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1.
Rev. bras. neurol ; 57(4): 23-30, out.-dez. 2021. ilus
Article in English | LILACS | ID: biblio-1359223

ABSTRACT

There is a close association between sleep and epilepsy, and this literature review aims to raise issues regarding sleep time control, circadian and ultradian rhythms, epilepsy and its interaction with sleep and circadian rhythm, epilepsy and sleep disorders, and finally epilepsy management and medications. It is mentioned that sleep may provide a hypersynchronous state, as occurs in non-rapid eye movement sleep (NREM), and hyperexcitability, in cyclic alternating pattern (CAP), allowing more frequent interictal epileptiform abnormalities and seizures. In some epilepsy syndromes, seizures occur broadly / or entirely during sleep or on awakening, mainly in childhood, and maybe exacerbated in adults during the sleep or sleep-deprived, and there are the so-called Sleep-related epilepsies that are divided as sleep-associated, sleep-accentuated and arousal/awakening related. Sleep quality may be reduced in patients with epilepsy also due to nocturnal seizures or concomitant sleep disorders. Sleep disorders are common in patients with epilepsy and treatment of them mainly sleep-disordered breathing may improve seizure control. Besides, some parasomnias may mimic seizures, and also they can adversely affect the quality and quantity of sleep whereas antiepileptic therapy can have a negative or positive effect on sleep. Nocturnal epileptic seizures may be challenging to discern from parasomnias, in particular NREM parasomnias such as night terrors, sleepwalking and confusional arousals.


Há uma estreita associação entre sono e epilepsia, e esta revisão de literatura tem como objetivo levantar questões relacionadas ao controle do tempo do sono, ritmos circadianos e ultradianos, epilepsia e sua interação com sono e ritmo circadiano, epilepsia e transtornos do sono e, finalmente, o tratamento e medicamentos para epilepsia. Menciona-se que o sono pode proporcionar um estado hipersincrônico, como ocorre no sono "non-rapid eye movement" (NREM), e hiperexcitabilidade, no "cyclic alternating pattern" (CAP), permitindo anormalidades epileptiformes interictais e crises epilépticas mais frequentes. Em algumas síndromes epilépticas, as crises ocorrem ampla / ou inteiramente durante o sono ou despertar, principalmente na infância, e podem ser exacerbadas em adultos durante o sono ou privação de sono, e as chamadas epilepsias relacionadas ao sono se dividem em sono associadas, sono acentuadas e relacionadas com o despertar. A qualidade do sono pode ser reduzida em pacientes com epilepsia também devido a crises epilépticas noturnas ou transtornos do sono concomitantes. Esses são comuns em pacientes com epilepsia e o seu tratamento, principalmente dos transtornos respiratórios do sono, pode melhorar o controle das crises epilépticas. Além disso, algumas parassonias podem mimetizar crises epilépticas, e também elas podem afetar adversamente a qualidade e a quantidade do sono, enquanto a terapia antiepiléptica pode ter um efeito negativo ou positivo sobre o sono. Pode ser difícil discernir as crises epilépticas noturnas das parassonias, em particular das parassonias NREM, como terrores noturnos, crises de sonambulismo e despertares confusionais.


Subject(s)
Humans , Child , Adult , Sleep Deprivation , Sleep Wake Disorders/etiology , Epilepsy/complications , Epilepsy/diagnosis , Seizures/etiology , Sleep Wake Disorders/complications , Circadian Rhythm , Epilepsy/drug therapy
2.
Rev. bras. neurol ; 57(4): 31-39, out.-dez. 2021. tab, ilus
Article in English | LILACS | ID: biblio-1359225

ABSTRACT

There is a known relationship between seizures and sleep deprivation that increases epileptiform abnormalities and slow waves expressed in the EEG, but chronic insomnia, greater in patients with epilepsy (PWEs) than in healthy control, supposedly has a different mechanism linked to a hyperarousability state with increased rapid EEG activity and associated "restless REM". Therefore, there is a complex interaction at various levels between insomnia and epilepsy that may play a role in seizure presentation. The recognized interconnection between mood and anxiety disorders and insomnia should also advise special care in the management of psychiatric comorbidities in PWEs. This article raises questions related to the interaction between the brain basis of insomnia and epilepsy and the triggers of seizures, particularly sleep deprivation.


Há uma relação conhecida entre crises epilépticas e privação de sono que aumenta as anormalidades epileptiformes e as ondas lentas expressas no EEG, mas a insônia crônica, maior em pacientes com epilepsia (PCE) do que no controle saudável, supostamente tem um mecanismo diferente ligado a um estado de hiperexcitabilidade com aumento da atividade rápida do EEG e associado "REM inquieto". Consequentemente, existe uma complexa interação em vários níveis entre a insônia e a epilepsia que pode desempenhar um papel na apresentação das crises. A reconhecida interligação entre transtornos de humor e ansiedade com a insônia também deve aconselhar um cuidado especial no manejo das comorbidades psiquiátricas do PCE. Este artigo levanta questões relacionadas à interação entre a base cerebral da insônia e da epilepsia e os desencadeadores de crises epilépticas, principalmente a privação do sono.


Subject(s)
Humans , Adult , Sleep Deprivation , Epilepsy/complications , Epilepsy/diagnosis , Sleep Initiation and Maintenance Disorders/physiopathology , Sleep Initiation and Maintenance Disorders/epidemiology , Seizures/etiology , Sleep Wake Disorders , Prevalence , Risk Factors , Sleep Initiation and Maintenance Disorders/etiology , Mental Disorders
3.
Arq. neuropsiquiatr ; 79(11): 957-962, Nov. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350141

ABSTRACT

ABSTRACT Background: It has been reported that 10 to 30% of patients sent to epilepsy centers with a diagnosis of refractory epilepsy are diagnosed with psychogenic non-epileptic seizure (PNES). A wide variety of provocative methods are used to assist PNES diagnosis. Objective: To investigate the effect of seizure induction on the diagnosis and prognosis of PNES. Methods: We retrospectively examined 91 patients with PNES complaints in our video-EEG laboratory. Intravenous saline was administered to all patients for induction of seizures. Results: Saline injection was performed in 91 patients referred to our EEG lab with PNES initial diagnosis, 57 of whom were female and 34 male. Saline injection triggered an attack in 82 patients (90%). Conclusions: In this study we have concluded that provocative methods are practical, cheap and, most of all, effective for patient diagnosis. In clinical practice, explaining the diagnosis is the first and most important step of the treatment, and careful patient-doctor communication has a positive impact on patient prognosis.


RESUMO Antecedentes: Há relatos de que 10 a 30% dos pacientes com epilepsia refratária enviados a centros de epilepsia são diagnosticados com crise não epiléptica psicogênica (CNEP). Uma ampla variedade de métodos provocativos é usada para auxiliar no diagnóstico de CNEP. Objetivo: Investigar o efeito da indução de convulsões no diagnóstico e no prognóstico de CNEP. Métodos: Examinamos 91 pacientes com queixas de CNEP em nosso laboratório de vídeo-EEG. Foi administrada solução salina intravenosa a todos os pacientes para indução de convulsões. Resultados: A injeção de solução salina foi realizada em 91 pacientes com diagnóstico inicial de CNEP encaminhados ao nosso laboratório de EEG, 57 dos quais eram mulheres e 34 homens. A injeção de solução salina desencadeou um ataque em 82 pacientes (90%). Conclusões: Neste estudo, concluímos que os métodos provocativos são práticos, baratos e, acima de tudo, eficazes para o diagnóstico de pacientes. Na prática clínica, a explicação do diagnóstico é a primeira e mais importante etapa do tratamento, e a comunicação cuidadosa entre médicos e pacientes tem um impacto positivo em seu prognóstico.


Subject(s)
Humans , Male , Female , Seizures/diagnosis , Epilepsy/diagnosis , Retrospective Studies , Diagnosis, Differential , Electroencephalography
4.
Rev. chil. endocrinol. diabetes ; 14(1): 17-20, 2021. tab, ilus
Article in Spanish | LILACS | ID: biblio-1146467

ABSTRACT

Insulinoma es un tumor neuroendocrino que surge de las células ß del páncreas y produce hiperinsulinemia endógena. Son neoplasias raras con una incidencia reportada de 4 casos por millón de habitantes por año. La presentación clínica típicamente cursa con síntomas adrenérgicos y neuroglucopénicos secundarios a hipoglicemia. Requiere estudios de niveles séricos de insulina, pro-insulina y péptido C, además de imágenes diagnosticas que confirmen los hallazgos. La mayoría de los insulinomas son benignos, su sitio primario más común es el páncreas y pueden extirparse quirúrgicamente. Se presenta el caso de un hombre de 36 años con déficit cognitivo leve y episodios de diaforesis con deterioro neurológico hasta convulsiones tónico clónicas generalizadas que curiosamente resolvían con uso doméstico de "panela molida". Se ingresó a urgencias por ataques recurrentes de hipoglicemia severa con requerimiento de altas dosis de dextrosa al 50% por acceso central, hasta confirmación diagnóstica, intervención y resección de tumor neuroendocrino pancreático bien diferenciado (G1 según clasificación OMS) tipo insulinoma en la cola del páncreas.


Insulinoma is a neuroendocrine tumor that arises from the ß cells of the pancreas and produces endogenous hyperinsulinemia. They are rare neoplasms with a reported incidence to 4 cases per million inhabitants per year. The clinical presentation typically presents with adrenergic and neuroglycopenic symptoms secondary to hypoglycemia. It requires studies of serum levels of insulin, pro-insulin and C-peptide, in addition to diagnostic images that confirm the findings. Most insulinomas are benign, their most common primary site is the pancreas, and they can be removed surgically. We present the case of a 36-year-old man with mild cognitive deficits and episodes of diaphoresis with neurological deterioration to generalized clonic tonic seizures that curiously resolved with domestic use of "ground brown sugar". He was admitted to the emergency department due to recurrent attacks of severe hypoglycemia with a high-dose requirement for 50% dextrose through central access, until diagnostic confirmation, intervention, and resection of a welldifferentiated pancreatic neuroendocrine tumor (G1 according to WHO classification) insulinoma in the tail of pancreas.


Subject(s)
Humans , Male , Adult , Pancreatic Neoplasms/diagnosis , Insulinoma/diagnosis , Pancreatic Neoplasms/surgery , Pancreatic Neoplasms/complications , Magnetic Resonance Imaging , Neuroendocrine Tumors , Diagnosis, Differential , Epilepsy/diagnosis , Glucose/therapeutic use , Hyperinsulinism/etiology , Hypoglycemia/etiology , Hypoglycemia/drug therapy , Insulinoma/surgery , Insulinoma/complications
5.
Article in Chinese | WPRIM | ID: wpr-879247

ABSTRACT

At present the prediction method of epilepsy patients is very time-consuming and vulnerable to subjective factors, so this paper presented an automatic recognition method of epilepsy electroencephalogram (EEG) based on common spatial model (CSP) and support vector machine (SVM). In this method, the CSP algorithm for extracting spatial characteristics was applied to the detection of epileptic EEG signals. However, the algorithm did not consider the nonlinear dynamic characteristics of the signals and ignored the time-frequency information, so the complementary characteristics of standard deviation, entropy and wavelet packet energy were selected for the combination in the feature extraction stage. The classification process adopted a new double classification model based on SVM. First, the normal, interictal and ictal periods were divided into normal and paroxysmal periods (including interictal and ictal periods), and then the samples belonging to the paroxysmal periods were classified into interictal and ictal periods. Finally, three categories of recognition were realized. The experimental data came from the epilepsy study at the University of Bonn in Germany. The average recognition rate was 98.73% in the first category and 99.90% in the second category. The experimental results show that the introduction of spatial characteristics and double classification model can effectively solve the problem of low recognition rate between interictal and ictal periods in many literatures, and improve the identification efficiency of each period, so it provides an effective detecting means for the prediction of epilepsy.


Subject(s)
Algorithms , Electroencephalography , Epilepsy/diagnosis , Humans , Signal Processing, Computer-Assisted , Support Vector Machine
6.
Journal of Biomedical Engineering ; (6): 1193-1202, 2021.
Article in Chinese | WPRIM | ID: wpr-921861

ABSTRACT

As a common disease in nervous system, epilepsy is possessed of characteristics of high incidence, suddenness and recurrent seizures. Timely prediction with corresponding rescues and treatments can be regarded as effective countermeasure to epilepsy emergencies, while most accidental injuries can thus be avoided. Currently, how to use electroencephalogram (EEG) signals to predict seizure is becoming a highlight topic in epilepsy researches. In spite of significant progress that made, more efforts are still to be made before clinical applications. This paper reviews past epilepsy studies, including research records and critical technologies. Contributions of machine learning (ML) and deep learning (DL) on seizure predictions have been emphasized. Since feature selection and model generalization limit prediction ratings of conventional ML measures, DL based seizure predictions predominate future epilepsy studies. Consequently, more exploration may be vitally important for promoting clinical applications of epileptic seizure prediction.


Subject(s)
Electroencephalography , Epilepsy/diagnosis , Humans , Machine Learning , Seizures/diagnosis , Signal Processing, Computer-Assisted
7.
Journal of Biomedical Engineering ; (6): 1035-1042, 2021.
Article in Chinese | WPRIM | ID: wpr-921843

ABSTRACT

It is very important for epilepsy treatment to distinguish epileptic seizure and non-seizure. In this study, an automatic seizure detection algorithm based on dual density dual tree complex wavelet transform (DD-DT CWT) for intracranial electroencephalogram (iEEG) was proposed. The experimental data were collected from 15 719 competition data set up by the National Institutes of Health (NINDS) in Kaggle. The processed database consisted of 55 023 seizure epochs and 501 990 non-seizure epochs. Each epoch was 1 second long and contained 174 sampling points. Firstly, the signal was resampled. Then, DD-DT CWT was used for EEG signal processing. Four kinds of features include wavelet entropy, variance, energy and mean value were extracted from the signal. Finally, these features were sent to least squares-support vector machine (LS-SVM) for learning and classification. The appropriate decomposition level was selected by comparing the experimental results under different wavelet decomposition levels. The experimental results showed that the features selected in this paper were different between seizure and non-seizure. Among the eight patients, the average accuracy of three-level decomposition classification was 91.98%, the sensitivity was 90.15%, and the specificity was 93.81%. The work of this paper shows that our algorithm has excellent performance in the two classification of EEG signals of epileptic patients, and can detect the seizure period automatically and efficiently.


Subject(s)
Algorithms , Electroencephalography , Epilepsy/diagnosis , Humans , Seizures/diagnosis , Signal Processing, Computer-Assisted , Support Vector Machine , Wavelet Analysis
8.
Rev. Hosp. Ital. B. Aires (2004) ; 40(4): 199-207, dic. 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1145501

ABSTRACT

La encefalitis límbica es una enfermedad infrecuente y potencialmente grave, que puede o no ser paraneoplásica y se caracteriza por déficit de la memoria reciente, alteraciones psiquiátricas y convulsiones. De origen autoinmunitario, está asociada a anticuerpos séricos e intratecales contra antígenos neuronales intracelulares y de superficie, con especial afectación de zonas límbicas. En este artículo se revisan aspectos históricos y epidemiológicos, patogenia, síndromes más frecuentes y mejor delimitados, histopatología y estudios complementarios. Se repasan también las dificultades del diagnóstico diferencial y la necesidad de descartar siempre un tumor subyacente. La detección de autoanticuerpos neuronales es importante para el diagnóstico, la planificación terapéutica y el pronóstico. La inmunoterapia y, si corresponde, el tratamiento de la neoplasia son cruciales para lograr una recuperación neurológica sustancial. La encefalitis límbica es una entidad probablemente subdiagnosticada, con un pronóstico más favorable si se trata de forma temprana. El actual conocimiento de su patogenia puede además aportar claridad para la mejor comprensión de otros síndromes neurológicos y psiquiátricos que puedan compartir mecanismos autoinmunitarios, como algunos trastornos psicóticos y epilepsias farmacorresistentes. (AU)


Limbic encephalitis is a rare and potentially serious disease, which may or may not be paraneoplastic and is characterized by recent memory deficits, psychiatric disturbances and seizures. Of autoimmune origin, it is associated with serum and intrathecal antibodies against intracellular and surface neuronal antigens, with special involvement of limbic areas. This article reviews historical and epidemiological aspects, pathogenesis, more frequent and better defined syndromes, histopathology and complementary studies. The difficulties of differential diagnosis and the need to always rule out an underlying tumor are also reviewed. Detection of neuronal autoantibodies is important for diagnosis, therapeutic planning and prognosis. Immunotherapy and, if appropriate, neoplasm treatment, are crucial to achieve substantial neurological recovery. Limbic encephalitis is probably an underdiagnosed entity, with a more favorable prognosis if treated early. The current knowledge of its pathogenesis may also provide clarity for a better understanding of other neurological and psychiatric syndromes that may share autoimmune mechanisms, such as some psychotic disorders and drug-resistant epilepsies. (AU)


Subject(s)
Humans , Autoantibodies/metabolism , Autoimmune Diseases/pathology , Paraneoplastic Syndromes, Nervous System/pathology , Limbic Encephalitis/pathology , Psychotic Disorders/diagnosis , Psychotic Disorders/etiology , Autoimmune Diseases/diagnosis , Autoimmune Diseases/etiology , Autoimmune Diseases/therapy , Review Literature as Topic , Paraneoplastic Syndromes, Nervous System/diagnosis , Paraneoplastic Syndromes, Nervous System/etiology , Paraneoplastic Syndromes, Nervous System/therapy , Limbic Encephalitis/diagnosis , Limbic Encephalitis/etiology , Limbic Encephalitis/history , Limbic Encephalitis/therapy , Epilepsy/diagnosis , Epilepsy/etiology
9.
Rev. chil. pediatr ; 91(5): 761-766, oct. 2020. tab
Article in Spanish | LILACS | ID: biblio-1144276

ABSTRACT

INTRODUCCIÓN: La asociación de casos familiares de epilepsia y discapacidad intelectual (DI) en mujeres fue reportada en 1971. El año 2008, se identificó el rol de variantes patogénicas del gen PCDH19 en algunas familias. La enfermedad se presenta con crisis febriles en cluster, DI y rasgos autistas. La mayoría se debe a variantes de novo, pero hay algunos casos heredados por un modo peculiar de transmisión ligada X. OBJETIVO: Comunicar el caso de una paciente con epilepsia portadora de una variante patogénica en el gen PCDH1 9, revisando la historia natural de la enfermedad y la evidencia disponible para su manejo. CASO CLÍNICO: Paciente femenina, con antecedentes de embarazo y período perinatal normal. A los 6 meses, estando febril, presentó crisis focales motoras en cluster que repitieron a los 14, 18, 21 meses y 3 años siempre asociadas a fiebre, presentando incluso estatus epiléptico. Mantiene biterapia con topiramato y ácido valproico, completando 13 años sin crisis. El estudio del gen SCN1A no mostró anomalías y el estudio del gen PCDH19 reveló una variante patogénica en heterocigosis, "de novo". La paciente ha evolucionado con DI y alteraciones conductuales severas que requieren aten ción de salud mental. CONCLUSIONES: Las variantes patogénicas PCDH19 tienen expresión fenotípica variada. El diagnóstico genético debe sospecharse con la clínica. La morbilidad psiquiátrica a largo plazo puede ser incapacitante.


INTRODUCTION: The association of family cases of epilepsy and intellectual disability in women was reported in 1971. In 2008, the role of pathogenic variants of the PCDH19 gene in some families were identified. The disease presents with febrile seizure clusters, intellectual disability, and autistic features. Most cases are due to de novo variants, however, there are some inherited cases, with an atypical way of X-linked transmission. OBJECTIVE: To report the case of a patient with epilepsy carrier of a pathogenic variant of the PCDH19 gene, reviewing the natural history of this condition and the available evidence for its management. CLINICAL CASE: Female patient, with normal history of pregnancy and perinatal period. At 6 months, while febrile, she presented focal motor seizure clusters that repeated at 14, 18, 21 months and 3 years old, always associated with fever, even presenting status epilepticus. She is on therapy with topiramate and valproic acid, achieving 13 seizure-free years. The analysis of the SCN1A gene showed no abnormalities and the study of the PCDH19 gene revealed a de novo heterozygous pathogenic variant. The patient evolved with intellectual disability and severe behavioral disorders that require mental health team support. CONCLUSIONS: PCDH19 pathogenic variants have varied phenotypic expression. The genetic diagnosis should be guided with the clinical features. Long-term psychiatric morbidity can be disabling.


Subject(s)
Humans , Female , Adolescent , Cadherins/genetics , Mutation, Missense , Epilepsy/genetics , Intellectual Disability/genetics , Genetic Markers , Diagnosis, Differential , Epilepsy/complications , Epilepsy/diagnosis , Heterozygote , Intellectual Disability/complications , Intellectual Disability/diagnosis
10.
Arq. neuropsiquiatr ; 78(7): 424-429, July 2020. tab, graf
Article in English | LILACS | ID: biblio-1131727

ABSTRACT

ABSTRACT Objective: Ubiquitin C-terminal Hydrolase-L1 (UCH-L1) enzyme levels were investigated in patients with epilepsy, epileptic seizure, remission period, and healthy individuals. Methods: Three main groups were evaluated, including epileptic seizure, patients with epilepsy in the non-seizure period, and healthy volunteers. The patients having a seizure in the Emergency department or brought by a postictal confusion were included in the epileptic attack group. The patients having a seizure attack or presenting to the Neurology outpatient department for follow up were included in the non-seizure (remission period) group. Results: The UCH-L1 enzyme levels of 160 patients with epilepsy (80 patients with epileptic attack and 80 patients with epilepsy in the non-seizure period) and 100 healthy volunteers were compared. Whereas the UCH-L1 enzyme levels were 8.30 (IQR=6.57‒11.40) ng/mL in all patients with epilepsy, they were detected as 3.90 (IQR=3.31‒7.22) ng/mL in healthy volunteers, and significantly increased in numbers for those with epilepsy (p<0.001). However, whereas the UCH-L1 levels were 8.50 (IQR=6.93‒11.16) ng/mL in the patients with epileptic seizures, they were 8.10 (IQR=6.22‒11.93) ng/mL in the non-seizure period, and no significant difference was detected (p=0.6123). When the UCH-L1 cut-off value was taken as 4.34 mg/mL in Receiver Operating Characteristic (ROC) Curve analysis, the sensitivity and specificity detected were 93.75 and 66.00%, respectively (AUG=0.801; p<0.0001; 95%CI 0.747‒0.848) for patients with epilepsy. Conclusion: Even though UCH-L1 levels significantly increased more in patients with epilepsy than in healthy individuals, there was no difference between epileptic seizure and non-seizure periods.


RESUMO Objetivo: Níveis da enzima ubiquitina C-terminal hidrolase-L1 (UCH-L1) foram investigados em pacientes com epilepsia, crise epiléptica, período de remissão e indivíduos saudáveis. Método: Foram avaliados três grupos principais, incluindo crise epiléptica, epilepsia no período não convulsivo e voluntários saudáveis. Pacientes com convulsão no departamento de emergência ou trazidos por confusão pós-ictal foram incluídos no grupo de crise epiléptica. Os pacientes que tiveram crise epiléptica ou foram ao ambulatório de Neurologia para acompanhamento foram incluídos no grupo não convulsivo (período de remissão). Resultados: Os níveis da enzima UCH-L1 de 160 pacientes com epilepsia (80 pacientes com crise epiléptica e 80 pacientes com epilepsia no período não convulsivo) e 100 voluntários saudáveis foram comparados. Enquanto os níveis da enzima UCH-L1 foram 8,30 (IQR=6,57‒11,40) ng/mL em todos os pacientes com epilepsia, os níveis detectados foram de 3,90 (IQR=3,31‒7,22) ng/mL em voluntários saudáveis e aumentaram significativamente na epilepsia (p<0,001). No entanto, ao passo que os níveis de UCH-L1 foram 8,50 (IQR=6,93‒11,16) ng/mL nos pacientes com crise epiléptica, foram 8,10 (IQR=6,22‒11,93) ng/mL no período não convulsivo, e nenhuma diferença significativa foi detectada (p=0,6123). Quando o valor de corte de UCH-L1 foi considerado 4,34 mg/mL com base na análise da curva ROC, sensibilidade e especificidade foram detectadas como 93,75 e 66,00%, respectivamente (AUG=0,801; p<0,0001; IC95% 0,747‒0,848) para os pacientes com epilepsia. Conclusão: Embora os níveis de UCH-L1 tenham aumentado significativamente nos pacientes com epilepsia em relação aos indivíduos saudáveis, não foi observada diferença entre crise epiléptica e períodos não convulsivos.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Seizures/etiology , Ubiquitin Thiolesterase/blood , Epilepsy/diagnosis , Seizures/blood , Biomarkers/blood , Case-Control Studies , ROC Curve , Sensitivity and Specificity , Epilepsy/blood
11.
Medicina (B.Aires) ; 79(supl.3): 20-24, set. 2019. tab
Article in Spanish | LILACS | ID: biblio-1040544

ABSTRACT

Las enfermedades neurometabólicas que manifiestan convulsiones y epilepsia constituyen un amplio grupo de trastornos hereditarios. Se pueden presentar a cualquier edad desde el período neonatal hasta la adolescencia. Las manifestaciones epilépticas pueden ser muy variadas y, en general, se trata de epilepsias refractarias a los fármacos antiepilépticos. La fenomenología epiléptica no contribuye al diagnóstico. Se deben conocer los errores innatos del metabolismo que responden al empleo de cofactores. En descompensaciones agudas es fundamental dar soporte nutricional, hidroelectrolítico y respiratorio. Es muy posible que en pocos años se pueda conocer el perfil metabolómico de estas enfermedades y así profundizar en el diagnóstico no invasivo y ofrecer mayores posibilidades terapéuticas para la epilepsia y especialmente para la enfermedad de base. No debemos olvidar los desórdenes metabólicos transitorios y los desequilibrios hidroelectrolíticos dentro de las causas de las convulsiones, en especial en el período neonatal, que se deben identificar y tratar precozmente para evitar daños mayores.


Neurometabolic diseases that manifest seizures and epilepsy are a large group of inherited disorders. They can present at any age from the neonatal period to adolescence. The epileptic manifestations can be very varied and, in general, they are epilepsies refractory to antiepileptic drugs. Epileptic phenomenology does not contribute to the diagnosis. The inborn errors of metabolism that respond to the use of cofactors should be known. In acute decompensation, it is essential to provide nutritional, hydroelectrolytic and respiratory support. It is possible that in a few years we can detect the metabolomic profile of these diseases, thus knowing better the diagnosis non-invasively and offering greater therapeutic possibilities for their epilepsy and especially for the underlying disease. We must not forget the transitory metabolic disorders and the electrolyte imbalances within the causes of seizures, especially in the neonatal period, and must be identified and treated early to avoid major damages.


Subject(s)
Humans , Infant, Newborn , Epilepsy/etiology , Metabolic Diseases/complications , Seizures/classification , Seizures/etiology , Seizures/therapy , Electroencephalography , Epilepsy/diagnosis , Epilepsy/therapy
13.
Rev. medica electron ; 41(2): 522-529, mar.-abr. 2019. graf
Article in Spanish | LILACS, CUMED | ID: biblio-1004284

ABSTRACT

RESUMEN El síndrome de Blue Rubber Bled Nevus se caracteriza por múltiples malformaciones cutáneas, asociadas con malformaciones menores en órganos internos, (comúnmente afectan los órganos del sistema digestivo y el sistema nervioso central). A nivel mundial, se afirma que hay cerca de 1 a 2 millones de individuos afectados por este síndrome, y se cree que incide en 1 de cada 6000. En recién nacidos la incidencia se ha calculado en menos de 1 caso por 100 000 persona/año. Se presentó un caso de una paciente femenina de 8 años de edad, con antecedentes de hemangiomas múltiples de color azul violáceo, distribuidos por toda la superficie corporal, de diferentes diámetros. Algunos protruyen y depresibles al tacto. Presentaba ptosis palpebral y movimientos torpes de los cuatro miembros, epilepsia y afectaciones del neurodesarrollo el cual corresponde con una edad cronológica de 11 meses. Mostraba una disminución importante de la visión. Presencia de pie valgo a predominio derecho. Apareció anemia leve por déficit de hierro, inmunoglobulina C3 y C4, la química sanguínea al límite de lo normal. La resonancia magnética nuclear mostró importantes signos de atrofia cortical, más acentuados en región temporal derecha. Son entidades de muy escasa presentación y en la provincia de Matanzas es el único caso con este diagnóstico, por lo que constituyó el motivo para la presentación del caso.


ABSTRACT The syndrome of Blue Rubber Bled Nevus is characterized by multiple skin malformations, associated to minor malformations in internal organs (it commonly affects the organs of the digestive system and the central nervous system). It is affirmed that around 1 to 2 millions of individuals are affected by this syndrome worldwide, and it is believed that it has incidence on 1 of each 6000 persons. In newborns the incidence has been calculated in less than 1 case per 100 000 persons/year. The authors presented the case of a female patient, aged 8 years, with antecedents of purplish-blue multiple hemangiomas of different diameters, distributed all over the surface if the body. Several of them are protruding and depressible to the touch. She presented eyelid ptosis and slow movements of the four limbs, epilepsy, and neurodevelopment affectations corresponding to a chronological age of 11 months. She showed an important decrease of the vision. The study showed a slight iron-deficiency anemia, immunoglobulin C3 and C4, blood chemistry at the normal limit. The magnetic resonance imaging showed important signs of cortical atrophy, stronger in the right temporal region. These are entities of scarce presentation and it is the only case with this diagnosis found in the province of Matanzas; that motivated this case presentation.


Subject(s)
Humans , Female , Child , Psychomotor Disorders/diagnosis , Syndrome , Nevus, Blue/diagnosis , Nevus, Blue/microbiology , Nevus, Blue/diagnostic imaging , Hemangioma/diagnosis , Hemangioma/microbiology , Hemangioma/diagnostic imaging , Nevus, Blue/rehabilitation , Epilepsy/diagnosis
14.
Afr. j. neurol. sci. (Online) ; 38(1): 19-27, 2019. ilus
Article in French | AIM, AIM | ID: biblio-1257445

ABSTRACT

Description: L'épilepsie-absence est un syndrome épileptique généralisé, fréquent, de cause présumée génétique, caractérisé par la survenue d'épisodes fréquents de rupture brutale et complète du contact sans perte de tonus. Objectif: L'objectif était de décrire l'épidémiologie et les caractéristiques cliniques de l'épilepsie-absence chez l'enfant et l'adolescent. Méthode: Nous avons mené une étude transversale longitudinale, portant sur 53 patients, de décembre 2003 à mars 2014 en colligeant les données épidémiologiques, diagnostiques, thérapeutiques et évolutives. L'analyse des données s'est faite avec le logiciel statistique CSPro 5.0 avec calcul de fréquences et moyennes. Résultats: Cinquante trois patients dont 42 enfants et 11 adolescents ont été colligé avec un âge moyen de 10 ans. L'âge moyen de début des crises était de 6,8 ans chez les enfants et 12,4 ans chez les adolescents. On notait une prédominance féminine à 52,4 % chez les enfants et masculine à 63,6 % chez les adolescents. Une consanguinité parentale était retrouvée dans 55,5 % chez l'enfant et 37,5 % chez l'adolescent. Quarante pourcent des enfants présentaient des antécédents familiaux d'épilepsie. Les crises survenaient spontanément dans 86,8 % des cas avec une durée moyenne de 10 secondes environ. Le Valproate de sodium a été utilisé chez tous nos patients avec une maitrise dans 81,6 % à trois mois. L'évolution de l'épilepsie-absence était globalement satisfaisante avec des difficultés d'apprentissage observées chez 22,6 % des patients. Conclusion: L'épilepsie-absence est fréquente, de causes multifactorielles et peut retentir sur le devenir psychosocial


Subject(s)
Adolescent , Child , Epilepsy/diagnosis , Epilepsy/epidemiology , Epilepsy/therapy , Prognosis , Senegal
15.
Article in French | AIM, AIM | ID: biblio-1264294

ABSTRACT

Nous rapportons le cas d'une fille gabonaise, âgé de 12 ans, sans antécédent particulier, ayant présenté une sclérose mésio-temporale droite dans les suites de crise épileptique plusieurs épisodes non contrôlées par les antiépileptiques. Cas clinique : Hospitalisée en neurologie au centre hospitalier universitaire(CHU) de Libreville, pour crise épileptique partielle à type de mouvements stéréotypés et répétitifs de mâchonnements et parfois de crise tonicoclonique généralisée, avec morsure latérale de la langue, perte d'urine et amnésie postcritique. L'imagerie par résonance magnétique(IRM) cérébrale en coupe coronale était constituée d'un hypersignal en T2 et T2 FLAIR de la région hippocampique droite témoignant une sclérose mésio-temporale droite. L'électro-encéphalogramme(EEG) était constitué de grapho éléments en fronto-pariétale bilatérale et en temporale droite. Le diagnostic d'épilepsie sur sclérose mésio-temporale était retenu en tenant compte d'un faisceau d'arguments cliniques et paracliniques. Mise sous Lamotrigine et phénobarbital après trois (3) semaines de traitement, l'évolution était stationnaire marquée par la persistance des crises épileptiques. Conclusion : La sclérose mésio-temporale est une cause sous-estimée d'épilepsie temporale chez l'enfant. Notre observation souligne le fait qu'elle est rare dans les hospitalisations de neurologie et qu'il s'agit d'une épilepsie pharmaco-résistante


Subject(s)
Academic Medical Centers , Epilepsy/diagnosis , Gabon , Magnetic Resonance Imaging , Sclerosis
16.
Braz. j. pharm. sci ; 55: e00249, 2019. tab, graf, ilus
Article in English | LILACS | ID: biblio-1011652

ABSTRACT

A series of N-substituted-3-(napthalen-2-yl)-5-substituted phenyl-4,5-dihydropyrazole-1-carbothioamide derivatives (4a-n) were synthesized with the view of structural requirements of pharmacophore for potential anticonvulsant agents. The synthesized compounds were assayed intraperitoneally (i.p.) and subcutaneously (s.c.) in mice against seizures induced by MES and scPTZ methods, respectively.Neurologic deficit was evaluated by rotarod method. Among the tested compounds, 4g, 4i, 4j and 4n emerged as the most active molecule in the MES model at a dose of 30 mg/kg at 0.5h comparable to standardscarbamazepine and phenytoin. In the scPTZ test,4e and 4l were found to be most active compounds at the lowest dose of 30 mg/kg at 0.5h, in the management of the convulsive disorder. Molecular docking studies of the titled compounds were also donewith 3D crystal structure of human cytosolic branched chain amino transferase (hBCATc) enzyme and compound 4e was found to have five hydrogen bond interactions with the most important active site residues.In neurotoxicity studies, except compounds 4b, 4c, 4h and 4k, rest of the compounds showed no sign of toxicity.


Subject(s)
Animals , Male , Female , Mice , Pyrazoles/analysis , Anticonvulsants/analysis , Epilepsy/diagnosis , Molecular Docking Simulation/classification
17.
Medicina (B.Aires) ; 78(supl.2): 6-11, set. 2018.
Article in Spanish | LILACS | ID: biblio-955007

ABSTRACT

Los episodios paroxísticos son uno de los trastornos neurológicos más frecuentes en niños. Es importante diferenciar entre los trastornos paroxísticos no epilépticos, las crisis sintomáticas agudas, las crisis febriles y las crisis no provocadas. La historia clínica permite, en la gran mayoría de los casos, poder llegar al diagnóstico. Las crisis no provocadas únicas son frecuentes en el niño. La tasa de recurrencia tras una primera crisis no provocada varía entre un 23-96% en los dos años siguientes a la primera crisis. El objetivo de este trabajo es describir cómo evaluar al paciente con una primera crisis no provocada y revisar el valor predictivo de los distintos factores de riesgo de recurrencia. Entre dichos factores de riesgo, se evalúan datos como la presencia de antecedentes familiares de epilepsia, historia previa de crisis febriles, edad de debut, tipo de crisis, presencia de crisis prolongadas o crisis agrupadas, crisis de presentación en sueño, anomalías neurológicas, evidencia de una etiología definida, y presencia de anomalías epileptiformes en el electroencefalograma. Los factores de riesgo de recurrencia más importantes son la etiología de las crisis y la presencia de anomalías epileptiformes en el electroencefalograma.


Paroxysmal episodes are one of the most common neurological disorders in children. It is important to distinguish between paroxysmal non-epileptic events, symptomatic seizures, febrile seizures, and unprovoked seizures. Patient's history is the key to proper diagnosis in most of the cases. A single unprovoked seizure is a frequent phenomenon in the pediatric population. Studies of recurrence after a first unprovoked seizure show percentages between 23% and 96% over a median follow-up of two years. The aim of this study is to define how to evaluate the first unprovoked epileptic seizure in a child and to review the weight of the different recurrence risk factors. Several factors enable us to predict the recurrence risk after a first unprovoked seizure including family history of epilepsy, prior history of febrile seizures, age at onset, type of seizure, prolonged seizures at onset, multiple seizures in a single day, sleep state, neurological abnormalities, etiology, and abnormalities in the electroencephalogram. The most important of these risk factors are the etiology of the seizures and the evidence of epileptiform abnormalities in the electroencephalogram.


Subject(s)
Humans , Male , Child, Preschool , Child , Seizures, Febrile/diagnosis , Epilepsy/diagnosis , Recurrence , Magnetic Resonance Imaging , Incidence , Predictive Value of Tests , Risk Factors , Seizures, Febrile/epidemiology , Electroencephalography , Epilepsy/epidemiology
18.
Medicina (B.Aires) ; 78(supl.2): 52-56, set. 2018.
Article in Spanish | LILACS | ID: biblio-955015

ABSTRACT

Los trastornos paroxísticos no epilépticos son comunes en la población de niños pre-escolares. Estas condiciones incluyen una variedad de eventos cuyas manifestaciones y fisiopatología son muy distintas. Por esa razón, el diagnóstico puede representar un difícil reto. En algunas ocasiones, estudios como el EEG o la polisomnografía pueden ayudar a clarificar el diagnóstico y descartar un trastorno epiléptico. Sin embargo, la historia clínica y el examen físico suelen ser suficientes para llegar al diagnóstico correcto. En este artículo, presentamos información sobre los trastornos paroxísticos no epilépticos más comunes en la población de niños pre-escolares, incluyendo: tics, discinesias, eventos relacionados al sueño, etc. Además, discutimos estrategias para el diagnóstico y opciones de tratamiento.


Paroxysmal events are commonly encountered in toddlers. These events include a variety of conditions with different manifestations and pathophysiology. For that reason, the diagnosis of these events can be challenging. In some instances, studies such as EEG and polysomnogram may be useful to differentiate between epileptic and non-epileptic events. In the majority of cases, a complete clinical history is enough to make an appropriate diagnosis. In this article, we review some of the most common paroxysmal non-epileptic events affecting toddlers, such as: tics, dyskinesias, sleep related events, etc. We also discuss diagnostic strategies and treatment options.


Subject(s)
Humans , Child, Preschool , Dyskinesias/diagnosis , Epilepsy/diagnosis , Movement Disorders/diagnosis , Polysomnography , Dyskinesias/classification , Diagnosis, Differential , Electroencephalography , Movement Disorders/classification
19.
Medicina (B.Aires) ; 78(supl.2): 47-51, set. 2018. tab
Article in Spanish | LILACS | ID: biblio-955014

ABSTRACT

Los trastornos paroxísticos no epilépticos (TPNE) se definen como episodios que se repiten periódicamente y que remedan una crisis epiléptica. Su aparición es generalmente brusca y de breve duración, originados por una disfunción cerebral de origen diverso y que no obedecen a una descarga neuronal excesiva (a diferencia de una crisis epiléptica). Su incidencia es diez veces más elevada que la epilepsia y pueden aparecer a cualquier edad, pero son más frecuentes en los primeros años de vida. La inmadurez del sistema nervioso en la infancia hace que en este período las manifestaciones sean muy diversas y diferentes a otras edades. El primer paso para un diagnóstico correcto es un buen interrogatorio y establecer si el episodio puede corresponder a una crisis epiléptica o a un TPNE. El diagnóstico diferencial es muy amplio, especialmente en las primeras edades. Aparte del examen neurológico completo, en caso de duda se debe ampliar el estudio con exámenes complementarios que en la mayoría de las ocasiones serán normales/ negativos. En algunos casos se ha demostrado una base genética. Las opciones terapéuticas son escasas y la mayoría de los TPNE, especialmente en el lactante, desaparecen con la edad sin dejar secuelas.


Non-epileptic paroxysmal disorders (PNED) are defined as events that mimic epileptic seizures. Its onset is usually sudden and short-lived, caused by brain dysfunction of various origins, but not due to excessive neuronal firing. Its incidence is higher than the epilepsy (10:1). They can occur at any age but are most common in children, especially in the first year of life. The immature nervous system in childhood causes in this period, paroxysmal manifestations that are very diverse and different from other ages. Normal and common paroxysmal disorders in children can mimic epileptic seizures. The first step is to establish a correct diagnosis, if the clinical paroxysmal episode is a seizure or PNED. Differential diagnosis is very broad, especially in the first ages. It's necessary a complete neurological examination in case of doubt and the study should be extended with complementary exams, investigations that in most cases will be normal/negative. In some of them, a genetic basis has been shown. Treatment options are limited and most PNED untreated have a favorable outcome.


Subject(s)
Humans , Infant, Newborn , Seizures/diagnosis , Epilepsy/diagnosis , Psychophysiologic Disorders/diagnosis , Seizures/classification , Diagnosis, Differential , Electroencephalography
20.
Medicina (B.Aires) ; 78(supl.2): 42-46, set. 2018. tab
Article in Spanish | LILACS | ID: biblio-955013

ABSTRACT

Los trastornos paroxísticos no epilépticos son eventos frecuentes en el neonato, generalmente transitorios. Sin embargo, por su intensidad pueden ser confundidos como verdaderas crisis epilépticas. El objetivo de esta revisión es actualizar los conceptos en relación a los temblores, mioclonías neonatales benignas del sueño (MNBS) e hiperecplexia. Los temblores son muy frecuentes, una vez identificados debe determinarse si pertenecen a un síndrome de hiperexcitabilidad relacionado con factores maternos o perinatales, en casos idiopáticos se espera buen pronóstico. Las MNBS con frecuencia se confunden con crisis epilépticas, se caracterizan porque las mioclonías son breves y solo se presentan en el sueño, los niños son normales y el EEG también es normal. La hiperecplexia es un trastorno raro, genéticamente determinado, caracterizado por hipertonía y reacciones de sobresalto exagerado ante un estímulo banal, que pueden mejorar con clonazepam.


Non-epileptic paroxysmal disorders are frequent events in the neonate, generally transient. However, due to their intensity they can be confused as true epileptic seizures. The objective of this review is to update the concepts in relation to tremors, neonatal benign sleep myoclonus (MNBS) and hyperekplexia. The tremors are very frequent, once identified it must be determined if they belong to a hyperexcitability syndrome related to maternal or perinatal factors, in idiopathic cases a good prognosis is expected. MNBS are often confused with epileptic seizures. They are characterized by the fact that myoclonus is brief and occurs only in sleep, children are normal, and the EEG is also normal. Hyperekplexia is a rare, genetically determined disorder characterized by hypertonia and exaggerated startle reactions to a banal stimulus, which can be improved with clonazepam.


Subject(s)
Humans , Seizures/diagnosis , Parasomnias/diagnosis , Epilepsy/diagnosis , Hyperekplexia/diagnosis , Diagnosis, Differential , Electroencephalography
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