[West syndrome: aetiology, therapeutic options, clinical course and prognostic factors]. / Sindrome de West: etiologia, opciones terapeuticas, evolucion clinica y factores pronosticos.

INTRODUCTION: West syndrome is an age-specific form of epilepsy that associates infantile spasms, hypsarrhythmia and a delay in or the complete stoppage of psychomotor development, although this last case is not essential. AIMS: To define the profile of West syndrome in our environment by taking into account its aetiology, semiology, response to different therapeutic options and the appearance of side effects, as well as to establish prognostic factors that determine its course. PATIENTS AND METHODS: A data collection document stating the eligibility criteria was drafted. Data were collected by reviewing the medical records of patients diagnosed with West syndrome during the period between January 2003 and January 2009. Later, a statistical study was conducted with descriptive analysis and the level of statistical significance of the possible prognostic factors was established. RESULTS: The study included 70 patients. There was a predominance of symptomatic aetiology, with hypoxia-ischaemia as the main cause. Regardless of the aetiology, 58% of patients responded to treatment with vigabatrine. Over 80% of patients being treated with adrenocorticotropic hormone were finally seizure-free and without hypsarrhythmia. Almost half the patients progressed to other epilepsies. CONCLUSIONS: The statistically significant poor prognostic factors were: existence of a prenatal history, neonatal history, symptomatic aetiology, age of onset below 4 months, epileptic seizures before the onset of the spasms and outside the neonatal period, and delayed psychomotor development prior to the onset of the spasms.

Crisis epilépticas en el síndrome de Angelman / Epileptic seizures in angelman syndrome

Introducción. El síndrome de Angelman (SA) es un trastorno de base genética heterogénea caracterizado por retraso mental grave, ausencia del lenguaje, ataxia, dismorfia craneofacial y un fenotipo conductual característico. Pacientes y métodos. Se analizan 12 pacientes diagnosticados de SA y epilepsia, con una edad media de 10,9 años. El estudio se centra en las características de la epilepsia y trata de correlacionar los hallazgos con el genotipo de la enfermedad. Resultados. Todos presentaron crisis generalizadas de inicio precoz y, salvo uno, crisis polimorfas. Ocho de ellos presentaron también crisis focales. Todos los pacientes mostraban alteraciones electroencefalográficas antes de los dos años. Aunque no hay alteracionespatognomónicas en el electroencefalograma (EEG), su conocimiento en el SA puede ser un importante elemento de valoración para el diagnóstico precoz de esta entidad. En nuestra serie, todos los pacientes con deleción 15q11-13 presentaron el EEG típico de la enfermedad. El fármaco antiepiléptico más usado y más eficaz fue el ácido valproico (utilizado en todos lospacientes), seguido de lamotrigina y clobazam. En algún paciente se ensayaron hasta 10 fármacos antiepilépticos. La epilepsia suele ser de inicio muy precoz, e incluso precede al diagnóstico de SA en la mayoría de los casos, por lo que las crisis epilépticas pueden ser un elemento importante para llegar a un diagnóstico precoz. Es fundamental la adecuada tipificación de dichas crisis. Conclusión. El SA debe considerarse como diagnóstico diferencial en aquellos niños que presenten una epilepsiaprecoz y grave, en unión de un retraso psicomotor, con importante afectación de la marcha y el lenguaje. Este diagnóstico está apoyado por los hallazgos típicos en el EEG

Introduction. Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised bysevere mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype.Patients and methods. We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. Results. All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focalseizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element ofassessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential.Conclusions. AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG

[Epileptic seizures in Angelman syndrome]. / Crisis epilépticas en el síndrome de Angelman.

INTRODUCTION: Angelman syndrome (AS) is a heterogeneous genetically-based disorder that is characterised by severe mental retardation, absence of language, ataxia, craniofacial dysmorphia and a characteristic behavioural phenotype. PATIENTS AND METHODS: We analyse 12 patients with a mean age of 10.9 years diagnosed with AS. The study focuses on the characteristics of epilepsy and attempts to correlate the findings with the genotype of the disease. RESULTS: All the patients presented early-onset generalised seizures and all except one had polymorphic seizures. Eight of them also presented focal seizures. All the patients displayed electroencephalographic alterations before the age of two years. Although there are no pathognomonic abnormalities in the electroencephalogram (EEG), knowledge of them in AS can be an important element of assessment for reaching an early diagnosis of this condition. In our series, all the patients with 15q11-13 deletion presented an EEG pattern that was typical of the disease. The most commonly used and most effective antiepileptic drug was valproic acid (used in all patients), followed by lamotrigine and clobazam. Up to 10 antiepileptic drugs had been tried in some patients. Epilepsy usually has a very early onset and even precedes the diagnosis of AS in most cases, which means that the epileptic seizures can be an important aid in reaching an early diagnosis. Suitable classification of such seizures is essential. CONCLUSIONS: AS must be considered as a differential diagnosis in children who present early severe epilepsy together with psychomotor retardation and important gait and language disorders. This diagnosis is backed by the typical findings in the EEG.

[Severe myoclonic epilepsy in infancy (Dravet's syndrome). Its nosological characteristics and therapeutic aspects]. / Epilepsia mioclónica grave de la infancia (síndrome de Dravet). Ubicación nosológica y aspectos terapéuticos.

AIMS: Severe myoclonic epilepsy in infancy (SMEI) is an epileptic syndrome recognised by the ICE of 1985 and 1989 and in the proposal put forward by the ILAE Task Force on Classification and Terminology in 2001. In this paper, its historical development, nosological characteristics and treatment are described. DEVELOPMENT: Although identified by Dravet in 1978, it has been called severe myoclonic epilepsy in infancy since 1981. As an alternative the name polymorphic epilepsy has also been put forward and in 2001 the ILAE recognised the eponym Dravet's syndrome. We describe how it may be mistaken for febrile convulsions in the early stages and later for Lennox Gastaut syndrome, Doose's myoclonic astatic epilepsy and certain progressive myoclonic epilepsies. We outline the risk factors, recognised in 1992, that facilitate an early diagnosis and the defining clinical criteria established in 1984. We point out the existence of atypical forms due to the absence of some of the defining criteria, which will never be above one, to formulate a diagnosis of SMEI. The frequency with which a family background of febrile convulsions and epilepsy appears seems to point to a genetic origin. Recently, de novo mutations have been found in the alpha subunit of the voltage dependent sodium channel as well as mutations in the gamma subunit of the GABAA receptor. Nosologically, it is located in group 3 of the 1989 ICE, which corresponds to epileptic syndromes without a focal determination, or which are generalised, and on the list of epilepsy/syndromes that was presented in 2001. SMEI is an epilepsy syndrome which is, in most cases, resistant to classical and new AED, and other more unusual treatment. The drugs that have proved to be more effective, although only relatively so, are topiramate, valproate and the benzodiazepines. At present another alternative that has appeared is stiripentol. Intravenous use of immunoglobulins can be useful. CONCLUSIONS: Dravet's syndrome, admitted as such by the ILAE in 2001 and probably caused by de novo mutations in the sodium channels or in the GABAA receptors, is one of the severest forms of epilepsy in infancy with very little or no response to current antiepileptic drugs. Those that have been seen to be most effective are topiramate, the benzodiazepines, valproate and, more recently, stiripentol.

[Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report]. / Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO). Aportacion de un caso.

INTRODUCTION: Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome) is a pathological process that begins in the first months of life and quickly leads to a very serious encephalopathy. We report the case of an infant suffering from PEHO syndrome and discuss its pathogenesis. CASE REPORT: A 4 year old male, the son of parents who were not blood related, with no pre or perinatal background of interest, who, from the first month, was seen to have a moderate retardation in psychomotor development and generalised hypotonia. These clinical signs increased progressively over the next months. From the age of 6 months onwards infantile spasms were observed, together with an EEG displaying hypsarrhythmic characteristics, slight facial oedema as well as in the hands, abnormal ocular movements and loss of vision with optic atrophy. In the neuroimaging serial studies, MRI showed a progressive atrophy of the brain stem and the cerebellum associated with cortical atrophy, hypoplasia of the corpus callosum and retarded myelination. CONCLUSIONS: Diagnosis of PEHO syndrome is essentially clinical with the help of neuroimaging, since there is no biological or genetic marker. The case described fulfils the criteria required for diagnosis of PEHO syndrome. The existence of cases in the family suggests that PEHO syndrome is due to a genetically based neurodevelopmental disorder. To our knowledge this is the first case reported in Spain.

Encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO). Aportación de un caso / Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report

Introducción. La encefalopatía progresiva con edema, hipsarritmia y atrofia óptica (síndrome PEHO) es un proceso patológico que se inicia en los primeros meses de la vida y conduce rápidamente a una encefalopatía muy grave. Se aporta el caso de un niño afectado de un síndrome PEHO y se discute su patogenia. Caso clínico. Varón de 4 años de edad, hijo de padres no consanguíneos, sin antecedentes prenatales y perinatales de interés, en el que se aprecia desde el primer mes un leve retraso en el desarrollo psicomotor e hipotonía generalizada, signos clínicos que se incrementan progresivamente en los meses siguientes. A partir de los 6 meses se observan espasmos infantiles, EEG de características hipsarrítmicas, ligero edema facial y de manos, movimientos oculares anormales y pérdida de visión con atrofia óptica. En los estudios seriados de neuroimagen, la RM muestra una atrofia progresiva del tronco cerebral y el cerebelo asociada a atrofia cortical, hipoplasia del cuerpo calloso y retraso en la mielinización. Conclusiones. El diagnóstico del síndrome PEHO es esencialmente clínico y de neuroimagen, ya que no existe ningún marcador biológico o genético. El caso presentado reúne los criterios exigibles para diagnosticarse de síndrome PEHO. La existencia de casos familiares sugiere que el síndrome PEHO se debe a un trastorno del neurodesarrollo de base genética.Según nuestro conocimiento, es el primer caso aportado en España (AU)

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[Acquired aphasic epilepsy (Landau-Kleffner syndrome). Report of 10 cases]. / Afasia epiléptica adquirida (síndrome de Landau-Kleffner). Aportación de 10 casos.

OBJECTIVE: The association of a language disorder with epilepsy is observed in some circumstance, with or without a causal relationship. In Landau-Kleffner syndrome (LKS), it is estimated that the aphasia is directly caused by epileptic discharges in language areas. PATIENTS AND METHODS: Ten children with LKS are studied. The clinical and electroencephalographic characteristics in these ten cases were analyzed. RESULTS: Aphasia was present between 3 years and 6 years 5 months of age (X: 4 years 8 months) in a progressive form in 8 cases and abruptly in 2 cases. The epileptic seizures present in nine children began between 22 months and 7 years 3 months of age (X: 4 years 1 month). Focal, multifocal and/or generalized discharges, unstable and variable, were frequently noted during awake state EEG records and on EEGs during the sleep state in four children continuous spike waves during 75-80% of slow sleep were observed. CONCLUSIONS: We discuss the importance of the different clinical and EEG findings in the evolution of aphasia which condition the longterm prognosis, emphasizing the value of the discharges on the sleep EEGs. This suggests that LKS could be the severe form of a more widespread age-dependent epileptic syndrome that also includes the CSWS (epilepsy with continuous spike and waves during slow sleep) and the atypical benign partial epilepsy. Three syndromes have cognitive and behavioral manifestations and continuous spike waves during slow sleep.

[Guillain-Barre syndrome in children. Analysis of 23 cases]. / El síndrome de Guillain Barré en el niño. Análisis de 23 casos.

A group of 23 children aged 5 months to 6 years a diagnosis of Guillain Barré syndrome has been analysed. In 2/3 of our patients the illness appeared in autumn-winter period. We considered muscle weaknesses, pain and impairments of cranial nerves to be the main characteristics of the disease. The presence of denervation activity was an indication of worse evolutive prognosis. Hormone treatment was started in 21 cases and plasma exchange in one more, with rapid reduction of the vegetative and the motor symptoms. The progress was considered to be highly favourable in all of them. One child had a recidivant form of this disease.

[Epileptic sleep seizures in childhood (author's transl)]. / Crisis epilépticas inducidas por el sueño en el niño. Aspectos clínicos.

64 children with seizures occuring during sleep were studied. No claim is made to definitive clinical results, but the clinical peculiarities of certain epileptic crises that tend to occur more frequently in sleep are presented. In 62.5% of all our cases are being treated as benign epilepsy, with centro-temporal E.E.G. foci and typical characteristics of age, hour of appearance and therapeutic response. In 32.5% are generalized seizures, and these have the widest age range at onset. The fits are at times unrelated to the length of previous sleep and respond less favourably to treatment. In 5% are either unilateral seizures or partial complex one. The incidence of a positive family history is higher than found in other epileptic groups, suggesting that sleep seizures are genetically determined.

[Treatment of infantile hydrocephalus with isosorbide dinitrate (author's transl)]. / El tratamiento de la hidrocefalia infantil con dinitrato de isosorbide.

Eighteen of infantile hydrocephalus have been treated with isosorbide dinitrate. Pharmacology of this compound is considered. It appears that completely dinitrated isosorbide is the major metabolite. Isosorbide may be effective in a variable proportion of various types of infantile hydrocephalus. Results of isosorbide dinitrate therapy in children with "communicating" and "noncommunicating" hydrocephalus are reported. Treatment was monitored by simple measurements, and it's toxicity proved to be scanty.