RESUMO
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.
Assuntos
Eletroencefalografia , Epilepsias Parciais , Criança , Epilepsias Parciais/complicações , Epilepsias Parciais/diagnóstico , Humanos , Masculino , Estudos Retrospectivos , Convulsões/complicações , Convulsões/diagnóstico , SíndromeRESUMO
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.
Assuntos
Epilepsias Parciais , Epilepsia Tipo Ausência , Estado Epiléptico , Adolescente , Criança , Pré-Escolar , Eletroencefalografia , Epilepsias Parciais/complicações , Feminino , Humanos , Masculino , Estudos RetrospectivosRESUMO
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.
Assuntos
Epilepsia , Síndromes Epilépticas , Criança , Eletroencefalografia , Humanos , Estudos Retrospectivos , Convulsões/complicaçõesRESUMO
OBJECTIVE: We describe the electroclinical characteristics of a series of 26 patients with idiopathic West syndrome (WS), who had an excellent response to treatment with vigabatrin (VGB) and corticosteroids alone or in combination. METHODS: Evaluating the records of 178 patients with WS studied at Garrahan Hospital, Niño Jesús Hospital, and Clínica San Lucas between January 2005 and June 2017, we selected 26 patients that met the inclusion criteria of idiopathic WS. The inclusion criteria for idiopathic WS were (1) no personal history of disease, (2) normal neurological examination and neurodevelopment, (3) symmetric spasms in clusters not preceded by any other type of seizure, (d) symmetric hypsarrhythmia, (e) normal electroencephalogram (EEG) background, e.g., normal sleep EEG pattern, (f) normal magnetic resonance imaging (MRI) recording, (g) normal neurometabolic and genetic studies, and (h) at least 2â¯years of follow-up. RESULTS: Fifteen boys and 11 girls met the inclusion criteria of idiopathic WS. The current age of the children ranges between 2â¯years 10â¯months and 12â¯years 10â¯months. Age at first epileptic spasms (ES) ranged from 4 to 11â¯months, with a mean age of 7 and a median of 7.5â¯months, respectively; ES were in clusters, bilateral and symmetrical in all cases. Spasms were flexor in nine (34.7%), mixed flexor-extensor in 15 (57.7%), and extensor in three (7.6%). In all patients the EEG showed typical pattern of hypsarrhythmia. CONCLUSION: These patients with idiopathic WS who have an excellent response to initial treatment should be treated for a short period of time with adrenocorticotropic hormone (ACTH) and VGB alone or in combination.
Assuntos
Espasmos Infantis , Hormônio Adrenocorticotrópico , Criança , Eletroencefalografia , Feminino , Humanos , Lactente , Masculino , Convulsões , Espasmos Infantis/tratamento farmacológico , Resultado do Tratamento , VigabatrinaRESUMO
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.
Assuntos
Epilepsia , Eletroencefalografia , Humanos , Paralisia , Estudos Retrospectivos , Convulsões/complicações , SialorreiaRESUMO
OBJECTIVE: The purpose of this study was to assess parent satisfaction with the management of ketogenic diet therapies (KDTs) through telemedicine using WhatsApp as the main tool. METHODS: Parent satisfaction was longitudinally evaluated through questionnaires. The survey was developed with Google Questionnaire forms and sent via WhatsApp. The questionnaire consisted of 13 items concerning the management of KDTs using telemedicine in the context of the coronavirus disease 2019 (COVID-19) pandemic. Our population of patients has limited financial resources and low levels of education. Given that many families did not have either computers or WIFI, or any other access to information or communication technology, WhatsApp was chosen as a tool as it was available on the cell phones of all families and the professionals. RESULTS: Our survey showed that 96.3% of the parents were satisfied with the management of KDTs through telemedicine. The main benefits observed were the possibility of continuing treatment during the COVID-19 pandemic and the ease of accessing the professional team from the comfort of their home. Overall, 72.2% of the families would recommend using telemedicine for KDTs in any situation regardless of the pandemic. None of the families reported that they would recommend against treatment by telemedicine. The availability of a social support network (parents WhatsApp group) coordinated by professionals from the KDT team was considered to be useful by most respondents (90%). CONCLUSIONS: Our study suggests that management of children with DRE on KDTs through telemedicine is feasible, well accepted by the families, and probably as safe as conventional medicine. WhatsApp may be an interesting telemedicine tool to start and maintain KDTs.
Assuntos
Dieta Cetogênica/métodos , Epilepsia Resistente a Medicamentos/dietoterapia , Pais/psicologia , Telemedicina , Adolescente , Adulto , Argentina , Betacoronavirus , COVID-19 , Criança , Pré-Escolar , Coronavirus , Infecções por Coronavirus/epidemiologia , Infecções por Coronavirus/prevenção & controle , Atenção à Saúde , Epilepsia Resistente a Medicamentos/epidemiologia , Feminino , Humanos , Lactente , Masculino , Pandemias , Satisfação Pessoal , Pneumonia Viral/epidemiologia , Pneumonia Viral/prevenção & controle , Avaliação de Programas e Projetos de Saúde , SARS-CoV-2 , Mídias Sociais , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: Here, we present a multicenter series of patients with developmental and epileptic encephalopathies (DEE) and related electroclinical patterns (REP) other than Lennox-Gastaut syndrome (LGS) who were treated with rufinamide as add-on therapy. METHODS: Medical records of 34 patients with DEE and REP other than LGS treated with add-on rufinamide seen at four pediatric neurology centers in Argentina between May 2014 and March 2019 were retrospectively analyzed. RESULTS: We evaluated 34 patients (18 males, 16 females), aged between 2 and 15â¯years with a mean and median age of 6 and 8â¯years, respectively. The children had different types of childhood-onset refractory DEE and REP other than LGS and were treated with rufinamide for a mean period of 20â¯months (range, 12-60â¯months). Twenty-two of 34 patients (64.5%) who received rufinamide as add-on therapy had a greater than 50% decrease in seizures, and two patients (5.8%) became seizure-free. Four patients (11.7%) had a 25-50% seizure reduction, while seizure frequency remained unchanged in four others (11.7%) and increased in two patients (5.8%). The final mean dosage of rufinamide was 31.5⯱â¯15.5â¯mg/kg per day (range, 19-75.4â¯mg/kg) if combined with valproic acid and of 35.4⯱â¯11.5â¯mg/kg per day (range, 8-60.5â¯mg/kg) without valproic acid. Adverse effects were recorded in nine patients (26.4%). A seizure increase was reported in two of 24 patients (7.3%). CONCLUSION: Rufinamide may be used as a treatment option in DEE and REP other than LGS.
Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Síndrome de Lennox-Gastaut , Convulsões/tratamento farmacológico , Triazóis/administração & dosagem , Adolescente , Argentina/epidemiologia , Criança , Pré-Escolar , Quimioterapia Combinada , Epilepsia/diagnóstico , Epilepsia/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Estudos Retrospectivos , Convulsões/diagnóstico , Convulsões/epidemiologia , Ácido Valproico/administração & dosagemRESUMO
The ketogenic diet is an established, effective and well-tolerated treatment in refractory epilepsy. This paper provides practical information on the administration of ketogenic diet. It goes over the standardized protocols and the new ones that allow to broaden the scope regarding the clinical management of the ketogenic diet. It addresses issues such as the implementation, counseling and follow-up as well as the application and how to proceed in special situations such as anesthesia or acute illness. Finally, the aim of this paper is to highlight the relevance of the multidisciplinary teamwork and the family support throughout this laborious but interesting treatment.
La dieta cetogénica se considera un tratamiento eficaz y bien tolerado para la epilepsia refractaria. Nuestro trabajo suministra información práctica sobre el uso de la dieta cetogénica, realizando una revisión acerca de las indicaciones clásicas y las nuevas que permiten ampliar el uso de la misma. Detallamos cómo implementar la dieta, los controles médicos en el seguimiento y la forma de actuar en situaciones especiales, tales como la anestesia o la enfermedad aguda. Se enfatiza la i mportancia del trabajo de los profesionales de las distintas especialidades y la familia como equipo, detallando los roles que ocupa cada uno en este interesante pero laborioso tratamiento.
Assuntos
Dieta Cetogênica , Epilepsia Resistente a Medicamentos/dietoterapia , Epilepsia Resistente a Medicamentos/terapia , Dieta Rica em Proteínas e Pobre em Carboidratos , Dieta Cetogênica/efeitos adversos , Dieta Cetogênica/classificação , Humanos , Estudos InterdisciplinaresRESUMO
La dieta cetogénica se considera un tratamiento eficaz y bien tolerado para la epilepsia refractaria. Nuestro trabajo suministra información práctica sobre el uso de la dieta cetogénica, realizando una revisión acerca de las indicaciones clásicas y las nuevas que permiten ampliar el uso de la misma. Detallamos cómo implementar la dieta, los controles médicos en el seguimiento y la forma de actuar en situaciones especiales, tales como la anestesia o la enfermedad aguda. Se enfatiza la i mportancia del trabajo de los profesionales de las distintas especialidades y la familia como equipo, detallando los roles que ocupa cada uno en este interesante pero laborioso tratamiento.
The ketogenic diet is an established, effective and well-tolerated treatment in refractory epilepsy. This paper provides practical information on the administration of ketogenic diet. It goes over the standardized protocols and the new ones that allow to broaden the scope regarding the clinical management of the ketogenic diet. It addresses issues such as the implementation, counseling and follow-up as well as the application and how to proceed in special situations such as anesthesia or acute illness. Finally, the aim of this paper is to highlight the relevance of the multidisciplinary teamwork and the family support throughout this laborious but interesting treatment.
Assuntos
Humanos , Dieta Cetogênica/classificação , Dieta Cetogênica/efeitos adversos , Epilepsia Resistente a Medicamentos/dietoterapia , Epilepsia Resistente a Medicamentos/terapia , Estudos Interdisciplinares , Dieta Rica em Proteínas e Pobre em CarboidratosRESUMO
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.
Assuntos
Encefalopatias/etiologia , Eletroencefalografia , Transtornos do Sono-Vigília/etiologia , Sono/fisiologia , Estado Epiléptico/complicações , Anticonvulsivantes/uso terapêutico , Atrofia , Encefalopatias/fisiopatologia , Criança , Pré-Escolar , Feminino , Lateralidade Funcional/fisiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Prognóstico , Transtornos do Sono-Vigília/fisiopatologia , Estado Epiléptico/fisiopatologia , Síndrome , Resultado do TratamentoRESUMO
Migrating focal seizures in infancy are an unusual and often overlooked epilepsy syndrome, with onset before age 6 months, in which nearly continuous seizures involve multiple, independent areas of both hemispheres with an arrest of psychomotor development. We describe a patient with migrating focal seizures in infancy whose seizures began at age 45 days. The seizures were refractory to common antiepileptic drugs. At age 6 months, the infant received potassium bromide and became almost seizure-free. The infant developed severe neurologic impairment, with marked axial hypotonia and an absence of visual contact and head control. At age 8 months, the child suddenly died. Pathologic findings included multiple malformations of cortical development, polymicrogyria, and focal cortical dysplasia associated with hippocampal sclerosis.