Panayiotopoulos syndrome: Unusual clinical manifestations.

PURPOSE: We retrospectively analyzed the electroclinical features, treatment, and outcome of patients with Panayiotopoulos syndrome (PS) who presented with unusual clinical manifestations. METHOD: A retrospective, descriptive, multicenter study was conducted evaluating 44 patients with PS who had seizures with an unusual semiology. Data from patients with PS seen at eight Argentine centers between April 2000 and April 2019 were collected. RESULTS: Twelve patients (29.2%) had ictal syncope or syncope-like epileptic seizures. Three children (7.3%) had recurrent episodes of vomiting. Four patients (9.7%) presented with urinary incontinence associated with autonomic signs and consciousness impairment. One child had hiccups with autonomic manifestations followed by eye deviation. One boy had episodes of laughter with autonomic symptoms followed by loss of consciousness. Six patients (14.6%) had hyperthermia without acute febrile illness with autonomic symptoms as the first manifestation. Six others (14.6%) had focal motor seizures characterized by eye and head deviation in four and eyelid blinking in two. Four patients (9.7%) had ictal headache as the initial manifestation followed by nausea and vomiting. Two children (4.8%) had their first seizure while asleep associated with cardiorespiratory arrest. Two children (4.8%) had oral automatisms, such as sucking and chewing. In two children (4.8%) coughing was the initial manifestation followed by emetic symptoms. One patient (2.3%) had vertigo with a sensation of fear, with eye deviation and unresponsiveness. One child started with continuous spikes and waves during slow sleep, behavior disturbances, and emetic symptoms. CONCLUSION: In this study, evidence of the existence of unusual clinical cases of PS with typical EEG patterns was found. Outcome was excellent.

More than one self-limited epilepsy of childhood in the same patient: A multicenter study.

OBJECTIVE: We describe the evolution of the electroclinical picture of patients with different types of self-limited epilepsy of childhood (SLEC) occurring at the same or at different times with or without atypical evolutions as well as patients with SLEC associated with childhood absence epilepsy (CAE). MATERIAL AND METHODS: A multicenter, retrospective, descriptive study was conducted evaluating patients with SLEC who had focal seizures of different types of SLEC including atypical evolutions as well as SLEC associated with absence epilepsy seen at eight Argentinian centers between April 2000 and April 2019. Of 7705 patients with SLEC, aged between 2 and 14 years (mean, 7.5 years), of whom 2013 were female and 5692 male (ratio, 1:2.8), 5068 patients had SLECTS, 2260 patients had self-limited childhood occipital epilepsy Panayiotopoulos type (SLE-P), 356 had self-limited childhood occipital epilepsy Gastaut type (SLE-G), and 21 had self-limited epilepsy with affective seizures (SLEAS). Electroclinical features typical of more than one SLEC syndrome were recognized in 998 (13 %) children. RESULTS: We recognized three well-defined groups of patients. The most frequent association was SLE-P and SLECTS, the paradigmatic type, but associations of SLE-P and SLE-G, SLECTS and SLE-G, and SLEAS and SLE-P or SLECTS were also recognized. The second-most-common association was SLEC and an atypical evolution. In this group, the most frequent combination was SLECTS with its atypical evolution, opercular status epilepticus, epileptic encephalopathy with continuous spike-and-waves during slow sleep, or Landau-Kleffner syndrome. SLE-P and SLE-G associated with an atypical evolution were also identified. The third, less-frequent group had SLECTS, SLE-P, or SLE-G associated with CAE. These cases support the concept that the different types of SLEC are part of a self-limited childhood seizure susceptibility syndrome. CONCLUSION: Our study demonstrated that 13 % of our patients with SLEC have with different types of SLEC occurring at the same or at different times with or without atypical evolutions - i.e. CSWSS - as well as patients with SLEC associated with CAE, supporting the concept of the self-limited childhood seizure susceptibility syndrome.

Self-limited epilepsy of childhood with affective seizures: A well-defined epileptic syndrome?

OBJECTIVE: Here we present cases of focal epilepsy with affective symptoms analyzing seizure characteristics, EEG pattern, treatment, and outcome. METHODS: A multicenter, descriptive, retrospective study was conducted evaluating 18 patients with self-limited epilepsy who presented with seizures with affective symptoms seen between April 2000 and April 2018 at eight Argentinian centers. RESULTS: Eighteen patients had focal seizures with affective symptoms; all of them had affective symptoms characterized by sudden fright or terror and screaming. Seizures started with manifestations of sudden fright or terror manifested by a facial expression of fear; consciousness was mildly impaired in 15/18 patients. Eleven of the patients also had autonomic manifestations, such as pallor, sweating, and abdominal pain. In addition, four of these 11 patients had ictus emeticus and one also presented with unilateral deviation of the eyes and head. Speech arrest, salivation, glottal noises, and chewing or swallowing movements were observed in 2/18 patients at the onset of the affective seizures. Two others also had mild asymmetric dystonic seizures involving both hands and arms. Three patients had tonic deviation of the mouth involving the lips and tongue as well pharyngeal and laryngeal muscles, resulting in anarthria and drooling. Two patients had brief hemifacial focal clonic seizures. CONCLUSION: Affective manifestations associated or not with motor and/or autonomic manifestations and associated with typical EEG features of the idiopathic focal epilepsies of childhood is a particular presentation of self-limited focal epilepsy in childhood.

Self-limited epilepsy with centro-temporal spikes: A study of 46 patients with unusual clinical manifestations.

PURPOSE: We retrospectively analyzed the seizure characteristics, EEG pattern, treatment, and outcome in a series of patients with self-limited epilepsy with centrotemporal spikes (SLECTS) who presented with unusual clinical manifestations. METHOD: A retrospective, descriptive, multicenter study was conducted evaluating 46 patients with SLECTS who had seizures with an unusual semiology. We collected data from patients with SLECTS seen at eight Argentine centers between April 1998 and April 2018. RESULTS: Thirteen patients (28.2 %) had seizures with affective symptoms characterized by sudden fright and autonomic disturbances and mild impairment of consciousness. Eleven patients (24.8 %) had frequent seizures characterized by unilateral facial sensorimotor symptoms, oropharyngolaryngeal manifestations, and speech arrest with sialorrhea only when awake. Seven patients (15.3 %) started with opercular epileptic status with unilateral or bilateral clonic seizures of the mouth with speech arrest and sialorrhea when awake and during sleep. Seven patients (15.3 %) had postictal Todd's paralysis after unilateral clonic seizures with facial and limb movements lasting between 60 min and 130 min. Six patients (13 %) had negative myoclonus, two in a unilateral upper limb, two in a unilateral lower limb, and the remaining two patients had frequent falls. One patient (2.1 %) had focal sensorimotor seizures characterized by unilateral numbness in the cheeks and one upper limb, additional to unilateral facial clonic seizures, speech arrest, and sialorrhea. The remaining patient (2.1 %) had sporadic focal tonic-dystonic seizures in the left upper limb only during sleep. CONCLUSION: In our study, we found evidence of the existence of unusual clinical cases of SLECTS with typical EEG patterns and an excellent prognosis.

Estimulador del nervio vago: tratamiento en 158 pacientes pediátricos con un largo seguimiento / Vagus nerve stimulation: treatment of 158 pediatric patients with a long-term follow-up

Objetivo. Describir una población pediátrica de pacientes con epilepsia farmacorresistente tratada con estimulador del nervio vago en un hospital nacional de pediatría, evaluando la eficacia, la tolerabilidad y la seguridad del tratamiento. Pacientes y métodos. Se realizó un análisis retrospectivo de 158 pacientes pediátricos seguidos por epilepsia refractaria al tratamiento farmacológico y no farmacológico, incluida la cirugía, que fueron tratados con estimulador del nervio vago entre los años 2001 y 2015. Se excluyeron pacientes con encefalopatías evolutivas y cardiopatías congénitas. Resultados. Se incluyeron 158 pacientes (80 varones) con una edad media de implante de 11,4 años y un tiempo de evolución de epilepsia preimplante de 9,5 años. El tiempo de seguimiento fue de 1-15 años (mediana: 6,9 años); la edad actual de los pacientes, 2-31 años (mediana: 14,1 años). A los 24 meses postimplante, un 66,5% de los pacientes presentó una mejoría mayor o igual al 50% de las crisis previas. Sólo tres pacientes (1,8%) presentaron efectos adversos graves, 26 (16,4%) mostraron efectos adversos menores y 129 (81,8%) no mostraron efectos adversos al tratamiento. Conclusión. La terapia con estimulador del nervio vago en esta serie pediátrica con epilepsia refractaria fue eficaz, bien tolerada y segura (AU)

Aim. To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. Patients and methods. A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded. Results. 158 patients (80 male) were included, with a mean age at implantation of 11.4 years and a mean age at evolution of epilepsy of 9.5 years. Time of follow-up: 1-15 years (median: 6.9 years). Patient’s age at this time: 2-31 years (median: 14.1 years). Effectiveness: 66.5% of patients showed more or equal at 50% of seizure control at 24 months of implant. Just three patients showed severe side effects (1.8%). Minor side effects were seen in 26 patients (16.4%). Without side effects: 129 (81.8%). Conclusion. Vagus nerve stimulation is an effective, tolerable and safe therapy in our pediatric series with refractory epilepsy (AU)

Congenital hemiparesis, unilateral polymicrogyria and epilepsy with or without status epilepticus during sleep: a study of 66 patients with long-term follow-up.

AIM: We retrospectively analysed the electroclinical features, treatment, and outcome in patients with unilateral polymicrogyria (PMG), focussing on epileptic syndrome with or without encephalopathy, with status epilepticus during sleep (ESES) or continuous spikes and waves during slow sleep (CSWS) syndrome. METHODS: From June 1990 to December 2012, 39 males and 27 females, aged 5-26 years, were studied. We did not include patients with bilateral PMG or cases with unilateral PMG associated with other cerebral lesions. The mean follow-up period was 12 years (range: 3-22 years). RESULTS: Mean age at epilepsy onset was 6.5 years. Focal motor seizures occurred in all cases and 25 had secondary generalised seizures. Six patients also had complex focal seizures. Interictal EEG recordings showed focal spikes in all cases. For 43 of 53 patients with epilepsy, aged 2-9.5 years, the electroclinical features changed. An increase in frequency of focal motor seizures was reported in 20 patients, negative myoclonus occurred in 32 patients, atypical absences in 25 patients, and positive myoclonus in 19 patients. All patients had a continuous symmetric or asymmetric pattern of spike-wave activity during slow-wave sleep. CONCLUSION: For patients presenting with congenital hemiparesis, negative or positive myoclonus, and absences and focal motor seizures with ESES/CSWS, unilateral PMG should be considered. Brain MRI is mandatory to confirm this cortical malformation. The most commonly used treatments were clobazam, ethosuximide, and sulthiame, alone or in combination. For refractory cases, high-dose steroids were administered and surgery was performed in two patients. Outcome was relatively benign.

Type II focal cortical dysplasia: electroclinical study and surgical outcome in 31 pediatric patients.

OBJECTIVE: The aim of this study was to analyze the electroclinical features and surgical outcome of 31 pediatric patients with focal cortical dysplasia (FCD) type II. MATERIAL AND METHODS: We conducted a retrospective, descriptive study of 31 patients with FCD type II followed between 1998 and 2011. We included patients with FCD type II confirmed by histopathological examination with abnormal magnetic resonance imaging and at least 1 year of follow-up. RESULTS: All patients had severe focal epilepsy; in infancy, four of them had also had epileptic spasms, associated with hypsarrhythmia in three. Focal status epilepticus occurred in five patients (16 %) and epilepsia partialis continua in one (3.2 %). Seizures occurred during sleep in 20 (64.5 %) and in clusters in 19 (61.3 %) patients. Neurological examination showed a mild motor deficit in seven (22.8 %) patients. Interictal abnormalities were characterized by rhythmic spikes and polyspike discharges, increasing during sleep in 13 (41.9 %) patients. Average time of follow-up after surgery was 4.7 years with a median time of 4 years and a range from 1 to 9 years. Engel classification class I was found in 20 (67.7 %) and class II in 3 cases (9.6 %). There were no significant changes after an average time of follow-up of 4.7 years. CONCLUSION: Our results confirm that surgery is the best treatment option for pediatric patients with refractory focal epilepsy due to type II FCD. A statistically significant correlation was found between a good prognosis and age at epilepsy onset older than 2 years.

Febrile infection-related epilepsy syndrome: a study of 12 patients.

PURPOSE: To analyze the electroclinical features, neuroimaging findings, treatment, and outcome of 12 patients with febrile infection-related epilepsy syndrome (FIRES). METHODS: This is a retrospective study of 12 children with FIRES with a mean time of follow-up of 6.5 years carried out at the Garrahan Hospital of Buenos Aires between 1997 and 2012. RESULTS: Eight males and four females had focal status epilepticus preceded by febrile infection with a mean age at presentation of 8.5 years. In the acute period, the treatment included antiepileptic drugs (AEDs) in all cases, immunotherapy in 10 cases, and burst-suppression coma in eight. The ketogenic diet was tried in two, plasmapheresis in one, and rituximab in one. Two patients treated with IVIG and one patient given steroids had a good response, but in this phase only three patients had a prolonged good response to IVIG and a ketogenic diet. No patients died in this period. In the chronic epilepsy phase, all children had seizures arising from neocortical regions. All patients had refractory epilepsy, and most mental retardation, and behavioral disturbances. All received different AEDs and in this phase a third patient was put on a ketogenic diet. One patient was operated without good results. Only two cases had a good outcome after 2 and 10 years of follow-up. CONCLUSION: FIRES is a well-defined severe epileptic syndrome, probably in the group of epileptic encephalopathies, characterized by focal or multifocal seizures arising from the neocortical regions with an unknown etiology. Immunoglobulin and the ketogenic diet may be considered a potentially efficacious treatment.

Encephalopathy with status epilepticus during sleep or continuous spikes and waves during slow sleep syndrome: a multicenter, long-term follow-up study of 117 patients.

PURPOSE: To retrospectively analyze the electroclinical features, etiology, treatment and prognosis of 117 patients with encephalopathy with status epilepticus during sleep (ESES) or continuous spike and waves slow sleep (CSWSS) syndrome with a long-term follow-up. METHODS: Charts of 117 patients with ESES/CSWSS syndrome followed between 1990 and 2012 were analyzed. Inclusion criteria were: (1) focal seizures or apparently generalized seizures and focal EEG epileptiform discharges; (2) further occurrence of atypical absences, and myoclonic, atonic, and/or generalized seizures; (3) cognitive impairment and/or behavior disturbances; (4) continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep. Patients with spike-and-wave discharges in less than 85% of slow sleep were also analyzed. KEY FINDINGS: 'Mean follow-up from onset of ESES/CSWSS was 13 years (range, 2-22 years) in the symptomatic/structural and non-idiopathic group consisting of 79 children and 10.5 years (range, 2-21 years) in the idiopathic group consisting of 38 children. The comparison of clinical findings and localization of paroxysmal EEG abnormalities (focal, multifocal, or generalized) at the different stages (before, during, and after ESES/CSWSS) and the percentage of spike-wave index during ESES/CSWSS between the symptomatic/structural and non-idiopathic and the idiopathic group was not statistically significant. SIGNIFICANCE: ESES/CSWSS syndrome is an epileptic encephalopathy with similar electroclinical findings in children with a >85% spike-wave index and those with a <85% spike-wave index. In this series of patients, the most commonly used treatments were clobazam, ethosuximide, sulthiame, alone or in combination. In refractory cases, high-dose steroids were administered. Among the AED responders, the idiopathic cases returned to normality and the structural cases returned to baseline cognitive development.

Rasmussen syndrome: an Argentinean experience in 32 patients.

PURPOSE: The aim of this study is to analyze the electroclinical features, treatment, and evolution of patients with Rasmussen syndrome (RS). MATERIALS AND METHODS: We conducted a retrospective, descriptive study in 32 consecutive patients with RS followed between 1990 and 2012. RESULTS: Twenty boys and 12 girls were included in the study. The mean and median ages at onset of the seizures were 6.5 and 7 years, respectively. Twenty-eight cases had epilepsia partialis continua that had started at a mean age of 9.5 years. Fixed hemiparesis occurred within the first two years after seizure onset in 26 patients. The ictal EEG showed a multifocal origin, but confined to the affected hemisphere in all patients. Mild focal atrophy involved the temporo-insular region associated with enlargement of the ipsilateral horn and Sylvian fissure. An abnormal cortical and/or subcortical hyperintense signal was observed in T2 and Flair images in 25 and 17 patients, respectively. T2 hyperintensity and atrophy in the basal ganglia was documented in five patients. Corticosteroids associated with immunoglobulins were used in 25 patients. Surgical treatment was performed in 25 patients. After a mean follow-up of 13 years (range, 2-20) good surgical outcome-- Engel class I--was observed in 23 of 25 patients operated. CONCLUSION: Corticosteroid and intravenous immunoglobulin treatment should be considered in the early stages of the disease. Patients with RS had a good response to surgical excision of the affected hemisphere.

Electroclinical overlap of two types of epileptic encephalopathy occurring in the same children in a certain age period?

In this study, we describe three patients who each had an electroclinical overlap of two different epileptic encephalopathies (EE), with onset in a certain age period. Patient 1 had electroclinical features compatible with continuous spikes and waves during slow sleep (CSWSS) syndrome that changed into Lennox-Gastaut syndrome (LGS) (symptomatic, cause porencephalic cyst) at the age of 8.5 years. Patient 2 had LGS which evolved into CSWSS at the age of 6 years (symptomatic, cause polymicrogyria). The third patient had cryptogenic CSWSS syndrome at age the age of 7 years which evolved into LGS at the age of 7.5 years. All three patients could be considered to have two EE: CSWSS syndrome and LGS or to have had overlapping features of these epileptic syndromes.

Sulthiame add-on therapy in children with focal epilepsies associated with encephalopathy related to electrical status epilepticus during slow sleep (ESES).

PURPOSE: In children with symptomatic or idiopathic focal epilepsies, their disease may evolve into an epileptic encephalopathy related to continuous spike and wave during slow sleep (CSWS) or electrical status epilepticus during slow sleep (ESES). ESES syndrome implies serious risks of neuropsychologic impairment, and its treatment has frequently been disappointing. The aim of this study is to present our experience using sulthiame as add-on treatment in 53 patients with ESES syndrome that was refractory to other antiepileptic drugs (AEDs). METHODS: Neurologic examinations, cerebral magnetic resonance imaging (MRI), and repeated prolonged sleep electroencephalography (EEG) studies were performed in all cases. Data about school achievements and or neuropsychological evaluations were obtained repeatedly during the follow-up of 1.5-16 years. Sulthiame was added in doses ranging between 5 and 30 mg/kg/day. KEY FINDINGS: Since add-on of sulthiame, 10 of 28 patients in the symptomatic group became seizure free: 4 patients with normal EEG studies and 6 with residual spikes. Nine of 28 patients showed a significant reduction in number of seizures and presented spikes but no ESES on EEG. The other nine cases showed neither clinical nor EEG improvement. A striking result was that 3 of 11 children with unilateral polymicrogyria and ESES syndrome became seizure free, and in another six a significant improvement in frequency of seizures and in EEG abnormalities seemed to be related to the add-on of sulthiame. Twenty-one of the 25 patients in the idiopathic group became seizure free and without ESES in <3 months after add on of sulthiame. In two of the patients the changes were seen in a few days. SIGNIFICANCE: We understand that sulthiame may be effective as add-on treatment in children with ESES syndrome.

Hemispherectomy in pediatric patients with epilepsy: a study of 45 cases with special emphasis on epileptic syndromes.

OBJECTIVE: In this study we report the clinical outcomes of hemispherectomy for epilepsy in pediatric patients with special emphasis on the epileptic syndromes and their etiologies. MATERIAL AND METHODS: We retrospectively studied 45 patients with medically refractory epilepsy with hemispheric lesions who underwent hemispherectomy at the "Hospital de Pediatría Prof. Dr. Juan P. Garrahan", Buenos Aires, Argentina between February 1990 and February 2010. Patients had been assessed using a standard protocol involving clinical, neuroradiological, neurophysiological, and neuropsychological teams. RESULTS: Twenty-seven males and 18 females with a mean age of 8.5 years (range, 2 months to 18 years) who underwent epilepsy surgery for refractory epilepsy were assessed. The mean time of follow-up was 9.5 years (range, 1 to 16 years). The following epileptic syndromes were recognized: West syndrome in 15 patients (33.5%), Rasmussen syndrome in 13 (29%), focal symptomatic epilepsy in 8 (17.5%), startle epilepsy in 6 (13.5%), Lennox-Gastaut syndrome in 2 (5%), and continuous spikes and waves during slow sleep in 1 (2%). The surgical specimens revealed malformations of cortical development in 18 patients (40%), Rasmussen encephalitis in 13 (29%), porencephalic lesions in 10 (22%), gliosis in 2 (4.4%), tumor in 1 (2.2%), and Sturge-Weber syndrome in 1 (2.2%). CONCLUSION: The outcome of hemispherectomy in pediatric patients is good for those with refractory epilepsies, such as West syndrome, Lennox-Gastaut syndrome, epileptic encephalopathy with continuous spikes and waves during slow sleep, and startle epilepsy arising from a hemispheric lesion associated with hemiplegia.

Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome.

UNLABELLED: The aim of this study was to analyze the electroclinical features and evolution in patients with benign infantile seizures (BIS) associated with paroxysmal dyskinesia (PD). PATIENTS AND METHODS: Among 198 patients with BIS (78 of whom were familial cases), we evaluated 12 unrelated patients with BIS and PD seen at two pediatric neurology departments from January 1990 to February 2009. RESULTS: The patients were eight boys and four girls, one of whom was not a familial case. The time of follow-up was between 6 and 19 years. Median age at onset of epilepsy was 7 months (R: 5-18 m). Seizures were brief, focal, with or without secondary generalization, and occurred in clusters in 58% of the cases. Seven of 12 patients with BIS and 13 family members had PD. The age at onset of PD was between 5 and 18 years and it was characterized by choreoathetosis in 12 and dystonia in 8. PD was kinesigenic in all cases. As to family history, BIS was found in mothers in two patients, in fathers in five, in a grandfather in one, in grand-uncle in one, in uncles in four, in brothers in three, and in sisters in three other patients. PD was found in fathers in four patients, in the mother in one, in a brother in one, in a cousin in three, in an uncle in one, in an aunt in one, and in grandfathers in two. During follow-up, one patient and a relative with BIS from two different families presented Rolandic epilepsy. The father of the case with BIS and Rolandic epilepsy also had BIS and benign focal seizures of adolescence. CONCLUSIONS: BIS and PD syndrome is a well-defined familial syndrome. BIS had the similar features described in patients with familial and non-familial BIS. The patient with non-familial BIS who developed PD later, suggests that non-familial forms may have a genetic cause and may be caused by de novo mutations.

Long-term follow-up of the ketogenic diet for refractory epilepsy: multicenter Argentinean experience in 216 pediatric patients.

PURPOSE: In this Argentinean retrospective, collaborative, multicenter study, we examine the efficacy and tolerability of the ketogenic diet (KD) for different epilepsy syndromes. MATERIALS AND METHODS: we evaluated the clinical records of 216 patients started on the KD between March 1, 1990 and December 31, 2010. RESULTS: One hundred forty of the initial patients (65%) remained on the diet at the end of the study period. Twenty-nine patients (20.5%) became seizure free and 50 children (36%) had a 75-99% decrease in seizures. Thus, 56.5% of the patients had a seizure control of more than 75%. The best results were found in patients with epilepsy with myoclonic-astatic seizures, Lennox-Gastaut syndrome, and West syndrome. Good results were also found in patients with Dravet syndrome, in those with symptomatic focal epilepsy secondary to malformations of cortical development, and in patients with tuberous sclerosis. Seizures were significantly reduced in four patients with fever-induced refractory epileptic encephalopathy in school-age children and in two patients with epileptic encephalopathy with continuous spikes and waves during slow sleep. The median period of follow-up after discontinuation of the diet was 6 years. Twenty patients who had become seizure free discontinued the diet, but seizures recurred in five (25%). Of 40 patients with a seizure reduction of more than 50% who discontinued the diet, 10 presented with recurrent seizures. CONCLUSION: The ketogenic diet is a good option in the treatment of refractory epilepsy. After discontinuing the diet, seizures recurrence occurred in few patients.

Mesial temporal lobe epilepsy with hippocampal sclerosis: study of 42 children.

PURPOSE: We present the electroclinical features, treatment, and evolution of patients with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS). MATERIAL AND METHODS: We analyzed the charts of forty-two patients who met the diagnostic criteria of MTLE-HS. The mean follow-up after seizure onset was 10.5 years. RESULTS: According to age, we defined three groups. The first group included nine patients that started with seizures before 2 years of age. Motor seizures were the hallmark clinical manifestation. All patients of this group also presented with motor arrest and oro-alimentary automatisms. In three of them, the interictal EEG recordings showed bilateral paroxysms predominantly in anterior regions, in addition to focal abnormalities, and two had an apparently generalized ictal pattern. The second group included 17 patients that started with seizures between 2 and 10 years of age. In this group the automatisms were also oroalimentary, but more complex and the patients had less motor manifestations. The interictal EEG recordings showed temporal abnormalities. The ictal EEG recordings showed lateralized abnormalities with a maximum in the temporal electrodes. The third group included 16 patients that started with seizures between 10 and 16 years of age. The most common clinical manifestation was abdominal aura followed by oroalimentary, gestural, and verbal automatisms. The interictal and ictal EEG recordings showed well-localized abnormalities in temporal lobes. Thirty-eight patients underwent surgical treatment. Thirty-five patients are seizure free. CONCLUSION: MTLE-HS represents a well-defined and distinct symptomatic epileptic syndrome. Surgical treatment was successful in most patients.

Infantile spams without hypsarrhythmia: a study of 16 cases.

UNLABELLED: In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG. We also discuss how to nosologically define these cases. METHODS: Between February 1, 1990, and December, 2009, sixteen patients met the electroclinical diagnostic criteria of ES in clusters without hypsarrhythmia. RESULTS: ES were cryptogenic in thirteen patients and symptomatic in three. Age at onset of ES was between 4 months and 30 months, with a mean age of 9 months and a median age of 7 months. Seven patients had seizures before the onset of ES. Focal spikes were observed in seven patients, bilateral spikes and spikes and waves in five, multifocal spikes in two, and two patients had a normal EEG. The ictal EEG recording showed diffuse high-amplitude slow waves in ten patients, diffuse slow waves followed by voltage attenuation in four patients, and diffuse fast rhythms in two. ES were cured in five patients. Mean follow-up was 6 years. Neuropsychological development has been normal in the five latter patients. Eleven patients continue with seizures refractory to antiepileptic drugs after a mean follow-up of 10 years. Of these eleven patients, five have severe mental retardation, three have moderate mental retardation, and two have mild mental retardation. All of them show behavioral disturbances. CONCLUSION: The patients in this series may be considered to have a variant of West syndrome rather than an electroclinically distinct epileptic syndrome.

Vagus nerve stimulation: effectiveness and tolerability in patients with epileptic encephalopathies.

PURPOSE: We discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 26 patients with refractory epileptic encephalopathies (EEs). MATERIAL AND METHODS: Twenty-six patients (17 male and 9 female) with electroclinical features compatible with Lennox-Gastaut syndrome (LGS) in 20 patients, Dravet syndrome (DS) in 3 patients, and epilepsy with myoclonic-astatic seizures (EMAS) in 3 patients implanted with the NCP system were analyzed. RESULTS: In our series of patients with LGS, 17 cases showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. Seven of them previously had epileptic spasms. Three patients with EMAS and two patients with DS showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. A good clinical response was evident early and efficacy progressively improved with the duration of treatment up to 36 months. In patients who had a reduction in seizure frequency of at least 50%, quality of life (QOL) and neuropsychological performance improved. VNS was well-tolerated in all patients. CONCLUSION: VNS is an effective and well-tolerated treatment for patients with epileptic encephalopathies EEs, improving QOL and neuropsychological performance.

Vagus nerve stimulation: effectiveness and tolerability in 64 paediatric patients with refractory epilepsies.

AIM: We discuss the effectiveness, tolerability, and safety of vagus nerve stimulation (VNS) as adjunctive therapy in 64 paediatric patients with refractory epilepsies. MATERIALS AND METHODS: Sixty-four patients (34 male and 30 female) implanted with VNS for refractory epilepsy were analysed. Electroclinical features were compatible with Lennox-Gastaut syndrome in 46 patients, focal epilepsies in 10 patients, Dravet syndrome in three patients, epilepsy with myoclonic-astatic seizures in three patients, and West syndrome in two. The NeuroCybernetic Prosthesis (NCP) system (Cyberonics, Webster, TX, USA) was employed and the following stimulation parameters were used: output current of 1 to 2.5mA, signal frequency of 30Hz, signal pulse width of 500µs, and signal "on" and "off" times of 30  seconds and 5  minutes, respectively. RESULTS: Of 46 patients with LGS, 30 cases showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. Ten patients with focal epilepsy, three patients with myoclonic-astatic seizures, two patients with Dravet, and two patients with West showed a significant improvement in seizure control, with a reduction in seizure frequency of at least 50%. A good clinical response was evident early and efficacy progressively improved with the duration of treatment up to 36 months. In a significant number of patients, reduced seizure severity and shorter recovery time and hospital stay were also observed. VNS was well tolerated in all patients. CONCLUSION: VNS is an effective and well-tolerated treatment for paediatric patients with refractory epilepsies, improving quality of life and neuropsychological performance.