Epilepsias de origen metabólico en el neonato / Epilepsias de origen metabólico en el neonato

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.

Trastornos paroxísticos no epilépticos en el lactante / Non-paroxysmal disorder in infant

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.

Efficacy, Safety and Tolerability of Trioptal®d: (Oxcarbazepine) in Children and Adolescents with Newly Diagnosed Partial Seizures or Generalized Tonic-Clonic Seizures: Results of a 6 Months, Prospective, Open-Label, Multicentre, Non-Comparative, Observational Post-Marketing Surveillance Study.

Objective: The current study was designed to analyze the extended efficacy and safety of Trioptal® (Oxcarbazepine) in treatment of children and adolescents with newly diagnosed partial seizures or generalized tonicclonic seizures in Indian population. Methods: This was an open-label non-randomized multi-centric observational prospective study (PMS study) across 54 centers in India. Treatment with Trioptal® (Oxcarbazepine) was initiated with a clinically effective dose (8-10 mg/kg/day in children) given in two divided doses as per the prescribing information. The dose was increased depending on the clinical response of the patient. In children, if clinically indicated, the dose was increased by a maximum of 10 mg/kg/day increments at approximately weekly intervals from the starting dose, to a maximum daily dose of 60 mg/kg/day. The efficacy of Trioptal® was assessed primarily by the percentage of seizure-free patients at 24 weeks. Secondary efficacy of the treatment was assessed through: reduction in seizure frequency at 24 weeks and the Global assessment of efficacy by the investigator at 24 weeks. Results: A total of 485 subjects were enrolled in the study. Majority of the subjects (52%) were stabilized at 8-15 mg/kg/day dose of Trioptal® and mean effective dose was 16.1 mg/kg/day (± 7.02). Approximately 70 % of the subjects were seizures free after 24 weeks of Trioptal® treatment and around 88% of the subjects reported the reduction in seizure of more than 50 %. The mean reduction in seizure frequency after 24 weeks of treatment was 82.3%. The overall efficacy with the Trioptal® treatment for 24 weeks was ‘good’ to ‘excellent’ in more than 97% of the subjects as per the assessment by the physician. A total of 59 adverse events were observed in 43 (8.9%) subjects. Headache was the most common adverse event being recorded in 8 subjects, followed by somnolence, nausea, vomiting, skin rash and weight gain. The overall tolerability of Trioptal® as per assessment by the patients was ‘good’ to ‘excellent’ in more than 98% of the subjects. Conclusion: Trioptal® (Oxcarbazepine) treatment is effective, safe and well tolerable in children and adolescents with newly diagnosed partial seizures or generalized tonic-clonic seizures.

Korean Academy of Medical Sciences Pediatric Impairment Guideline for Brain Lesion

The permanent impairment evaluation for children in developmental stage is very difficult and it is even impossible in some cases. The impairment evaluation for developing children has not yet been included in the guideline of the American Medical Association. Due to frequent medical and social demands in Korea, we developed an impairment evaluation guideline for motor impairment, intellectual disability/mental retardation, developmental speech-language disorder and epilepsy caused by pediatric cerebral injuries, or cerebral lesions other than the developmental disorders such as autism. With the help of various literature and foreign institutions, we developed our in order to develop a scientific guideline for pediatric impairment that is suited to Korean cultural background and social condition.

Serum zinc level in children with febrile convulsion and its comparison with that of control group

Febrile convulsion is the most common disorder in childhood with good prognosis. There are different hypotheses about neurotransmitters and trace element [such as zinc] changes in cerebrospinal fluid and serum, which can have a role in pathogenesis of febrile convulsion. The aim of the present prospective analytical case-control study was to determine whether there was any changes in serum zinc level in children with febrile convulsion during seizure. Ninety-two children aged 6 months to 5 years were divided into three groups: group A, 34 children with febrile convulsion, group B, 40 children having fever without convulsion, and group C, and 18 children with non-febrile convulsion. Serum zinc levels for the three groups were estimated by atomic absorption spectrophotometry [AAS]. Data were analyzed to compare zinc level among the three groups using appropriate statistical tools employing SPSS 13. Serum zinc levels of groups A, B, and C had a mean value of 76.82 +/- 24.36mg/1, 90.12 +/- 14.63 mg/1 and 94.53 +/- 17.39 mg/l, respectively. Serum zinc level of group A was lower than those of the other two groups [P < 0.006]. It was also lower in group B than in group C [P < 0.006]. These findings revealed that serum zinc level decreases during infection; this decrease was more significant in patients with febrile convulsion

Seizures in the newborn.

Seizures in the newborn period constitute a medical emergency. Subtle seizures are the commonest type of neonatal seizures, other types being clonic, tonic, and myoclonic. Myoclonic seizures carry the worst prognosis in terms of long-term neurodevelopmental outcome. Hypoxic-ischemic encephalopathy is the most common cause of neonatal seizures. Multiple etiologies often co-exist in neonates and hence it is essential to rule out conditions such as hypoglycemia, hypocalcemia, and meningitis before initiating specific therapy. A comprehensive approach for management of neonatal seizures has been described.

Frequency of seizures and epilepsy after ischaemic stroke

To evaluate the frequency and risk factors of seizures and epilepsy after ischemic stroke. This prospective observational study was conducted on patients with Ischemic Stroke in the Department of Neurology; Postgraduate Medical Institute, Lady Reading Hospital, Peshawar. These stroke patients were followed up for a total period of 2 years. Initially 210 patients were enlisted in the study. Out of these, 10 patients died or lost to follow up so they were excluded from the final analysis leaving a figure of 200. The main outcome measures were the occurrence of single or recurrent seizures as well as the occurrence of both early [within 2 weeks] and late [after 2 weeks] seizures were recorded. Patients who already had history of seizures, those with intra-cerebral bleed and sub-arachnoid hemorrhage were excluded from the study. Out of 200 patients [130 males and 70 female], 6 [3%] patients had early seizures while 10 [5%] patients presented for the first time with late onset seizures. So a total of 16 [8%] patients had post stroke seizures. Early seizures were mostly generalized tonic clonic seizures, while late seizures were mostly partial with or without secondary generalization. Epilepsy characterized by recurrent seizures occured in 3 patient's [1.5%]. Stroke patients have overall 8% risk of seizures and 1.5% risk of epilepsy in the first 2 years after an ischemic stroke. Majority of these seizures occurred after 2 weeks of onset of stroke

Different types of seizures in patients with chronic renal diseases under regular heamodialysis program

This retrospective study was designed to detect the frequency of seizures occurrence in patients with chronic renal failure undergoing regular heamodialysis in Al Gaber Nephrology center Al Ahsa Saudi Arabia ,130 patients were reviewed, seven of them were found to experience one or more seisures during thier dialysis program in the last year 5 of them were found to have tonic clonic seizures, one with partial seizures and one with partial passing into generalized seizures. Three of them were found to experience seizures during heamodialysis session and the others were experiencing seizures in between the dialysis sessions. From this study we could conclude that seizures in patients with chronic renal failure on regular heamodialysis program is an occasional event and not a chronic disorder

Consenso terminológico da associação brasileira de epilepsia / Terminological Consensus of the ABE

O objetivo deste texto é rever a terminologia sobre epilepsia utilizada no Brasil, a fim de unificar termos de uso comum tanto para leigos como para profissionais da área de saúde, uma vez que não há consenso. Em teses e artigos leigos sobre epilepsia são comuns termos como epiléptico e portador sendo a epilepsia referida como uma doença ou uma síndrome. Por outro lado, em reuniões de pessoas com epilepsia o termo paciente com epilepsia é comumente utilizado e os indivíduos ali presentes não são pacientes. A partir da heterogeneidade da epilepsia, o termo distúrbio parece ser o mais abrangente nos âmbitos cientifico e social. A Associação Brasileira de Epilepsia (ABE) propõe a definição de epilepsia baseada na última da Liga Internacional contra a Epilepsia (ILAE) (2005): distúrbio cerebral causado por predisposição persistente a gerar crises epilépticas e pelas conseqüências neurobiológicas, cognitivas, psicossociais e sociais da condição, devendo ter ocorrido pelo menos uma crise epiléptica. A ABE considera que os termos doença, portador, epiléptico devam ser proscritos e a epilepsia deva ser considerada um distúrbio, e os indivíduos que a apresentem, pessoas com epilepsia.

The objective of this paper is to review the terminology about epilepsy used in Brazil, in order to unify terms for lay people and health professionals, hence there is no consensus. Because of the heterogeneity of epilepsy, the term disorder seems to be the more complete regarding scientific and social aspects. The Associação Brasileira de Epilepsia proposes the following definition based on ILAE definition (2005): "Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. The definition of epilepsy requires the occurrence of at least one epileptic seizure". The ABE considers that the terms disease, carrier, epileptic must be outlawed and epilepsy should be considered a disorder, and the individuals that present it, people with epilepsy.

Epilepsy: a family physician' perspective

Epilepsy is characterized by the occurrence of at least two unprovoked seizures. Seizures occur due to abnormal hypersynchronous discharges of cortical neurons and the clinical features depend upon the location and extent of the propagation of the discharging neurons. Family physician should be able to initiate management, alleviate misunderstandings and refer appropriately when required. For this review, literature search was done on PubMed. Only those articles which were related to the family physicians need were selected. They were further reviewed by the authors and data concerning common problems faced by family physicians was extracted and synthesized. This article reviews the definition of common terminology to describe seizures, classifications, clinical manifestations and complications along with the evaluation and management of epileptic seizures

Convulsiones neonatales / Neonatal convulsions

Las convulsiones neonatales son la evidencia más clara de una anormalidad en el funcionamiento cerebral, teniendo una incidencia variable entre 1 a 5 por 1000 RN vivos, asociándose más frecuentemente a una patología subyacente, a diferencia de las condiciones genéticas o idiopáticas que se observan en otras edades. La fisiopatología involucrada incluye una descarga hipersincrónica de un grupo finito de neuronas corticales, a través de diferentes mecanismos que conducen a una despolarización de las membranas neuronales. La clasificación utilizada se fundamenta en una observación cuidadosa de los fenómenos clínicos, siendo los hallazgos motores de tipo tónico, clónico, mioclónico y automatismos los de mayor relevancia, agregándose los datos aportados por el electroencefalograma (EEG) y video-EEG para complementar las apreciaciones clínicas. En el diagnóstico diferencial hay fenómenos motores como el mioclonus benigno del sueño, temblores, movimientos del despertar, reflejos fisiológicos, movimientos conductuales, movimientos extrapiramidales entre otros. Se debe además reconocer si estas forman parte de uno de los síndromes específicos que se inician en el período neonatal. El tratamiento adecuado incluye el de la etiología subyacente así como los fármacos anticonvulsivantes, dentro de los cuales el Fenobarbital, Lorazepam y Fenitoína aún tienen una participación relevante.

Predição da etiologia baseada no tipo clínico das convulsoes no período neonatal / Prediction of etiology based on the clinical type of convulsion in the neonatal period

OBJECTIVE: To determine whether the seizure clinical type is predictive of etiology. METHODS: This is a prospective study from 9 neonatal and pediatric intensive care units. Neonatal seizures were defined clinically as described by Volpe. The seizures etiology was defined by positive clinical date, cranial sonogram and laboratory investigation routinely obtained in all neonates with seizures. Correlation between seizures type and etiologies was determined by Odds ration (OR). RESULTS: During one year 89 neonates develop neonatal seizures and the etiologies were determined. The mains seizures types were: subtle (n = 59; 66.3%), tonic (n = 27; 30.4%), clonic (n = 20; 22.4%), myoclonic (n = 4; 4.5%). The most frequent etiologies determined were: asphyxia (n = 60; 67.4%), hypocalcemia (n = 19; 21.3%), hypoglicemia (n = 14; 15.7%), peri-intraventricular hemorrhage (n = 13; 14%). The OR estimate that clonic seizures (OR 5.65 - 1.34 < OR < 23.61%) is predictive to peri-intraventricular hemorrhage. CONCLUSION: The OR estimate high risk to periventricular hemorrhage when the seizure is the clonic type. When the seizure is subtle type the risk is low to this etiology.

Crise convulsiva na emergência médica / Convulsive crisis in medical emergency

Por ser uma emergência médica, muitas vezes relacionada a uma co-morbidade, a crise convulsiva é tema a ser explorado, visto a sua grande prevalência no atendimento de pronto-socorro. Os autores se propõem a uma revisão deste a etiopatogenia até a orientação para o planejamento terapêutico posterior, fornecendo ao leitor uma fonte de consulta atualizada e sucinta, útil na sua prática diária.

Convulsiones / Convulsions

Es menester conocerlas desde el punto de vista neurológico para discriminar en qué ocasiones se puede actuar con el tratamiento homeopático. Pero es importante tener en cuenta que aún en procesos orgánicos, puede ejercer alguna influencia, mejorando sobre todo el estado general. Siempre debemos intentarlo, sin descartar otro tipo de tratamiento