[Symptomatic epilepsy with Panayiotopoulos-like onset: the importance of neuroimaging]. / Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.

INTRODUCTION: Panayiotopoulos syndrome (PS) is a common form of epilepsy in childhood that is classified as one of the benign idiopathic focal epilepsies. There is no consensus on the indication of neuroimaging in the presence of an electroclinical picture consistent with this disorder. Two cases are presented that began with an electroclinical pattern compatible with PS and in which alterations in the occipital structure were finally detected. CASE REPORTS: Two girls aged 5 and 6 years who began with episodes consistent with PS. In both cases neuroimaging showed structural lesions (cortical dysplasia and pleomorphic xanthoastrocytoma), and hence the final diagnosis was occipital symptomatic focal epilepsy, with the ensuing change in the prognosis and treatment. CONCLUSIONS: The literature describes abnormalities in cranial magnetic resonance imaging in 10-20% of diagnosed cases of PS in which a scan is performed, although the diagnosis of PS is not always changed (matching lesions). Both cases exemplify the importance of reaching a correct diagnosis through a detailed study that must include neuroimaging, since, in some patients, causal brain injuries will be detected and as a result the diagnosis, treatment and evolution will be significantly different.

TITLE: Epilepsia sintomática con inicio que imita el síndrome de Panayiotopoulos: importancia de la neuroimagen.Introducción. El síndrome de Panayiotopoulos (SP) es una epilepsia frecuente en la infancia que se clasifica dentro de las epilepsias focales idiopáticas benignas. No existe consenso sobre la indicación de neuroimagen ante un cuadro electroclínico compatible con este trastorno. Se presentan dos casos que comenzaron con un patrón electroclínico compatible con SP y en los que finalmente se detectaron alteraciones estructurales occipitales. Casos clínicos. Dos niñas de 5 y 6 años que comenzaron con episodios compatibles electroclínicamente con SP. En ambos casos, la neuroimagen mostró lesiones estructurales (displasia cortical y xantoastrocitoma pleomórfico), por lo que finalmente el diagnóstico fue de epilepsia focal sintomática occipital, con el consiguiente cambio en el pronóstico y el tratamiento. Conclusiones. En la bibliografía se describen anomalías en la resonancia magnética craneal en un 10-20% de los casos diagnosticados de SP en los que se realiza una prueba de imagen, aunque no siempre se modifica el diagnóstico de SP (lesiones coincidentes). Ambos casos ejemplifican la importancia de alcanzar un diagnóstico correcto mediante un estudio detallado que ha de incluir la realización de neuroimagen, ya que, en algunos pacientes, se detectarán lesiones cerebrales causales, por lo que el diagnóstico, el tratamiento y la evolución serán drásticamente distintos.

[Symptomatic absence seizures, the least known causation of absence seizures]. / Ausencias sintomaticas, la etiologia menos conocida de las crisis de ausencia.

INTRODUCTION: According to the 1981 International League Against Epilepsy classification, absence seizures are the paradigm of idiopathic generalised seizures of childhood. Although absences are mainly of an idiopathic origin, there are also symptomatic absences, which account for 10% of all cases of absences. It is thought that a structural pathology can favour the appearance of absences in genetically predisposed individuals. CASE REPORTS: We report the cases of two patients with symptomatic absence seizures of childhood onset. The first presented thalamic damage of a perinatal origin and the second had glucose transporter deficiency in the brain. CONCLUSION: A percentage of absence seizures in childhood are of a symptomatic origin. This occurs more frequently in children who present other types of epilepsy, focal or diffuse brain damage, and in early-onset absences.

TITLE: Ausencias sintomaticas, la etiologia menos conocida de las crisis de ausencia.Introduccion. Las crisis de ausencia son el paradigma de las crisis generalizadas idiopaticas de la infancia segun la clasificacion de la Liga Internacional contra la Epilepsia de 1981. A pesar de que las ausencias son mayoritariamente de origen idiopatico, existen ausencias sintomaticas, que suponen un 10% de los casos de ausencia. Se piensa que una patologia estructural puede favorecer la aparicion de ausencias en individuos geneticamente predispuestos. Casos clinicos. Se presentan dos pacientes con crisis de ausencia sintomaticas de inicio en la infancia. El primero muestra un daño talamico de origen perinatal, y el segundo, un deficit del transportador de glucosa cerebral. Conclusion. Existe un porcentaje de las crisis de ausencia en la infancia que presenta un origen sintomatico. Este hecho ocurre con mayor frecuencia en niños que presentan otros tipos de epilepsia, daños cerebrales focales o difusos, y en las ausencias que comienzan de forma precoz.

[Wolf-Hirschhorn syndrome. Description of a Spanish cohort of 51 cases and a literature review]. / Sindrome de Wolf-Hirschhorn. Descripcion de una cohorte española de 51 casos y revision de la bibliografia.

INTRODUCTION: Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that gives rise to multiple congenital anomalies, caused by the loss of a distal portion of the short arm of chromosome 4 (4p16.3). It is characterised by its own peculiar facial phenotype, associated to growth problems, psychomotor retardation and epilepsy. AIMS: To establish a register of patients with WHS in Spain, describe their characteristics, determine the prevalence of epilepsy, estimate the degree of psychomotor retardation and perform a review of the literature in order to compare these data with those published to date. PATIENTS AND METHODS: In collaboration with the Spanish Wolf-Hirschhorn Syndrome Association, we contacted the families affected and collected data via forms endorsed by medical reports. RESULTS: The characteristics of 51 patients are described. Psychomotor retardation was considered the most severe in 37% of cases. Of the total sample, 88% presented epilepsy, and nearly all of them showed growth problems. The mean size of the deletion was 8.4 Mb, and the phenotype is displayed in photographs. Other clinical features reported were sensory alterations and nephrourological and cardiological pathologies. CONCLUSIONS: This study reports on the second largest cohort of patients with WHS with a genetic characterisation published to date. Many of the characteristics coincide with those described previously, with several exceptions, such as the degree of psychomotor retardation, which appears to be lower in the sample studied here.

TITLE: Sindrome de Wolf-Hirschhorn. Descripcion de una cohorte española de 51 casos y revision de la bibliografia.Introduccion. El sindrome de Wolf-Hirschhorn (SWH) es un sindrome de genes contiguos que provoca multiples anomalias congenitas, causado por la perdida de una porcion distal del brazo corto del cromosoma 4 (4p16.3). Se caracteriza por un fenotipo facial peculiar propio, asociado a problemas de crecimiento, retraso psicomotor y epilepsia. Objetivos. Realizar un registro de pacientes con SWH en España, describir sus caracteristicas, conocer la prevalencia de epilepsia, estimar el grado de retraso psicomotor y realizar una revision de la bibliografia para comparar estos datos con lo publicado hasta la fecha. Pacientes y metodos. En colaboracion con la Asociacion Española de Sindrome de Wolf-Hirschhorn se contacto con las familias afectadas y se realizo una recogida de datos mediante formularios corroborados por informes medicos. Resultados. Se describen las caracteristicas de 51 pacientes. El retraso psicomotor fue considerado grave en el 37% de los casos. El 88% presentaba epilepsia, y la practica totalidad, problemas de crecimiento. El tamaño medio de la delecion fue de 8,4 Mb y el fenotipo se expone en fotografias. Otra clinica descrita fueron alteraciones sensoriales y patologia nefrourologica y cardiologica. Conclusiones. Se describe la segunda cohorte en tamaño de pacientes con SWH publicada hasta la fecha con caracterizacion genetica. Muchas de las caracteristicas coinciden con lo ya descrito, salvo algunas, como el grado de retraso psicomotor, que parece ser menor en la muestra estudiada.

[Incontinentia pigmenti. Four patients with different clinical manifestations]. / Incontinencia pigmenti. Cuatro pacientes con diferentes manifestaciones clínicas.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.

[Clustering of cardiovascular risk factors in obese offspring of parents with essential hypertension]. / Agrupamiento de factores de riesgo cardiovascular en hijos obesos de padres con hipertensión esencial.

INTRODUCTION: The prevalence of obesity in industrialized countries is increasing and is closely related to essential hypertension (EHT) in adolescents. OBJECTIVE: To analyze the prevalence of obesity and its association with other known cardiovascular risk factors in a sample of children and young adults with at least one parent with EHT. METHODS: The EHT group consisted 51 children and young adults (28 males [aged 5.4-25.6 years]) with at least one parent with EHT. The control group comprised 73 healthy normotensive children and young adults (43 males [aged 7.2-25.2 years]) who completed the follow-up visits of the RICARDIN study. Blood pressure (BP) was measured with a standardized technique using a mercury sphygmomanometer. A 12-hour fasting blood sample was taken for lipid profile and high sensitivity C-reactive protein (CRP) determinations. Financial support: FIS 03/0350, ESV Foundation Grant, 2003. RESULTS: The prevalence of obesity was five times higher in the EHT group than in controls (19.6% vs. 4.1%, p = 0.007). In this group, obese subjects showed higher systolic BP (122.0 vs. 110.4 mmHg p = 0.004) and lower high-density lipoprotein cholesterol (HDL-C) levels (47.6 vs. 58.0 mg/dl, p < 0.05). After adjustment for age and systolic BP, obese subjects in the EHT group showed significantly higher CRP values than non-obese subjects in this group (p = 0.024). CONCLUSIONS: The prevalence of obesity is higher in the offspring of parents with EHT than in non HT-prone subjects. Clustering of other additional risk factors indicates the need for high-risk preventive interventions in this group of children and young adults.

[Inborn errors of metabolism with neurological symptomathology in the neonatal period]. / Errores congénitos del metabolismo con manifestaciones neurológicas de presentación neonatal.

INTRODUCTION: Congenital metabolic diseases are considered as rare diseases because of their low incidence and their clinical symptoms at onset. Sometimes they can just begin in the neonatal period. Their progressive knowledge and the availability of specific and sensitive biochemical procedures allow us to diagnose many congenital metabolic diseases, which were not recognized some years ago. PATIENTS AND METHODS: We reviewed the 52 patients with congenital metabolic diseases diagnosed for the last 25 years in our centre, evaluating the clinical presentation, neurological symptoms, complementary exams and clinical evolution. RESULTS: The mean age at onset of symptoms was 5 days and the mean age at diagnosis was 88 days of age. We considered a first group of 36 patients with inborn errors of intermediary metabolism, in whom hypotonia, weight loss and seizures are the main symptoms. The second group was composed of 8 patients with defective energy metabolism, who showed abnormal respiratory rhythm and hypotonia. Finally, we considered 8 patients with diseases of the complex molecules, who presented with hypotonia and cataracts as common symptoms at onset. The more common neurological symptoms in this period were hypotonia (60%), sensorial deficit (35%) and refractory seizures (23%). The complementary laboratory tests in the first phases of the diseases allowed us to suspect a congenital metabolic disease especially among intermediary and energy defects. EEG registration and CSF samples were important to diagnose some inborn errors of intermediary metabolism. In the first steps, the neuroimaging was less orientative, even if it allow the exclusion of other diseases. More than half of the patients with inborn errors of metabolism with onset in the neonatal period died within the first year of life. CONCLUSION: It is really important to suspect these diseases in the neonatal period so as to achieve an early diagnosis and therapy which may reduce the morbimortality.