RESUMO
Introducción: La epilepsia del lóbulo temporal mesial se considera la más frecuente de las epilepsias focales, con signos y síntomas característicos que ayudan a definir su diagnóstico. Contenidos: Dentro de su historia natural, las crisis pueden iniciar en los primeros años de vida, usualmente como episodios febriles con un periodo de remisión, para reaparecer en la adolescencia o en el adulto joven. La presentación electroencefalográfica tiene un patrón característico, con aparición de puntas y ondas agudas interictales en la región temporal anterior, por lo general unilaterales, y con actividad ictal generalmente theta en la misma localización. La causa más frecuente es la esclerosis del hipocampo. El tratamiento con medicamentos anticrisis puede controlar la epilepsia, aunque algunos casos pueden evolucionar a la farmacorresistencia, en la cual la cirugía de epilepsia está indicada, y tiene buenos resultados. Conclusiones: Esta revisión se centra en la descripción de las características electroclínicas de la epilepsia temporal mesial, para hacer un diagnóstico temprano e iniciar un tratamiento adecuado, a efectos de lograr un mejor pronóstico y una mejor calidad de vida para los pacientes con epilepsia y sus familiares.
Introduction: Mesial temporal lobe epilepsy is considered the most common of the focal epilepsies, with characteristic signs and symptoms that help define its diagnosis. Contents: In the natural history of the disease, seizures can begin in the first years of life, usually as febrile seizures with a period of remission, to reappear in adolescence or in the young adult. The electroencephalographic presentation has a characteristic pattern with the appearance of interictal sharp waves and spikes in the anterior temporal region, usually unilateral, and with generally theta ictal activity in the same location. The most common cause is hippocampal sclerosis. Treatment with antiseizure medication can control epilepsy. However, in some cases evolution of drug resistance can occur, leading to epilepsy surgery as the most appropriate treatment, based on its good results. Conclusions: This review focuses on the description of the electroclinical characteristics of temporal mesial epilepsy, in order to make an early diagnosis and adequate treatment, thus providing a better prognosis and quality of life for patients with epilepsy and their families.
Assuntos
Qualidade de Vida , Convulsões Febris , Diagnóstico , Epilepsia do Lobo Temporal , Pacientes , Prognóstico , Esclerose , Revisão , História NaturalRESUMO
Abstract Background Although febrile seizure (FS) is generally considered benign and self-limiting, there are differences regarding the risk factors, the prognosis, and the development of epilepsy. Objective To examine the clinical and sociodemographic characteristics of patients diagnosed with FS, and to determine the risks of recurrence and the development of epilepsy. Methods Between 2015 and 2019, we performed a retrospective evaluation of 300 patients with FS followed for at least 24 months. Results The first episode of FS was simple in 72.7% of the patients and complex in 27.3%, and it recurred in 40%. Age under 12 months in the first FS, complex FS, and neurodevelopmental delay were found to statistically increase the risk of recurrence (p< 0.05). A total of 7% of the patients developed epilepsy, and this rate was found to be higher in patients with neurodevelopmental delay and long-term use of antiepileptic drugs (p< 0.001). The development of epilepsy was also observed in 77.8% of the patients with abnormal electroencephalogram (EEG). Epilepsy developed more frequently in those with abnormal EEG (p<0.001). Conclusions Neurodevelopmental delay was an important risk factor for FS recurrence and the development of epilepsy. Abnormality in the EEG is an important risk factor for the development of epilepsy. We found that the long-term prophylactic treatment did not cause decreases in the recurrence of FS nor in the development of epilepsy.
Resumo Antecedentes Embora a convulsão febril (CF) seja geralmente considerada benigna e autolimitada, existem diferenças nos fatores de risco, prognóstico e desenvolvimento de epilepsia. Objetivo O objetivo foi examinar as características clínicas e sociodemográficas de pacientes diagnosticados com CF e determinar os riscos de recorrência e desenvolvimento de epilepsia. Métodos Trezentos pacientes com CF, acompanhados por pelo menos 24 meses, foram avaliados retrospectivamente entre 2015 e 2020. Resultados A primeira CF foi simples em 72,7% dos pacientes e complexa em 27,3%. CS foi recorrente em 40% dos pacientes. Encontrou-se que a idade da primeira CF inferior a 12 meses, CF complexa e atraso no neurodesenvolvimento aumentaram estatisticamente o risco de recorrência (p< 0,05). Epilepsia se desenvolveu em 7% dos pacientes. A epilepsia foi maior em pacientes com atraso no desenvolvimento neurológico e uso prolongado de drogas antiepilépticas (p< 0,001). A epilepsia se desenvolveu em 77,8% dos pacientes com eletroencefalograma (EEG) anormal. Uma diferença estatisticamente significativa foi determinada em pacientes com EEG anormal em risco de epilepsia (p< 0,001). Conclusões O atraso no neurodesenvolvimento foi um importante fator de risco para recorrência de CF e epilepsia. A anormalidade do EEG é um importante fator de risco para o desenvolvimento de epilepsia. O tratamento de profilaxia a longo prazo não diminuiu a recorrência de CS e o desenvolvimento de epilepsia.
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RESUMEN Se presenta caso de una niña de 10 años con cuadro de epilepsia mioclónica juvenil severa en la infancia, que a los 6 meses de edad debutó con crisis tónico-clónicas generalizadas (TCG) luego de la administración de una dosis de vacuna DPT, con posteriores crisis TCG, mioclónicas y múltiples episodios de estado epiléptico refractarios a fármacos antiepilépticos (FAE) de primera y segunda línea durante los primeros 5 años. Las crisis se asociaron a retraso global en el desarrollo luego del primer episodio. Durante la evolución se realizaron estudios que incluyen resonancia magnética cerebral que fue normal y tomografía por emisión de positrones (PET-CT) que evidenció alteraciones en el metabolismo en región temporal izquierda, además de estudios para inmunodeficiencias y trombofilias sin alteraciones. Los electroencefalogramas iniciales fueron normales, pero video electroencefalograma de 12 horas mostró actividad irritativa en la región central con diseminación bilateral. Los estudios genéticos identificaron una mutación en el marco de lectura de tipo "frameshift" del gen SCN1A mediante secuenciación de la región codificante. Luego de los primeros años de vida, la paciente presenta, atípicamente, remisión progresiva de las crisis con posterior desmonte de FAE y mejoría del neuro-desarrollo en el proceso interdisciplinario de rehabilitación.
SUMMARY We report the case of a 10-year-old female with a history of severe myoclonic epilepsy of infancy who presents with generalized tonic-clonic (GTC) seizures at 6 months of age after administration of a DPT vaccine, who then begins to present frequent and severe GTC seizures, myoclonic seizures and multiple refractory status epilepticus poorly controlled with first and second line anti-epileptic drugs (AEDs). This was accompanied by development delay. Studies performed on the patient included brain MRI which was normal, immunodeficiency and trombophilic studies which were normal and electroencephalographs: studies (EEG) that were at first mostly normal. The most significant findings were seen during a 12-hour video-EEG which reported epileptogenic activity in central region with bilateral dissemination and a PET-CT that showed metabolism alterations in the left temporal region. Due to this presentation a channelopathy was suspected and a coding region sequentiation study was performed which identified a frameshift mutation of the SCN1A gene confirming the diagnosis. Atipically, after 5 years the patient begins to present a favorable evolution with significant seizure remission even allowing the progressive weaning of AEDs and a remarkable stalemate of developmental delay after interdisciplinary rehabilitation process was started.
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Mobilidade UrbanaRESUMO
La epilepsia con retardo mental ligado al cromosoma X por mutación del gen PCDH19, es una condición que solo se presenta en las mujeres. El cuadro clínico suele verse complicado con retardo global del desarrollo y epilepsia. En la edad adulta puede manifestarse con discapacidad intelectual y hasta 20 % de las mujeres afectadas no presentan convulsiones ni retardo intelectual. Se presenta el caso de una niña con epilepsia, retardo del desarrollo y conversión autista, asociados con leucoencefalopatía y tractopatía posterior reversible por mutación del PCDH19 (c.142G>T/ p.Glu48X).
Epilepsy and mental retardation produced by mutations in gene PCDH19 (protocadherin 19) is an X-linked syndrome restricted to females. It starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults. At least in 20% of cases, there are no seizures or intellectual retardation. We report the case of a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G>T/ p.Glu48X).
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Epilepsia , Encefalopatias , Convulsões Febris , Leucoencefalopatias , Deficiência IntelectualRESUMO
La hemorragia intraventricular es una grave enfermedad que suele presentarse en las primeras horas o días después del nacimiento pretérmino en niños con peso inferior a 1 500 g. Se presenta el caso de un recién nacido a término, con peso adecuado, masculino, producto de parto no institucional, que a los 17 días fue remitido al Hospital Paquito González Cueto, con fiebre y convulsiones. Ingresó en Unidad de Cuidados Intensivos Pediátricos. Se constató aumento del perímetro cefálico, fontanela anterior tensa e hipertonía global. La ecografía transfontanelar reveló hemorragia subependimaria/intraventricular. Se realizó tomografía computarizada y resonancia magnética para confirmar diagnóstico. La sintomatología y resultados ecoencefalográficos presentaron una evolución satisfactoria como ocurre en el 65 % de casos. Se decidió la presentación del caso por manifestarse la entidad en un recién nacido a término y con peso adecuado, lo que es poco usual y por darse la circunstancia de haber nacido fuera de una institución hospitalaria, por lo que, aunque no se pudo establecer la relación entre este hecho y la enfermedad, contribuye a que los médicos generalistas desarrollen la habilidad de sospechar diagnósticos de tal gravedad en casos que no necesariamente se ajusten a lo que está clásicamente descrito como más frecuente.
Intraventricular hemorrhage is a serious disease that usually occurs in the first hours or days of life, especially in premature infants weighing less than 1500 g. We present the case of full-term newborn with normal birth weight who was non-institutionally delivered. At 17 days old, he was referred to the Paquito González Cueto Hospital because of fever and seizures. Subsequently, he was admitted to the Pediatric Intensive Care Unit. Increased head circumference, tense anterior fontanelle and global hypertonia were found. A transfontanelle ultrasound revealed a subependymal/intraventricular hemorrhage. Computed tomography and magnetic resonance imaging were used to confirm the diagnosis. Symptoms and echoencephalographic results improved as occurs in 65% of cases. We decided to present this case since the condition developed in a full-term newborn with normal weight, which is unusual, and the fact that he was born outside a hospital. Although the relationship between this fact and the disease could not be established, it helps general practitioners to develop the ability to consider such serious diseases in cases that do not necessarily meet what is classically described.
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As crises epilépticas febris são uma entidade benigna da infância e a maioria das crianças que a apresenta terá apenas um episódio na vida. Apesar disso, as crises geram grande apreensão nos familiares e há grande discussão na literatura sobre quando estes pacientes devem ser tratados e qual a melhor opção terapêutica. Esta revisão traz uma síntese dos dados e recomendações atuais para diagnóstico e tratamento dos pacientes que apresentem crises febris.
Febrile seizures are a benign condition of childhood and most children will have only one episode in their lifetime. Nevertheless, a crisis generates major concern in the family and there is much discussion in literature about when to treat as well as which is the best therapeutic approach. This review summarizes data and current recommendations for diagnosis and treatment of patients with febrile seizures.