[Epileptic spasms without hypsarrhythmia. A new case report and review of the literature]. / Espasmos epilepticos sin hipsarritmia. Aportacion de un nuevo caso y revision de la bibliografia.

INTRODUCTION: The term 'epileptic spasm' must be used to refer to a type of seizure that is typically found in childhood. Clinically, it is expressed as brief axial contractions, in flexion, extension or mixed, which can be symmetrical or asymmetrical and usually appear in clusters. The best-known epileptic syndrome associated with the appearance of grouped spasms is West's syndrome. They may also appear in other generalised epilepsies, epilepsies with periodic spasms or even seizures that are similar to grouped spasms in certain partial epilepsies. CASE REPORT: A 6-month-old girl with paroxysmal episodes of cluster spasms, for whom no pattern of hypsarrhythmia was observed in the electroencephalogram. The physical examination, neuroimaging and metabolic studies did not offer any pathological findings of interest. The psychomotor development of the patient prior to the onset of the seizures was normal. Following treatment with several different antiepileptic drug regimes, finally control over the seizures was accomplished with a combination of valproic acid and vigabatrine. CONCLUSIONS: There are cases like this, with cluster spasms, which fall within the age bracket at which West's syndrome typically occurs and which, nevertheless, do not present the electroencephalographic characteristics of hypsarrhythmia (neither typical nor atypical) or neuropsychological impairment. In these patients it is not clear whether we are dealing with a variant related with West's syndrome or not, since two of the three criteria required for its diagnosis are not fulfilled.

[Genetic and clinical diagnosis of Angelman syndrome. Case Reviews]. / Síndrome de Angelman: diagnóstico genético y clínico. Revisión de nuestra casuística.

INTRODUCTION: Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. MATERIAL AND METHODS: All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. RESULTS: Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. CONCLUSIONS: The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome.

Síndrome de Angelman: diagnóstico genético y clínico. Revisión de nuestra casuística / Genetic and clinical diagnosis of Angelman syndrome

Introducción. El síndrome de Angelman se caracteriza por retraso mental, epilepsia, déficit del lenguaje, dismorfia facial y un fenotipo conductual característico. Los criterios clínicos diagnósticos están definidos por consenso desde 1995. Está causado por el déficit o inactivación del gen UB3A. Se describen varios tipos de alteraciones genéticas. Existe un porcentaje de casos que, cumpliendo los criterios diagnósticos, los estudios genéticos son negativos. Consideramos necesario analizar las características de nuestros pacientes y las posibles correlaciones fenotipogenotipo. Material y métodos. Se incluyeron todos los casos tratados en la unidad de neurología que cumplieron los criterios diagnósticos, durante el período 1981-2007. Para el diagnóstico genético, se efectuó un análisis de metilación e hibridación fluorescente in situ. Resultados. Se estudió a 13 pacientes, 9 con estudio genético positivo y 4 con genética negativa que cumplieron criterios clínicos. La edad media de diagnóstico fue de 37 meses. Once casos presentaron microcefalia adquirida. Un occipucio plano, malformaciones bucales y maxilares, hipopigmentación, apariencia feliz e hiperactividad fueron unas características prácticamente constantes. Tanto el lenguaje como la marcha fueron las áreas que presentaron un mayor déficit. Doce casos presentaron epilepsia. Tres de los casos con estudio genético normal presentan menos microcefalia y mejor desarrollo psicomotor, sobre todo en la marcha. Conclusiones. Es necesario conocer las características fenotípicas del síndrome para solicitar un estudio genético específico y para establecer el diagnóstico en los casos con genética negativa. En nuestros pacientes se constató el fenotipo característico que describió Angelman. Los casos de deleciones presentaron una mayor gravedad y una peor evolución

Introduction. Angelman syndrome is characterised by mental retardation, epilepsy, speech impairment, facial dysmorphism and a characteristic behavioural phenotype. Diagnostic clinical criteria have been defined by consensus since 1995. It is caused by deficiency or inactivation of the UB3A gene. There is a percentage of cases which satisfy these clinical features but have negative genetic testing. We consider it necessary to analyse the patient characteristics and possible phenotype-genotype correlations. Material and methods. All cases which were treated between 1981 and 2007 in a neurology unit and fulfilled the clinical criteria were included. Genetic diagnosis was made by methylation testing and fluorescent in situ hybridization. Results. Thirteen patients were studied, nine with positive genetic testing and four with negative testing who completed the clinical criteria. The average age at diagnosis was 37 months. Eleven cases showed acquired microcephaly. Flat occiput, mouth and maxillary malformations, hypopigmentation, a happy appearance and hyperactivity were practically constant characteristics. Speech and walking ability were the areas which showed most deficit. Twelve cases had epilepsy. Three of the cases with normal genetic testing showed less microcephaly and better psychomotor development, particularly in walking ability. Conclusions. The phenotypical characteristics of the syndrome should be known before requesting specific genetic testing and to make a diagnosis even in cases with negative genetic. The phenotype characteristics that describe Angelman syndrome were verified. Deletion cases had a worse outcome

Hemiatrofia cerebral congénita / Congenital cerebral hemiatrophy

No disponible

[Statistical (Poisson) motor unit number estimation. Methodological aspects and normal results in the extensor digitorum brevis muscle of healthy subjects]. / Estimación del numero de unidades motoras en un musculo mediante la técnica estadística (Poisson). Aspectos metodológicos y parámetros normales en el extensor digitorum brevis.

INTRODUCTION: Among the differents techniques for motor unit number estimation (MUNE) there is the statistical one (Poisson), in which the activation of motor units is carried out by electrical stimulation and the estimation performed by means of a statistical analysis based on the Poisson s distribution. OBJECTIVES: The study was undertaken in order to realize an approximation to the MUNE Poisson technique showing a coprehensible view of its methodology and also to obtain normal results in the extensor digitorum brevis muscle (EDB) from a healthy population. SUBJECTS AND METHODS: One hundred fourteen normal volunteers with age ranging from 10 to 88 years were studied using the MUNE software contained in a Viking IV system. RESULTS: The normal subjects were divided into two age groups (10 59 and 60 88 years). The EDB MUNE from all them was 184 49. Both, the MUNE and the amplitude of the compound muscle action potential (CMAP) were significantly lower in the older age group (p< 0.0001), showing the MUNE a better correlation with age than CMAP amplitude ( 0.5002 and 0.4142, respectively p< 0.0001). CONCLUSION: Statistical MUNE method is an important way for the assessment to the phisiology of the motor unit. The value of MUNE correlates better with the neuromuscular aging process than CMAP amplitude does.

Estimación del número de unidades motoras en un músculo mediante la técnica estadística (Poisson). Aspectos metodológicos y parámetros normales en el extensor digitorum brevis / Statistical (Poisson) motor unit number estimation. Methodological aspects and normal results in the extensor digitorum brevis muscle of healthy subjects

Introducción. Entre las distintas técnicas para la estimación del número de unidades motoras funcionales dentro de un músculo (MUNE) se encuentra la que describió Daube (1995), en la que la activación de las unidades motoras se realiza por estimulación eléctrica, y la estimación mediante un análisis estadístico basado en la distribución de Poisson. Objetivos. Realizar una aproximación a la técnica MUNE-Poisson y ofrecer una visión comprensible de su metodología. Asimismo, proporcionar valores normales de la MUNE en el extensor digitorum brevis en una población de sujetos sanos. Sujetos y métodos. Se estudian 114 sujetos normales de edades comprendidas entre los 10 y los 88 años mediante el método estadístico de estimación de unidades motoras, disponible en el software de un equipo Viking IV. Resultados. La MUNE en el extensor digitorum brevis fue de 184ñ49. Los sujetos se dividieron en dos grupos de edad (10-59 y 60-88 años). La MUNE y la amplitud del potencial de acción muscular compuesto (CMAP) fueron significativamente menores en el grupo de mayor edad (p< 0,0001); la MUNE mostró una mayor correlación con la edad que la amplitud. (-0,5002 y -0,4142; p< 0,0001). Conclusión. El método estadístico para la estimación de unidades motoras (MUNE-Poisson) es una importante forma de aproximación a la fisiología de la unidad motora. El valor de la MUNE refleja mejor el fenómeno de envejecimiento de la unidad motora que la amplitud del CMAP (AU)

Introduction. Among the differents techniques for motor unit number estimation (MUNE) there is the statistical one (Poisson), in which the activation of motor units is carried out by electrical stimulation and the estimation performed by means of a statistical analysis based on the Poisson’s distribution. Objectives. The study was undertaken in order to realize an approximation to the MUNE-Poisson technique showing a coprehensible view of its methodology and also to obtain normal results in the extensor digitorum brevis muscle (EDB) from a healthy population. Subjects and methods. One-hundred-fourteen normal volunteers with age ranging from 10 to 88 years were studied using the MUNE software contained in a Viking IV system. Results. The normal subjects were divided into two age groups (10-59 and 60-88 years). The EDB MUNE from all them was 184±49. Both, the MUNE and the amplitude of the compound muscle action potential (CMAP) were significantly lower in the older age group (p< 0.0001), showing the MUNE a better correlation with age than CMAP amplitude (-0.5002 and -0.4142, respectively p< 0.0001). Conclusion. Statistical MUNE method is an important way for the assessment to the phisiology of the motor unit. The value of MUNE correlates better with the neuromuscular aging process than CMAP amplitude does (AU)

[Childhood insomnia]. / El insomnio en la infancia.

AIMS: This work reviews the causes of insomnia in children and attempts to show the difficulties involved in performing a diagnosis to differentiate it from other sleep disorders. METHOD: Insomnia is a disorder in which the sufferer has difficulty in falling or staying asleep. There are multifactorial causes involved in the aetiology of childhood insomnia. In order to understand and diagnose insomnia in childhood it is necessary to have a good knowledge of the mechanisms involved in the genesis of sleeping and waking. We must also take the possible existence of other types of disorders into consideration. Insomnia appears as an imbalance between the systems that maintain the waking state and those that are in charge of activating sleep generating systems. In children, this imbalance depends on the state of functional immaturity peculiar to each age. Rather than a shortage of sleep, childhood insomnia takes the form of a lack of matching between the child s own rhythm or need to sleep and his or her family or social environment. Insomnia is most frequently caused by environmental, behavioural and psychological factors. A correct diagnosis of childhood insomnia has to be based on determining a procedure to differentiate it from parasomnias or motor disorders affecting waking and sleep. CONCLUSIONS: Identifying the causes of childhood insomnia, differentiating it from real insomnia and other sleep disorders, and resolving it are no simple matter because of the influence exerted by the environment and the child s behaviour on how he or she sleeps.

El insomnio en la infancia / Childhood insomnia

Objetivo. Este trabajo revisa las causas del insomnio en el niño y trata de poner en evidencia la dificultad del diagnóstico diferencial en relación con otros trastornos del sueño. Desarrollo. El insomnio es un trastorno que se presenta como una dificultad para iniciar o mantener el sueño. La etiología del insomnio infantil presenta causas multifactoriales. Para poder comprender y diagnosticar el insomnio en la infancia es necesario conocer los mecanismos que intervienen en la génesis de la vigilia y del sueño y considerar la existencia de otros tipos de trastornos. El insomnio se presenta como un desequilibrio entre la inhibición de los sistemas que mantienen el estado de vigilia y de aquellos otros encargados de activar los sistemas generadores del sueño. En el niño, este desequilibrio depende de la situación de inmadurez funcional propia de cada edad. El insomnio infantil aparece, más que como una falta de sueño, como una falta de adecuación entre el ritmo y la necesidad de sueño propia del niño y su entorno familiar y social. La causa más habitual del insomnio es ambiental, conductual y de orden psicológico. Ante esta situación, el diagnóstico del insomnio infantil se basa en determinar un diagnóstico diferencial con parasomnias, trastornos motores del sueño y del despertar. Conclusiones. El insomnio infantil plantea problemas para identificar sus causas, para diferenciar entre el auténtico insomnio y otros trastornos del sueño y para su resolución, debido a la influencia que el ambiente y la conducta del niño tienen sobre el sueño (AU)

Aims. This work reviews the causes of insomnia in children and attempts to show the difficulties involved in performing a diagnosis to differentiate it from other sleep disorders. Method. Insomnia is a disorder in which the sufferer has difficulty in falling or staying asleep. There are multifactorial causes involved in the aetiology of childhood insomnia. In order to understand and diagnose insomnia in childhood it is necessary to have a good knowledge of the mechanisms involved in the genesis of sleeping and waking. We must also take the possible existence of other types of disorders into consideration. Insomnia appears as an imbalance between the systems that maintain the waking state and those that are in charge of activating sleep-generating systems. In children, this imbalance depends on the state of functional immaturity peculiar to each age. Rather than a shortage of sleep, childhood insomnia takes the form of a lack of matching between the child’s own rhythm or need to sleep and his or her family or social environment. Insomnia is most frequently caused by environmental, behavioural and psychological factors. A correct diagnosis of childhood insomnia has to be based on determining a procedure to differentiate it from parasomnias or motor disorders affecting waking and sleep. Conclusions. Identifying the causes of childhood insomnia, differentiating it from real insomnia and other sleep disorders, and resolving it are no simple matter because of the influence exerted by the environment and the child’s behaviour on how he or she sleeps (AU)

Muerte súbita y epilepsia. Aspectos clínicos y neurofisiológicos / Sudden unexpected death in epilepsy. Clinical and neurophysiological aspects

La muerte súbita en pacientes epilépticos engloba un conjunto de factores aparentemente heterogéneos pero que interrelacionan entre sí, forman un entramado que nos aproxima a la comprensión de un hecho que resulta inexplicable sin la conjugación de: aspectos clínicos y neurofisiológicos respecto a la epilepsia y el sueño y sus técnicas de exploración (electroencefalográficas y polisomnográficas), aspectos farmacológicos por el tratamiento al que estos pacientes están sometidos, aspectos respiratorios y cardiológicos por su influencia en los episodios, identificación del perfil de riesgo y estrategias de prevención (AU)

[Photosensitive epilepsies of children]. / Epilepsias fotosensibles del niño.

INTRODUCTION: Reflex epileptic seizures are caused by a specific sensorial stimulus which determines their classification. Photosensitive epilepsies are the commonest forms and are included with the idiopathic generalized epilepsies. DEVELOPMENT AND CONCLUSIONS: We analyze the different responses to intermittent light stimulation, in both normal and epileptic persons, and study the various epileptic syndromes in which photosensitivity is seen. The purely photosensitive (photogenic) epilepsies are characterized by seizures caused only by light as compared with the epilepsies with photosensitivity which also present spontaneous seizures. Special mention is made of seizures induced by the television screen, computer screen and video-games. The palpebral myoclonias with absences may be considered to be reflex seizures, since they are induced by eyelid closure, and include the vary rare self-induced epileptic seizures. Finally we study the epileptic seizures induced by pattern and exclusively due to intermittent light stimulation.

[Electroencephalographic diagnosis of the idiopathic generalized epilepsies of childhood]. / Diagnóstico electroencefalográfico de las epilepsias generalizadas idiopáticas de la infancia.

INTRODUCTION: The idiopathic generalized epilepsies of childhood form a heterogeneous group of epileptic syndromes, with certain clinical and electroencephalographic characteristics in common. From the onset, the seizures affect both cerebral hemispheres with generalized clinical expression and from the start there are bilateral electroencephalographic patterns during seizures. These epilepsies have no known causes, there is a genetic predisposition and relation to the age of onset. The electroencephalographic characteristics during and between seizures have points in common: the basal electroencephalographic activity is normal in all the epilepsies of this group, the paroxystic anomalies are generalized, synchronic and symmetrical, and are formed of bilateral discharges of spikes, multiple spikes, spikes and waves and multiple spikes and waves, with discharges at a frequency of 3 Hz or more. DEVELOPMENT: In this article we review the electroencephalographic characteristics during and between seizures of the idiopathic generalized epilepsies and epileptic syndromes of childhood, with particular emphasis on childhood absences, since we consider this to be the commonest and most representative of the idiopathic generalized epilepsies of infancy. CONCLUSIONS: We consider that the electroencephalographic aspects of epilepsies and the epileptic syndromes make up a factor of great importance as a help in confirmation in diagnosis.

Diagnóstico electroencefalográfico de las epilepsias generalizadas idiopáticas de la infancia / Electroencephalographic diagnosis of the idiopathic generalized epilepsies of childhood

Introducción. Las epilepsias generalizadas idiopáticas de la infancia forman un grupo heterogéneo de síndromes epilépticos, que comparten algunas características clínicas y electroencefalográficas comunes. Las manifestaciones críticas afectan desde su inicio a los dos hemisferios cerebrales con expresión clínica generalizada y los patrones electroencefalográficos críticos son desde el inicio bilaterales. Estas epilepsias surgen por razones desconocidas o indeterminadas, existe predisposición genética y guardan una relación con la edad de inicio (epilepsias relacionadas con la edad). Las características electroencefalográficas críticas e intercríticas tienen puntos comunes: la actividad de base electroencefalográfica es normal en todas las epilepsias de este grupo, las anomalías paroxísticas son generalizadas, sincrónicas y simétricas, y están constituidas por descargas bilaterales de puntas, polipuntas, punta-onda y polipunta-onda, que descargan a una frecuencia igual o superior a los 3 Hz. Desarrollo. En este artículo se revisan las características electroencefalográficas ictales e interictales de las epilepsias y síndromes epilépticos generalizados idiopáticos en el niño, con especial énfasis en la epilepsia con ausencias infantiles por considerarla la más frecuente y representativa de las epilepsias generalizadas idiopáticas de la infancia. Conclusión. Consideramos que los aspectos electroencefalográficos de las epilepsias y síndromes epilépticos constituyen un factor de gran importancia como ayuda en la confirmación diagnóstica y para la adecuada determinación sindrómica (AU)

[Atypical benign partial epilepsy of childhood. Clinical follow-up EEG study of 3 patients]. / Epilepsia parcial infantil benigna atípica. Estudio clínico-EEG evolutivo de tres pacientes.

INTRODUCTION AND MATERIAL: Between 369 cases of benign partial epilepsy of the childhood with Rolandic spikes (BECRS) diagnosed in our hospital, we have been able to study three patients that have presented a neurophysiological and clinical presentation that was compatible with the form described by Aicardi and Chevrie in 1982. RESULTS: None of our patients had familial epilepsy precedents. There were no pathological birth or previous neurological disorders. The neurophysiological development was normal until the beginning of the clinical picture. The seizures began when the patients were 3 years and 4 months, and 5 years, with partial seizures of the same characteristic that present patients with BECRS. Two of them had generalized tonic-clonic seizures during sleep. All the patients presented throughout the evolution absences myoclonic and/or atonic seizures. The awake EEG patterns showed normal background activity and paroxysms of focal spike were complexes with diffusion to central areas. During the slow wave sleep, every cases showed paroxysms of diffuse and generalized slow spike and wave complexes practically continuous. The partial seizures were scarce, but the absences and the atonicas seizures presented several times every day, and in one case appeared in the form of a grand mal state. CONCLUSIONS: The evolution of the patients was favourable, as they were free of seizures, with a normal neurophysiological development. At the beginning, the seizures were resistant to treatment with several antiepileptics drugs (AED). The treatment with valproic acid (VPA) and clonazepam (CZP), has been very effective.

[Diagnostic focus on the child with epilepsy and neuropsychological deterioration]. / Enfoque diagnóstico del niño con epilepsia y deterioro neuropsicológico.

Symptomatic epilepsy secondary to hereditary metabolic or degenerative disorders, is usually associated to neurological deterioration. Though epilepsy by itself does not induce neurological deterioration, we should remind that some epileptics encephalopathies, such as the West or Lennox-Gastaut syndromes, do actually induce limited neurological deterioration. Furthermore, in some forms of complex partial epilepsy, motor problems and behavior disorders can be observed, specially in adolescents with temporary lobe epilepsy. Other forms of epilepsy, such as the atypical benign partial epilepsy or the Landau-Kleffner syndrome, can present a certain degree of cognitive deterioration in the evolution, although they can recover later lost functions, totally or partially. The evolution of some refractory epilepsy, as patients are submitted to a multiple treatments, can make us suspect a degenerative disease. In some cases, the diagnosis of the hereditary metabolic and heredodegeneratives diseases can be made by the characteristics of the seizures but in most cases the diagnosis will be established by the symptoms of the basic disease and the lab data.

[Non-hereditary +hyperekplexia. Study of a patient with unusual ictal EEG features and review of the literature]. / Hiperecplexia no hereditaria. Estudio de un paciente con características EEG ictales poco habituales y revisión de la bibliografía.

INTRODUCTION AND CLINICAL CASE: We present a male patient which presented distal muscular stiffness, from the first hours of the life. At this time, he also presented episodes of generalized muscular hypertonia with cyanosis and apnoea, started by somato-sensorial stimuli. Those episodes were terminated by passive flexion of the extremities and the head. Later, dream myoclonic jolts appeared. EEG tracings during hypertonic episodes showed an initial artefact potential followed by bursts of rhythmic and repetitive acute potentials in the bilateral fronto-central regions, at a 20-22 Hz frequency, similar to an epileptiform spike-wave burst. The EMG showed a continuous muscular activity, suppressed by rest and the administration of diazepam. Treatment with oral diazepam has been very effective. Now, the patient is four years old, is asymptomatic and continues treatment with oral diazepam. If the dose is decreased, the child starts unstable march, startle response on somatosensory stimuli with falls, and above all nocturnal myoclonia. The patient does not have familiar antecedents of hyperekplexia, even in its minor form. CONCLUSION: Clinical picture suggests us a not familiar form of hyperekplexia.