamente durante el suefio. N o se observ6 una reaparicion de 10s ataques tras la interrupcion de la medication antiepilCptica (AED). A la edad de 10 anos se observo una ligera paresia del brazo izquierdo y una astereognosia de la mano izquierda. Los EEGs en vigilia mostraron descargas rolhndicas persistentes en el lado derecho que se incrementaron durante el suefio. Los potenciales evocados somatosensoriales (SEPs) fueron gigantes tras la estimulaci6n del nervio mediano. La tomografia computerizada (CT) y la Resonancia MagnCtica (MRI) mostraron una macrogiria opercular derecha. Se sugiere que este lesion estructural cerebral esta relacionada causalmente con esta “idiopiitica” epilepsia parcial. Casos semejantes y estudios patologicos pod&, en un futuro, aclarar 10s substratos morfol6gicos de las alteraciones funcionales subyacentes en epilepias parciales idiopiiticas. (A. Portera-Siinchez, Madrid) ZUSAMMENFASSUNG Ein 18 jahriger intellektuell unbeeintrachtiger Junge litt unter haufigen linksseitigen brachio-facialen oder unilateralen motorischen Anfallen, die mit 4 Jahren begonnen hatten und 10 Jahre spater aufhorten. Es handelte sich ausschliel3lich um schlafgebun-dene Anfalle. Der Medikamentenreduktion folgte kein weiterer An-fall. Mit 10 Jahren trat eine leichte Armparese links mit Astereognosie der Hand auf. Die Wach-EEGs zeigten konstant rechtsseitig rolandische Entladungen, die sich im Schlaf vermehrten. Die somatosensorischen evozierten Potentiale waren bei linksseitiger Medianus-Stimulation riesig. Im Computertomogramm und im NMR fand sich eine operkulare Makrogyrie rechts. Wir vermuten, daR die strukturelle Hirnlasion ursachlich fur diese sonst idiopathische Patialepilepsie verantwortlich war. Weitere Fallberichte und pathologische Untersuchungen konnten das morphologische Substrat der unterliegenden funktionellen Storungen bei der idopathischen Patialepilepsie klaren. (C. G. Lipinski, HeidelberglNeckargemund) Epilepsia, Vol. 33, No. 3, 1992