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Purpose The aim of this study was to evaluate efficacy and tolerability of sulthiame as an add-on treatment in 44 patients with Lennox-Gastaut syndrome (LGS) refractory to other antiepileptic drugs and/or non-pharmacological treatment. Methods Patients were selected according to the following criteria: (1) age 4 years or older, (2) a diagnosis of LGS refractory to at least four previous antiepileptic drugs, alone or in combination. Neurologic examinations, brain magnetic resonance imaging, and repeated prolonged electroencephalography (EEG) or video-EEG studies were performed in all cases. Data on school achievements and/or neuropsychological evaluations were obtained during the follow-up of 1–3 years. Sulthiame was added in doses ranging from 5 to 30 mg/kg/day. Results Twenty-seven of 44 patients (61%) who received sulthiame as add-on therapy had a greater than 50% seizure decrease after a mean follow-up period of 20 months. Complete seizure freedom was achieved in one patient (2%). Four patients (9%) had a 25–50% seizure decrease, while seizure frequency remained unchanged in 12 (25%), and was increased in one (2%). Hyperpnoea and dyspnoea were observed in four patients, and nausea, drowsiness, and headache were seen in one patient each; however, these manifestations were transient and discontinuation of sulthiame was not necessary. Two other patients had decreased appetite, skin rash, and irritability. The adverse effects were mild and transient in these nine cases. Conclusion Sulthiame as an adjunctive therapy achieved a more than 50% seizure reduction in 27 of 44 patients with LGS with only mild or moderate adverse effects.

Purpose To retrospectively analyze the electroclinical characteristics, etiology, treatment, and prognosis of patients with epileptic encephalopathy with status epilepticus during sleep (ESES) with unusual EEG features and to corroborate if this series of patients is part of the ESES syndrome. Method Charts of 17 patients with typical clinical manifestations of the ESES syndrome with focal ESES of non-REM sleep at onset and during the focal ESES phase, or bilateral synchronic and asynchronic ESES with a symmetric or asymmetric morphology, continuous or subcontinuous and sometimes multifocal paroxysms with or without slow-wave activity during slow sleep seen between 2000 and 2012 were analyzed. Results Mean patient follow-up from onset was 7.5 years. An idiopathic cause was found in seven patients, a structural cause in eight, and etiology was unknown in the remaining two. The median age at onset of the unusual ESES syndrome was 7 years. During the ESES phase, 15 children developed new seizure types, negative myoclonus was observed in seven patients, positive myoclonus in five, and absences in nine. Six patients had motor impairment, two had auditory verbal agnosia, and two had motor speech impairment. Attention deficit hyperactivity disorder was observed in four, aggressiveness in six, memory deficit in two, and impaired temporospatial orientation in four. The patients with focal ESES in the frontal region showed behavioral disturbances and/or motor deterioration, and in those with temporo-occipital involvement the dominant clinical manifestations were language and/or behavioral disturbances. Conclusion Our patients with typical clinical manifestations of ESES syndrome but with unusual EEG patterns may be variants of this syndrome.

Purpose We present six patients with epilepsy of infancy with migrating focal seizures (EIMFS) and provide a comprehensive evaluation of potassium bromide therapy. Method Between February 1, 2007 and July 31, 2012, six patients who met the diagnostic criteria of EIMFS were treated with potassium bromide. Potassium bromide was added to other antiepileptic drugs (AEDs) in doses ranging from 30 to 80mg/kg/day. Plasma bromide concentration was monitored. A therapeutic bromide concentration between 75 and 125mg/dL was considered to be ideal. Results Four of six children responded well to bromide. One of these patients became seizure free, but remained severely mentally impaired. Two boys, currently 4 and 6 years of age, respectively, have monthly seizures as well as axial hypotonia and severe language impairment. The fourth child responded well to bromide, having only weekly seizures and moderate psychomotor retardation. The patient who became seizure free improved visual contact and head control. In the other three patients with good control, the seizures became focal without secondary generalization and status epilepticus and hospital admission was not required. The remaining two patients did not respond well to bromide. Adverse effects were seen in three cases: vomiting in one, drowsiness in another, and acneiform eruption in the face in the remaining patient. Adverse effects resolved with dose reduction. Conclusion Early treatment with bromides should be considered in EIMFS to control the seizures and status epilepticus and to avoid progressive cognitive impairment. Potassium bromide is an old AED. Plasma concentration monitoring should be considered.

PurposeThe ketogenic diet (KD) has been used as an alternative to antiepileptic drugs (AEDs) for patients with refractory epilepsy. Lennox–Gastaut syndrome (LGS) belongs to the group of epileptic encephalopathies that often prove refractory to AED treatment.In this prospective study we assess the efficacy and tolerability of the KD in patients with LGS.MethodsBetween March 1, 1990 and April 1, 2013, 61 patients who met diagnostic criteria of LGS were seen at our department. Twenty of them were placed on the KD and followed for a minimum of 16 months.ResultsThe children had previously received a mean of 6.5 different AEDs and were on a mean of 2.5 AEDs when the diet was started. Eighteen months after initiating the diet, fifteen of the initial patients (75%) remained on the diet; three patients (15%) were seizure free, three (15%) had a 75–99% decrease in seizures, two (10%) had a 50–74% decrease in seizures, and the remaining seven children (35%) had a

Purpose The aim of the study was to retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 29 patients with Landau–Kleffner syndrome (LKS) with a long-term follow-up. Methods Inclusion criteria were a diagnosis of LKS with: (1) acquired aphasia or verbal auditory aphasia; (2) with or without focal seizures, secondarily generalized tonic-clonic seizures, absences, or atonic seizures. Results Mean follow-up was 12 years. All cases except six had seizures. Before the onset of aphasia, developmental language and behavioral disturbances were present in 19 and 14 patients, respectively. All patients had verbal auditory agnosia. Aphasia was severe in 24 patients and moderate in five. Nonlinguistic cognitive dysfunctions were moderate in 14 patients. Behavioral disturbances were found in 16 patients. During the continuous spike-and-wave discharges during slow sleep phase, the spike-wave index was >85% in 15, 50–85% in eight, and 30–50% in four. In two patients, the EEG recording showed occasional bilateral spikes, without continuous spike-and-wave discharges during slow sleep. In this phase, the awake EEG recording showed more frequent interictal abnormalities, predominantly in the temporal regions. Eight patients recovered language completely, but the remaining patients continue to have language deficits of different degrees. Conclusion Landau–Kleffner syndrome is an epileptic encephalopathy characterized by acquired verbal auditory aphasia and seizures in most of the patients associated with continuous or almost continuous spike-and-wave discharges during slow wave sleep. The most commonly used treatments were clobazam, ethosuximide, sulthiame. High-dose steroids were also administered. Adequate and early management may avoid language and cognitive deterioration.

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.

Purpose To retrospectively analyze the electroclinical features, etiology, treatment, and prognosis of 21 patients with encephalopathy with hemi-status epilepticus during sleep (ESES) or hemi-continuous spikes and waves during slow sleep (CSWSS) syndrome. Methods Charts of 21 patients with hemi-ESES/CSWSS syndrome followed between 1997 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 behavioral disturbances; (4) Hemi-continuous spike-and-wave discharges during slow sleep in more than 85% of non-REM sleep at onset and throughout the ESES/CSWSS period. Results Mean follow-up from onset of hemi-ESES/CSWSS was 8 years (range, 2–15 years). Idiopathic cases were not identified. Unilateral polymicrogyria was found in 11, shunted hydrocephalus in four, a porencephalic cyst associated with polymicrogyria in three, and a thalamic lesion in three children. All started with focal seizures with or without secondary generalization. During the hemi-ESES/CSWSS period, all children developed new types of seizure, such as negative and positive myoclonus, absences, motor deterioration, cognitive impairment, and behavioral disturbances. All AED responders returned to baseline cognitive development. Seven patients were refractory to AEDs. Conclusion Our study suggests that the hemi-ESES/CSWSS syndrome has electroclinical features compatible with an epileptic encephalopathy. The most commonly used treatments were clobazam, ethosuximide, and sulthiame, alone or in combination. In refractory cases, high-dose corticosteroids were administered. Although the number of patients in this study is too low to draw definite conclusions, we consider that in children with hemi-ESES/CSWSS secondary to a unilateral lesion, surgery should be considered.

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.