[Characteristics and evolution of patients with Alice in Wonderland syndrome]. / Características y evolución de los pacientes con síndrome de Alicia en el País de las Maravillas.

INTRODUCTION: Alice in Wonderland syndrome is a process characterized for complex disorders of the visual perception with multiple etiologies. AIM: To evaluate the clinical, electrophysiological, etiological characteristics and natural evolution in children with Alice in Wonderland syndrome. PATIENTS AND METHODS: We have realized a retrospective study by what means of a review of 20 clinical histories of 18 year old minor patients diagnosed of Alice in Wonderland syndrome from January 1995 until February 2010. RESULTS: The average of age to the diagnosis was 9.5 ± 3.8 years (range: 4-16 years). It appeared in an acute way in 85% and progressive in 15%. 90% had micropsias and/or macropsias, 85% distortion of the form of the objects, 80% displacement of objects, 45% disturbances of body image, 45% acceleration of the time and 30% sensation of unreality. 95% of the children had many episodes a day; these episodes lasted less than 3 minutes in 90%. Electroencephalogram was realized in all the patients, it was abnormal in 11 cases, in one case was found and epileptic foci (left temporal) and in 10 cases was found posterior slow waves. The tests of neuroimagen were normal in all the patients. The visual evoked potentials were realized in 7 children; five of these children showed higher amplitude in evoked potentials and two of these children had normal. The infectious etiology was found in nine cases (five partners to Epstein-Barr virus), migraine in eight, toxins in two and epilepsy in one case. 80% did not have recurrence. CONCLUSIONS: Alice in Wonderland syndrome is a benign process with trend to spontaneous resolution and without recurrence in the majority of the occasions. The principal etiologies are migraine and Epstein-Barr virus infection.

Desviación tónica de la mirada hacia arriba paroxística desencadenada por ácido valproico en el contexto de una epilepsia focal / Paroxysmal tonic upward gaze deviation triggered by valproic acid within the context of focal epilepsy

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[Panayiotopoulos syndrome: academic difficulties and behavioural disorders]. / Síndrome de Panayiotopoulos: dificultades académicas y alteraciones comportamentales.

INTRODUCTION: Panayiotopoulos syndrome (PS) is one of the benign epilepsies found in childhood. Some papers have shown that patients can present behavioural disorders and learning difficulties. AIMS: To review patients diagnosed with PS in our hospital and to check whether they display evidence of such disorders and if there is any specific feature that allows high-risk patients to be identified. PATIENTS AND METHODS: A retrospective review of the medical records of patients diagnosed with PS was carried out. An electroencephalogram (EEG) or video-EEG-polygraph recordings were performed on all patients during sleep. The Weschler Intelligence Scale for Children was used to evaluate intelligence. RESULTS: Data were collected for 33 patients, 17 of whom were children. The mean age at onset was 3.2 years and the follow-up was 4.9 years (range: 1-12 years). Irritative EEG phenomena were detected in the occipital (67.7%), temporal (45.2%) or parietal regions (22.5%) in 31 patients. Furthermore, 72.7% of patients presented more than two seizures. Twenty-three patients required treatment with antiepileptic drugs. Two patients were diagnosed with attention deficit hyperactivity disorder. Additionally, 30.3% reported dispersed attention and 27.3% had an impulsive character. It was found that 51.1% had a good level of academic achievement, in 26.5% it was regular and in 17.6% poor. A total of 39.4% needed assistance in the form of after-school classes. The level of intelligence was evaluated in 11 patients. CONCLUSION: PS is a condition with a good prognosis, but seems to be associated to learning and behavioural disorders.

Características clínicas, electroencefalográficas y genómicas de los pacientes con epilepsia con crisis febriles plus / Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizueres plus

Introducción. Las mutaciones en los canales de sodio dependientes del voltaje o en los receptores del ácido gamma-aminobutírico son las más frecuentes en el espectro de epilepsias con crisis febriles plus. Objetivo. Describir las características clínicas, electroencefalográficas y genómicas de los pacientes con epilepsia con crisis febriles plus y compararlo con la bibliografía. Pacientes y métodos. Analizamos 26 pacientes con este diagnóstico y estudio genético dirigido, recogiendo variables correspondientes a datos epidemiológicos, características de la epilepsia, evolución, pruebas complementarias, tratamientos antiepilépticos y estudio genético. Resultados. Nueve pacientes presentaron epilepsia generalizada con crisis febriles plus; seis, síndrome de Dravet; seis, síndrome de Dravet borderline; dos, síndrome de Doose; y tres, epilepsia parcial criptogénica. Se evidenció alteración genética en el 62% de los casos. La edad media de inicio de la epilepsia fue de 13,5 meses, siendo menor la edad, con diferencia estadísticamente significativa, en los pacientes con genética positiva. El 58% de los casos sufrió un estado epiléptico al inicio o en la evolución de la epilepsia. El 85% de los casos tomaba ácido valproico. El 58% manifestó deterioro cognitivo. Se realizaron pruebas complementarias en todos los pacientes. Conclusiones. Las epilepsias con crisis febriles plus componen un grupo genéticamente heterogéneo. Las mutaciones de tipo missense son las más frecuentes en nuestro estudio. Aunque las correlaciones fenotipo-genotipo son difíciles de establecer, los pacientes con deleciones mostraron un síndrome de Dravet típico o borderline, mientras que las mutaciones en el receptor del ácido gamma-aminobutírico tienen epilepsia menos grave (AU)

voltagedependent sodium channels or in the gamma-aminobutyric acid receptors. Aim. To describe the clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus and compare them with those found in the literature. Patients and methods. We analysed 26 patients who had been diagnosed with this condition and had had a targeted genetic study with the aim of collecting variables related to epidemiological data, characteristics of the epilepsy, development, complementary tests, antiepileptic treatments and genetic study. Results. Nine patients presented generalised epilepsy with febrile seizures plus; six had Dravet’s syndrome; six had borderline Dravet’s syndrome; two had Doose’s syndrome; and three of them had cryptogenic partial epilepsy. Genetic disorders were observed in 62% of the cases. The mean age of onset of epilepsy was 13.5 months and the age was lower (with statistically significant differences) in patients with positive genetic testing. Epileptic status was suffered by 58% of cases either at onset or in the development of the epilepsy. A total of 85% of cases were taking valproic acid and 58% displayed cognitive impairment. Complementary tests were performed in all the patients. Conclusions. Epilepsies with febrile seizures plus make up a genetically heterogeneous group. Missense mutations were the most common in our study. Although it is difficult to establish phenotype-genotype correlations, patients with deletions showed typical or borderline Dravet’s syndrome, whereas mutations in the gamma-aminobutyric acid receptor had less severe epilepsy (AU)

[Clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus]. / Características clínicas, electroencefalográficas y genómicas de los pacientes con epilepsia con crisis febriles plus.

INTRODUCTION: The most frequent mutations in the spectrum of epilepsy with febrile seizures plus are those in the voltage-dependent sodium channels or in the gamma-aminobutyric acid receptors. AIM: To describe the clinical, electroencephalographic and genomic characteristics of patients with epilepsy with febrile seizures plus and compare them with those found in the literature. PATIENTS AND METHODS: We analysed 26 patients who had been diagnosed with this condition and had had a targeted genetic study with the aim of collecting variables related to epidemiological data, characteristics of the epilepsy, development, complementary tests, antiepileptic treatments and genetic study. RESULTS: Nine patients presented generalised epilepsy with febrile seizures plus; six had Dravet's syndrome; six had borderline Dravet's syndrome; two had Doose's syndrome; and three of them had cryptogenic partial epilepsy. Genetic disorders were observed in 62% of the cases. The mean age of onset of epilepsy was 13.5 months and the age was lower (with statistically significant differences) in patients with positive genetic testing. Epileptic status was suffered by 58% of cases either at onset or in the development of the epilepsy. A total of 85% of cases were taking valproic acid and 58% displayed cognitive impairment. Complementary tests were performed in all the patients. CONCLUSIONS: Epilepsies with febrile seizures plus make up a genetically heterogeneous group. Missense mutations were the most common in our study. Although it is difficult to establish phenotype-genotype correlations, patients with deletions showed typical or borderline Dravet's syndrome, whereas mutations in the gamma-aminobutyric acid receptor had less severe epilepsy.

Hemangiomas infantiles gigantes de cabeza y cuello con malformaciones de fosa posterior / Giant infantile hemangiomas of head and neck with posterior fossa anomalies

La asociación entre hemangiomas infantiles gigantes de cabeza y cuello de ciertas características morfológicas y malformaciones de la fosa craneal posterior son parte fundamental de un síndrome malformativo complejo bien definido, para el que se ha propuesto el acrónimo PHACE: anomalías de la fosa posterior, hemangioma, anomalías arteriales, coartación de aorta y anomalías cardíacas y alteraciones oculares (del inglés eye).Presentamos los casos de tres niñas que presentaban hemangiomas gigantes de cabeza y cuello asociados a anomalía de Dandy-Walker (tres casos), estrabismo (tres casos) y anomalías arteriales del tronco carotídeo ipsilateral al hemangioma (un caso). En los tres pacientes los corticosteroides por vía general fueron eficaces para el tratamiento del hemangioma gigante (AU)

Mancha mongólica generalizada en un niño con gangliosidosis GM1 tipo 1 / Extensive mongolian spot in a child with GM1, type 1 gangliosidosis

Se presenta el caso de un niño de raza blanca, de 9 meses de edad, con gangliosidosis GM1 tipo 1 que presentaba una mancha mongólica generalizada. Los casos informados con esta asociación bien pueden apoyar una relación causal entre ambas enfermedades o bien puede considerarse que la mancha mongólica generalizada sea una manifestación de la gangliosidosis GM1 (AU)