We report an unusual association between idiopathic occipital epilepsy and childhood absence epilepsy
in 2 pediatric patients. At first clinical and electroencephalographic evaluation, the patients presented
the peculiar signs of idiopathic occipital epilepsy Gastaut type: focal sensory visual seizures, migrainelike
symptoms (only in one patient) and unilateral spike–wave discharges over occipital regions. Both
children were treated with valproic acid and their seizures were rapidly controlled. After a seizure-free
period, the patients presented typical absence with ictal electroencephalographies showing 3 cycles/s
generalized and symmetrical spike–wave complexes. We discuss the possible association between these
two epileptic syndromes and its common pathophysiological mechanisms

CHIARELLI F.

COPPOLA, Giangennaro

D'EGIDIO C

PARISI P

VERROTTI A

English

Archivio della Ricerca - Università di Salerno

Seizure 19 (2010) 368–372Case reportGastaut type-idiopathic childhood occipital epilepsy and childhood absenceepilepsy: A clinically significant association?Alberto Verrotti a,*, Giangennaro Coppola b, Claudia D’Egidio a, Pasquale Parisi c, Francesco Chiarelli aa Department of Paediatrics, University of Chieti, Via dei Vestini 5, 66100 Chieti, Italyb Department of Child Neuropsychiatry, University of Naples, Naples, Italyc Chair of Paediatrics, II Faculty of Medicine, Sapienza University, Rome, ItalyA R T I C L E I N F OArticle history:Received 29 December 2009Received in revised form 10 March 2010Accepted 9 April 2010Keywords:Idiopathic occipital epilepsyChildhood absence epilepsyEEGA B S T R A C TWe report an unusual association between idiopathic occipital epilepsy and childhood absence epilepsyin 2 pediatric patients. At first clinical and electroencephalographic evaluation, the patients presentedthe peculiar signs of idiopathic occipital epilepsy Gastaut type: focal sensory visual seizures, migraine-like symptoms (only in one patient) and unilateral spike–wave discharges over occipital regions. Bothchildren were treated with valproic acid and their seizures were rapidly controlled. After a seizure-freeperiod, the patients presented typical absence with ictal electroencephalographies showing 3 cycles/sgeneralized and symmetrical spike–wave complexes. We discuss the possible association between thesetwo epileptic syndromes and its common pathophysiological mechanisms. 2010 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.Contents lists available at ScienceDirectSeizurejournal homepage: www.e lsev ier .com/ locate /yse iz1. IntroductionGastaut type-idiopathic childhood occipital epilepsy (G-ICOE)or idiopathic childhood occipital epilepsy of late onset is a rareepileptic syndrome often with onset ranging from 3 to 15 yearswith a mean around 8 years of age. It is a pure form of idiopathicoccipital epilepsy, included among the idiopathic focal epilepsiesin childhood1 with an uncertain long-term prognosis.2–6 Seizure ispurely occipital, frequent, brief and diurnal. They comprise simplepartial seizures characterized by initial visual hallucinations(phosphenes and/or ictal blindness and illusions); ictal or postictalmigraine headaches occur in half of the patients. Impairment ofconsciousness is rare unless associated with hemi-clonic orgeneralized convulsions.7 Interictal electroencephalographies(EEGs) reveal occipital spike–wave paroxysms that attenuatewhen the eyes are opened.3,5 The prognosis is unclear, althoughavailable data indicate that remission occurs in 50–60% of patientswithin 2–4 years from onset. However, 40–50% of patients maycontinue to have visual seizures and infrequent secondarygeneralized tonic-clonic seizures, particularly if they have notbeen appropriately treated.2Rarely, atypical evolutions to epilepsy with continuous spike–waves during slow wave sleep with cognitive deterioration havebeen reported.8To best of our knowledge, only 8 cases of G-ICOE with anunusual association to childhood absence epilepsy (CAE), appeared* Corresponding author. Tel.: +39 09871 358015; fax: +39 0871 574831.E-mail address: averrott@unich.it (A. Verrotti).1059-1311/$ – see front matter  2010 British Epilepsy Association. Published by Elsedoi:10.1016/j.seizure.2010.04.010either at the different times after the onset of occipital seizures orconcomitantly, have been previously reported in the literature,8–10and it has been suggested a possible relationship between G-ICOEand CAE.We report other 2 patients who initially suffered from clinicaland electroencephalographic features of G-ICOE, and, successively,they presented CAE.Our aim is to report the association between G-ICOE and CAE inthe same patients, in order to give a contribution to the knowledgeof potential link between these two syndromes.2. Case report 1A 6.8-year-old male child was referred to Department ofPediatrics, University of Chieti, for visual hallucinations withimpairment of consciousness. He was born at 40 weeks after anuneventful pregnancy and normal vaginal delivery, with an Apgarscore of 9 at both 10 and 50. Psychomotor development was normal.His personal medical history was negative for other paroxysmalneurological phenomena and positive for two episodes of simplefebrile seizures. He was the second child of parents who were notconsanguineous. His 10.2-year-old brother was well. No othermembers of the family were affected by epilepsy and there was nofamily history of neurological diseases, except for paternal febrileseizures.During hospitalization, he presented many episodes of visualseizures, such as elementary and complex visual hallucinations,visual illusion, blindness or partial loss of vision, sensoryhallucinations, and/or deviation of the eyes associated withipsilateral turning of the head, at times followed by impairmentvier Ltd. All rights reserved.A. Verrotti et al. / Seizure 19 (2010) 368–372 369of the consciousness and/or hemiconvulsions, generalized tonic-clonic seizures, and migraine-like symptoms. Interictal EEGdemonstrated high-amplitude occipital spikes or spike–waves,on right hemisphere, reactive or not to eye opening; sometimes,occipital paroxysms were activated by intermittent photicstimulation (IPS) (Fig. 1a). Neurological examination and brainMRI were normal; moreover, celiac disease was excluded by theevaluation of anti-tissue transglutaminase antibodies and anti-endomysium antibodies.We started therapy gradually with valproic acid (VPA) and after4 weeks from the beginning of therapy the patient reached thedosage of 30 mg/kg/day. After 6 months from the beginning of VPAtherapy, he was seizure-free, and his EEG showed no epileptiformactivity (Fig. 1b).In the next 2 years, the patients continued to be seizure-free andthe EEG persisted normal; therefore, after 2 years from thebeginning of VPA therapy, the patient stopped the treatment.After 1 year from the withdrawal of the therapy the patientpresented a typical absence seizure.The onset of episode was abrupt and characterized by severeimpairment of consciousness with complete loss of awareness. Thechild stopped talking and walking and remained motionless withvacant eyes staring upwards. He was totally unresponsive from theonset to the end of the terminal phase of the discharge. The attackended abruptly and the child was unaware of the episode,resuming pre-ictal activity as if nothing had happened. Theduration of seizure was around 8–12 s. Many other episodesoccurred during the new hospitalization and an increasedincidence of seizures in the evening was observed. The seizuresduration ranged from 4 to 10 s. Ictal EEG (Fig. 2a) showedgeneralized, high-amplitude spike–wave activity at 3 Hz, with aregular rhythm of the discharge and well-formed spikes whichretained a constant relation with the slow-waves. A normalbackground activity was present; typical attacks were provoked byprolonged hyperventilation while the response to IPS was notfound. Sleep EEG was normal (Fig. 2b).Ethosuximide (ETS) was prescribed at the dosage of 32 mg/kg/day, and in the next days absence seizures disappeared.At his last examination, after 12 months from the beginning ofETS therapy, he was seizure-free and his EEG was normal.3. Case report 2A 7.5-year-old male child, born from non-consanguineoushealthy parents, was referred to Department of Child Neuropsy-chiatry, University of Naples, for visual seizures. He was born atfull-term after an uneventful pregnancy and delivery, and hisApgar scores were 8 and 10 at 10 and 50 respectively. Psychomotormilestones were reported as normal and his past medical historywas unremarkable.The child manifested visual symptoms including brief episodesof blindness affecting one or both eyes (‘‘I cannot see anything inthe lower part in front of me’’), or, on occasion, isolated white spotsand coloured strings in both eyes. Wake EEG recordings showedsynchronous or unilateral brief spike–wave discharges in theparietal-occipital regions, sometimes blocked by eye opening.Neurological examination and brain MRI were normal and celiacdisease was ruled out.Treatment with VPA (20 mg/kg/day) was undertaken andseizures were well controlled. At the age of 9 and a half years,treatment was withdrawn because of gastric pain and hyper-transaminasemia associated with drug therapy.After VPA was withdrawn, the patient remained seizure-free for4 months, at which point recurrent brief episodes of staring andunresponsiveness, together with head and eye turning to one sideappeared.At the age of 9.9 years, brief episodes of absence characterizedby fixed gaze, a brief upward rotation of the eyes, interruption ofongoing activities and wake EEG recording showed typical absenceseizures associated with 3 cycles/s. Generalized and symmetricalspike–wave complexes lasting about 6–8 s. Visual hallucinationswere not reported anymore.Presently, absence seizures are completely controlled by ETS(25 mg/kg/day); and after 1 year of follow-up, the patient isseizure-free and his cognitive and neurological examination arewithin normal range.4. DiscussionThese two patients suggest a relationship between G-ICOE andCAE. In fact, these patients presented typical clinical andelectroencephalographic signs of G-ICOE, with seizures startingwith visual symptoms, sensory hallucinations, and/or deviation ofthe eyes associated with ipsilateral turning of the head andmigraine-like symptoms. It is interesting that in both cases CAEappeared isolated: in the first case CAE appeared after 1 year fromVPA withdrawal, while in the second case a few months after thewithdrawal of the VPA therapy. Both patients exhibited a seizure-free period between the two types of epilepsy: specifically, the firstpatient showed a seizure-free period of 36 months, while thesecond patient had a shorter seizure-free period (4 months).The association between G-ICOE and CAE has been previouslyreported by Caraballo et al.,9,10 who describe 8 cases of idiopathicoccipital seizures and CAE in the same children. Indeed, in onepaper10 they reported 6 cases of G-ICOE and CAE appearing in thesame children. Five of them presented G-ICOE and the other onesuffered from Panayiotopoulos type childhood occipital epilepsy.The patients with G-ICOE exhibited the following ictal manifesta-tions: focal sensory visual seizures in all five children, with positivesymptomatology in three and negative in two, followed by hemi-clonic seizures in four patients and versive tonic deviation of theeyes in one patient. All of them presented migraine-like episodes.Three of these children presented both syndromes at the sametime, while the other three had typical absence after 1 year fromthe onset of I-GCOE. In a subsequent paper,9 the same authorsreported 2 girls and 1 boy with clinical and EEGs of G-ICOE,showing an unusual evolution. Interictal EEG showed bilateraloccipital spike–wave activated by eyes closing. In two patients, theoccipital seizures had been immediately followed by typicalabsences, since the onset of I-GCOE; in the other patient, theabsences appeared 5 months after onset of occipital epilepsy. IctalEEG showed irregular bilateral spike–wave discharges during thevisual symptoms, followed by generalized spike–wave activityduring the typical absences.Our two cases are interesting because they present CAE afterthe disappearance of G-ICOE, while in the patients reported byCaraballo et al.9 the ictal EEG showed CAE appearing immediatelyafter bilateral occipital spike–wave discharges.It is difficult to determine if this unusual evolution is due to aclose genetic relationship between G-ICOE and CAE, or if theseelectroclinical features represent two types of idiopathic epilepticsyndromes that appear in the same patient casually. If they shareda strong genetic link, case reports of their co-occurrence in thesame subject surely would not be so rare. It is most unlikely that acommon, genetically transmitted mechanism is responsible forthese two epileptic conditions, as has been previously suggested.11Similarly, there are other possible associations between focalepilepsies and CAE. In particular, Gambardella et al.12 reported 3children who experienced CAE 1–4 years after recovering from anelectroclinical picture characteristic of idiopathic localization-related epilepsies (ILRE). Their cases showed centrotemporal,frontal and early onset occipital paroxysms respectively. More-Fig. 1. (a) Interictal EEG showing occipital paroxysm on right derivations when the eyes are closed. (b) Normal interictal EEG at 6 months follow-up from the beginning of VPAtherapy.A. Verrotti et al. / Seizure 19 (2010) 368–372370over, Echenne et al.13 reported two cases of simultaneousoccurrence in two families with typical absence seizures andapparently ILRE, but few details are given. Finally, Agathonikouet al.14 described 2 cases of benign epilepsy with centrotemporalspikes later manifesting with CAE and generalized tonic-clonicseizures. The occurrence of typical generalized 3 Hz spike-and-wave discharges has led to speculation about a neurobiologic andgenetic continuum between CAE and benign focal epilepsies11 andour cases seem to support the probability of this continuum.To date, it is still unknown if CAE and idiopathic focal epilepsiesare distinct in etiology.11 An autosomal dominant pattern for theEEG abnormalities, with age-dependent expression and variablepenetrance of the seizure disorder has been proposed.15 Recently,Caraballo et al.9 have suggested that the atypical evolution of G-ICOE may be due to secondary bilateral synchrony: a thalamo-cortical mechanism may be involved.16 However, ictal single-photon emission computed tomography in absence seizure mayreveal the neuronal mechanisms involved, indicating a differentorigin.17 Focal seizures and absences may be combined so thatwhen the basal ganglia are activated, focal or generalized seizuresmay arise, and when the thalami are activated, absence seizuresmay be triggered.17Fig. 2. (a) The ictal EEG showing generalized spike–wave activity during a typical absence, after 3 years from onset of G-ICOE. (b) Sleep EEG characterized by slow waveactivity and typical spindles.A. Verrotti et al. / Seizure 19 (2010) 368–372 371Koutroumanidis et al.18 proposed another possible mechanismfor the focal trasformation of generalized discharges and seizures,based on the well-accepted concept of uneven (nonlocalized focalor regional) cortical hyperexcitability and the relevant EEG; theyhypothesize that existing hyperexcitable cortical areas or systemsmay continue firing independently after the inhibition of diffuse/generalized cortico-thalamic oscillations.Our cases imply the possibility of a link between G-ICOE andCAE; because CAE appears after recovering from G-ICOE, theysuggest the existence of unknown mechanisms that could explainthe relationship between these two syndromes.In conclusion, our experience confirms that the existence of alink between I-GCOE and CAE must be considered, because it ispossible to observe the occurrence of CAE in patients with I-GCOE,despite the fact this occurrence seems very uncommon and itsprecise delineation is still unclear. Hence, larger population basedstudies are needed to assess the prevalence of CAE in patients withI-GCOE.A. Verrotti et al. / Seizure 19 (2010) 368–372372References1. Engel Jr J. Classification of epileptic disorders. Epilepsia 2001;42:316.2. Panayiotopoulos CP. Benign childhood partial seizures and related epilepticsyndromes. London: John Libbey & Company Ltd.; 1999.3. Gastaut H. A new type of epilepsy: benign partial epilepsy of childhood withoccipital spike–waves. Clinical Electroencephalography 1982;13:13–22.4. Gastaut H, Zifkin BG. Benign epilepsy of childhood with occipital spike andwave complexes. In: Andermann F, Lugaresi E, editors. Migraine and epilepsy.Boston: Butterworths; 1987. p. 47–81.5. Gastaut H, Roger J, Bureau M. Benign epilepsy of childhood with occipitalparoxysms. Up-date. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A,Wolf P, editors. Epileptic syndromes in infancy, childhood and adolescence.London: John Libbey & Company Ltd.; 1992. p. 201–17.6. Chahine LM, Mikati MA. Benign pediatric localization-related epilepsies. Epi-leptic Disorders 2006;8:243–58.7. Panayiotopoulos CP. Panayiotopoulos syndrome: a common and benign childhoodepileptic syndrome. London: John Libbey & Company Ltd.; 2002.8. Tenembaum S, Deonna T, Fejerman N, Medina C, Ingvar-Maeder M,Gubser-Mercati D. Continuous spike–waves and dementia in childhoodepilepsy with occipital paroxysms. Journal of Epilepsy 1997;10:139–45.9. Caraballo RH, Cersósimo RO, Fejerman N. Late onset, ‘‘Gastaut type’’, childoodoccipital epilepsy: an unusual evolution. Epileptic Disorders 2005;7:341–6.10. Caraballo RH, Sologuestua A, Grañana N, Adi JN, Cersósimo RO, Mazza E, et al.Idiopathic occipital and absence epilepsies appearing in the same children.Pediatric Neurology 2004;30:24–8.11. Gelisse P, Genton P, Bureau M, Dravet C, Guerrini R, Viallat D, et al. Are theregeneralised spike waves and typical absences in benign rolandic epilepsy? Brain& Development 1999;21:390–6.12. Gambardella A, Aguglia U, Guerrini R, Morelli F, Zappia M, Quattrone A.Sequential occurrence of benign partial epilepsy and childhood absence epi-lepsy in three patients. Brain & Development 1996;18:212–5.13. Echenne B, Rivier F, Roubertie A, Touzery A, Humbertclaude V. Simulteneousoccurrence of benign partial epilepsy and childood absence epilepsy: report of 2cases in 2 families. Epilepsia 1997;38:S120.14. Agathonikou A, Panayiotopoulos CP. Benign partial epilepsy with centrotem-poral spikes and idiopathic generalized seizures. Epilepsia 1996;37:S86.15. Kuzniecky R, Rosenblatt B. Benign occipital epilepsy: a family study. Epilepsia1987;28:346–50.16. Tenembaum S, Deonna TW, Fejerman N, Medina C, Ingvar-Maeder M, Gubser-Mercati D. Continuous spike–waves and dementia in childhood epilepsy withoccipital paroxysms. Journal of Epilepsy 1991;10:139–45.17. Iannetti P, Salice A, De Luca F, Boemi S, Festa A, Maini CL. Ictal single photonemission computed tomography in absence seizures: apparent implication ofdifferent neuronal mechanisms. Journal of Child Neurology 2001;16:339–44.18. Koutroumanidis M, Tsiptsios D, Kokkinos V, Lysitsas K, Tsiropoulos I. Generalizedspike–wave discharges and seizures with focal ictal transformation: mechanismsin absence (CAE) and myoclonic (JME) IGEs. Epilepsia 2009;50:2326–9.

Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association?

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Gastaut type-idiopathic childhood occipital epilepsy and childhood absence epilepsy: a clinically significant association?

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