[Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects]. / Epilepsia mioclónica severa de la infancia. Aspectos clínicos y paraclínicos.

INTRODUCTION: Severe myoclonic epilepsy in infancy (SMEI), or Dravet s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process. PATIENTS AND METHODS: The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages. RESULTS: In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs. CONCLUSIONS: The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype genotype correlation of the disease.

Epilepsia mioclónica grave de la infancia. Aspectos clínicos y paraclínicos / Severe myoclonic epilepsy in infancy. Clinical and paraclinical aspects

Introducción. La epilepsia mioclónica grave de la infancia (EMGI) o síndrome de Dravet constituye una de las formas de epilepsia más graves de la infancia. En el presente estudio se analizan las características clínicas del proceso. Pacientes y métodos. Se revisan los casos descritos en la literatura, junto con la casuística personal, tanto desde un punto de vista clínico como paraclínico, y se valoran la forma de inicio y las manifestaciones clínicas, electroencefalográficas y de neuroimagen en las diferentes edades. Resultados. En la mayor parte de los casos el cuadro se caracteriza por su inicio en el primer año de vida, con crisis febriles, desarrollo normal previo al inicio de las crisis, gran variedad en la fenomenología crítica a lo largo de la evolución, resistencia temprana al tratamiento, normalidad inicial del EEG y deterioro neurológico progresivo con ataxia y piramidalismo. Conclusiones. El diagnóstico de la EMGI depende de la combinación de manifestaciones clínicas y electroencefalográficas en diferentes edades, entre las que la presencia de crisis mioclónicas constituye el hecho más relevante. La falta de criterios diagnósticos estrictos hace que puedan existir casos no identificados perfectamente. También existe un cierto porcentaje de casos que no cumplen todos los criterios señalados. La reciente descripción, como probable responsable del proceso, de una mutación de la subunidad a de un canal neuronal de sodio dependiente de voltaje (SCN1A) en el cromosoma 2q24 va a permitir el cribado en las fases iniciales de la enfermedad, así como el estudio de la correlación entre el fenotipo y el genotipo del síndrome (AU)

Introduction. Severe myoclonic epilepsy in infancy (SMEI), or Dravet’s syndrome, is one of the most serious forms of epilepsy in infancy. In this study we analyse the clinical characteristics of the process. Patients and methods. The cases reported in the literature are surveyed, together with a personal casuistic, from both a clinical and paraclinical point of view, and we assess the form of onset and the clinical, EEG and neuroimaging manifestations at different ages. Results. In most cases the disorder is characterised by onset during the first year of life, with febrile seizures, normal development prior to the onset of the seizures, multivariate critical phenomenology throughout the progression, early resistance to treatment, initial normality of EEG results and progressive neurological deterioration with ataxia and long tract signs. Conclusions. The diagnosis of SMEI depends on the combination of clinical manifestations and EEG at different ages, and the presence of myoclonic seizures constitutes the most significant fact. The lack of strict diagnostic criteria allows for the existence of cases that are not perfectly identified. A percentage of cases exist that do not fulfil all the abovementioned criteria. The recent description of a mutation in the alpha subunit of a neuronal voltage-dependent sodium channel (SCN1A) in chromosome 2q24, as the likely source of the process, will allow screening to be carried out in the early phases of the disorder. It will also allow studies to be conducted on the phenotype-genotype correlation of the disease (AU)

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies]. / Enfermedad de Lafora. Confirmación diagnóstica por genética molecular de un nuevo caso.

INTRODUCTION: Lafora s disease is a type of progressive myoclonic epilepsy with bad prognosis. Until now diagnosis was based on finding characteristic intracytoplasmatic polyglucosan bodies in biopsies of sweat secreting cells in the skin. Recently the gene responsible has been discovered. This permits firm diagnosis and screening of carriers. We present the case of a child diagnosed on molecular genetic studies. CLINICAL CASE: A 12 year old boy with a clinical history of three febrile seizures at the age of one year but no other abnormalities, presented a seizure of visual disorder with secondary generalization. There was no family history of seizures. Following a period of normality he had further seizures (clonic, visual and generalized myoclonic). The EEG showed generalized spike and wave activity, which was more marked after stimulation by light and became progressively worse. Neuroimaging studies were normal. In spite of treatment there was a progressive increase in visual and generalized myoclonic seizures together with deterioration of cognitive function and ataxia. Histological studies of the sweat glands showed homogeneous nodular deposits of intracytoplasmatic PAS+. Molecular studies of the EPM2A gene linked to chromosome 6q24 showed the presence of two mutations on the 1 and 4 exons. CONCLUSIONS: We describe a 12 year old patient with all the clinical features of Lafora type progressive myoclonic epilepsy in whom characteristic cytoplasmic bodies were found in the sweat gland biopsy. Molecular genetic studies of the EPM2A gene confirmed diagnosis of the disorder.

Enfermedad de Lafora. Confirmación diagnóstica por genética molecular de un nuevo caso / Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies

Introducción. La enfermedad de Lafora es un tipo de epilepsia mioclónica progresiva de evolución grave. Hasta la actualidad el diagnóstico se basaba en el hallazgo de los característicos cuerpos poliglucosanos intracitoplasmáticos en las células sudoríparas a través de la biopsia cutánea. El reciente descubrimiento del gen responsable nos permite un diagnóstico de certeza y el cribado de portadores. Presentamos un caso pediátrico diagnosticado por genética molecular. Caso clínico. Varón de 12 años de edad, con el único antecedente de tres crisis febriles al año de edad, que presenta una crisis de sintomatología visual con generalización secundaria. No existían antecedentes familiares de crisis convulsivas. Tras un período libre las crisis reaparecen, tanto clónicas, visuales como mioclónicas generalizadas. El EEG muestra una actividad generalizada de punta y polipunta-onda más evidente durante la estimulación luminosa, con empeoramiento progresivo. Los estudios de euroimagen fueron normales. A pesar del tratamiento se observa un progresivo aumento de las crisis visuales y mioclónicas generalizadas junto con deterioro de las funciones cognitivas y ataxia. El estudio histológico de glándulas sudoríparas muestra depósitos homogéneos nodulares intracitoplasmáticos PAS+. El estudio molecular del gen EPM2A ligado al cromosoma 6q24 muestra la presencia de dos mutaciones en los exones 1 y 4. Conclusiones. Describimos un paciente de 12 años que presenta todos los aspectos clínicos de la epilepsia mioclónica progresiva tipo Lafora con el hallazgo de los característicos de cuerpos citoplasmáticos en la biopsia de glándulas sudoríparas. El estudio por genética molecular del gen EPM2A confirma el diagnóstico de la enfermedad (AU)

No disponible

[Neonatal EEG trace of burst suppression. Etiological and evolutionary factors]. / Trazado EEG neonatal de salva supresión. Factores etiológicos y evolutivos.

INTRODUCTION: The electroencephalographic (EEG) trace seen during the neonatal period which shows so called discharges of burst suppression, is caused by a severe disorder of cerebral electrogenesis occurring at this time. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of newborn babies with this type of EEG trace. PATIENTS AND METHODS: We made a retrospective study of fullterm babies in whom burst suppression EEG recordings had been obtained during the neonatal period. RESULTS: We studied 34 patients. In 14 cases the trace was associated with hypoxic ischemic encephalopathy; 4 with meningitis; another 4 with early infantile epileptic encephalopathy (Ohtahara syndrome); 4 cases were attributed to drugs (4 with fentanyl associated in one case with phenobarbitone and in another with midazolam); 2 cases were due to early myoclonic epilepsy; 3 to multiple organ failure; one to non ketotic hyperglycinemia and another to leucinosis. In one patient the aetiology could not be determined. Seven patients died before the age of 6 months. Severe neurological sequelae were seen in all the others except for four cases (3 treated with fentanyl and one case with hypoxic ischemic encephalopathy). CONCLUSIONS: The presence of a burst suppression EEG trace in a neonate makes extensive study to determine the aetiology necessary. Although associated with a worse prognosis, those not treated with piperidine derivatives should be classified separately. Those treated with piperidine derivatives have a good prognosis.

Hypohidrosis related to the administration of topiramate to children.

PURPOSE: Topiramate (TPM) is an antiepileptic agent, first licensed in the United Kingdom in 1994, that is used in the treatment of patients with refractory seizure disorders. TPM is a monosaccharide d-fructose derivate, with sulfamate function, and so far, few adverse side effects have been reported. METHODS: We describe three patients with epilepsy who were treated with TPM and developed hypohidrosis, heat and exercise intolerance, as well as fever. The sudomotor function was assessed after peripheral stimulation with pilocarpine iontophoresis. RESULTS: Sweat response was reduced in all three patients. Signs and symptoms ceased after drug suppression. CONCLUSIONS: This side effect associated with TPM, which has not been described previously, can be clinically significant during heat stress and exercise challenge.

Coma alfa: correlación clínica, electroencefalográfica y etiológica en la edad pediátrica / Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood

Introducción. El coma alfa se define por la aparición en un paciente inconsciente de actividad electroencefalográfica en la banda de frecuencia alfa (8-13 Hz). Objetivo. Determinar en nuestro medio la incidencia, etiología, significado clínico y evolución de coma alfa en pacientes pediátricos con revisión de la literatura. Pacientes y métodos. Se realizó un estudio retrospectivo de aquellos pacientes ingresados en una unidad de cuidados intensivos pediátricos que habían presentado durante su estado de coma neurológico un trazado de actividad alfa. Resultados. Se recogieron sólo 2 pacientes de 5 y 12 años. Ambos eran portadores de una cardiopatía congénita compleja presentando en el primer y décimo día del postoperatorio una parada cardiorrespiratoria. Se practicaron varios EEG mientras persistió el coma y no se utilizó coma barbitúrico. Ambos presentaron un nivel mesencefálico de afectación clínica durante la duración del trazado alfa. Dicho patrón fue bilateral, arreactivo y precedido de un patrón theta, apareció al segundo día de la parada cardiorrespiratoria, se mantuvo durante 2 y 3 días en cada caso y se siguió de un patrón delta. El segundo caso presentó finalmente un trazado de burst-suppression. La TAC fue normal. Ambos pacientes fallecieron a los 4 y 11 días de la aparición del coma alfa. Conclusiones. El coma alfa es muy infrecuente en la infancia. Tanto su etiología como su mal pronóstico son similares a la edad adulta. El coma alfa es un patrón electroencefalográfico transitorio en la evolución del coma que pensamos sea debido a una probable afectación mesencefálica (AU)

[Schilder's diffuse myelinoclastic sclerosis]. / Esclerosis mielinoclástica difusa de Schilder.

OBJECTIVE: The aim of this study is to analyze clinical features, neuroradiological findings and evolution associated with Schilder s disease (SD). PATIENTS AND METHODS: We describe 5 cases (4 female/1 male) diagnosed of SD. Clinical characteristics, neuroimaging (CT and MRI), EEG, evoked potential analysis (4/5) and laboratory tests are provided, including the level of serum very long chain fatty acid of plasma cholesterol esters (3/5). RESULTS: Patients were aged between 7 and 12 years. The first clinical manifestations were: hemiparesis (3/5), quadriparesis dysarthria (1/5), and seizures cerebellar dysfunction (1/5). Other clinical features were: partial seizures (3/5), cerebellar dysfunction (2/5), loss of sensibility (3/5), visual loss (1/5), and dysarthria (2/5). CT scan and MRI showed large zones of hypodensity in the hemispheric white matter (4/5) with enhancement in T2 weighted MRI images. This finding was also observed in medulla (1/5) and cerebellum (1/5). Laboratory data were normal. EEGs showed general slow background patterns in all cases. Abnormal evoked potential analysis were recorded in 3 children. Clinical improvement followed the steroid therapy in all cases. Clinical evolution was: minimal motor disabilities (5/5), recurrences (3/5), controlled seizures (3/3), and psychomotor retardation (1/5). CONCLUSIONS: SD is a rare demyelinating disorder, with a probable relationship to multiple sclerosis. The course of this disease is unpredictable; recurrences may appear and sequelae are frequently observed. Diagnosis should be based on clinical features, neuroradiological findings and evolution.

[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children]. / Hipodensidad bilateral de ganglios basales en neuroimagen. Correlato clinicoevolutivo en la edad pediátrica.

INTRODUCTION: The presence in neuroimaging of areas of symmetrical bilateral hypodensity in the basal ganglia (SBHBG) is a striking and unusual finding. OBJECTIVE: To determine the aetiology, clinical significance and evolution of a group of paediatric patients with SBHBG. PATIENTS AND METHODS: We made a study of 21 patients with neuroimaging studies (CT or MR) showing SBHBG. The affected area was related to the aetiology, clinical features and evolution. RESULTS: The ages varied between 4 months and 16 years. In 7 cases Leigh s disease was diagnosed, 5 had had acute hypoxia, 4 type I glutaric aciduria, and 1 case each of methylmalonic aciduria, Ia gluconeogenesis, CO intoxication, acute striatal necrosis and bacterial meningitis. The putamen was affected in 6 cases, globus pallidus in 4 cases and the lenticular nucleus was damaged in the rest. Three cases also had lesions in the caudate nucleus. MR was better than CT for localization of the precise area involved. Clinically, 13 cases had extrapyramidal signs. We found no relation between the size, localization of the lesion and the prognosis, which was more dependent on the aetiology, only one patient (CO intoxication) recovered and eight died (Leigh s disease and 1 case of hypoxia). CONCLUSIONS: The presence of SBHBG in a patient makes extensive study necessary to find the aetiology. It is a nonspecific finding, usually of metabolic origin and with little correlation with the clinical condition. Its presence implies a poor prognosis and raises suspicion of the presence of certain neurological disorders.

Esclerosis mielinoclástica difusa de Schilder / Schilder's diffuse myelinoclastic sclerosis

Objetivos. El propósito de este estudio es analizar las características clínicas, los hallazgos neurorradiológicos y la evolución asociada con la enfermedad de Schilder (ES). Pacientes y métodos. Describimos cinco casos (cuatro mujeres y un varón), diagnosticados de ES. Se aportan las características clínicas, la neuroimagen (TC y RM), el EEG, el estudio con potenciales evocados (4/5) y los parámetros analíticos, incluyendo los niveles de ácidos grasos de cadena muy larga de los ésteres del colesterol en suero (3/5).Resultados. Los pacientes tenían edades comprendidas entre 7 y 12 años. Las primeras manifestaciones clínicas fueron: hemiparesia (3/5), tetraparesia-disartria (1/5) y crisis convulsivas-síndrome cerebeloso (1/5). Otros hallazgos clínicos evolutivos fueron: crisis parciales (3/5), síndrome cerebeloso (2/5), alteración de la sensibilidad (3/5), pérdida de agudeza visual (1/5) y disartria (2/5). La TC y la RM mostraron grandes zonas de hipodensidad en la sustancia blanca de los hemisferios cerebrales (4/5), hiperintensas en las imágenes de RM en T2. Este hallazgo se observó en médula (1/5) y cerebelo (1/5). Los parámetros analíticos fueron normales. El EEG mostró lentificación focal o difusa del trazado en todos los casos. Se registraron potenciales evocados patológicos en tres niños. Se observó mejoría clínica tras corticoterapia en todos los casos. La evolución clínica fue: mínima afectación motora (5/5), recidivas (3/5), crisis epilépticas controladas (3/3) y retraso psicomotor (1/5). Conclusiones. La ES es un proceso desmielinizante poco frecuente, probablemente relacionado con la esclerosis múltiple. El curso de esta enfermedad es impredecible, pueden aparecer recidivas y se observan secuelas frecuentemente. El diagnóstico se basa en las características clínicas, neurorradiológicas y evolutivas (AU)

Hipodensidad bilateral de ganglios basales en neuroimagen. Correlato clinicoevolutivo en la edad pediátrica / Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children

Introducción. La presencia en neuroimagen de áreas de hipodensidad bilateral y simétrica en ganglios basales (HBSGB) es un hallazgo llamativo y poco frecuente. Objetivo. Determinar la etiología, significado clínico y evolución de un grupo de pacientes pediátricos con HBSGB. Pacientes y métodos. Se realizó estudio de 21 pacientes que presentaron en neuroimagen (TC o RM) una HBSGB. Se relacionó el área afectada con la etiología, clínica y evolución. Resultados. La edad varió entre 4 meses y 16 años. En 7 casos se diagnosticó una enfermedad de Leigh, 5 hipoxia aguda, 4 aciduria glutárica tipo I y 1 caso de aciduria metilmalónica, glucogenosis Ia, intoxicación por CO, necrosis estriatal aguda y meningitis bacteriana. El putamen estaba afectado en 6 casos, el pálido en 4 y en el resto todo el núcleo lenticular se hallaba lesionado. En tres casos coexistió lesión en caudados. La RM fue superior a la TC para la localización exacta del área afecta. Clínicamente, 13 casos presentaban signos extrapiramidales. No encontramos relación entre el tamaño, localización de la lesión y el pronóstico, el cual dependía más de la etiología. Sólo un paciente (intoxicación por CO) evolucionó con normalidad y ocho fallecieron (enfermedad de Leigh y 1 caso con hipoxia). Conclusiones. La presencia de una HBSGB en un paciente obliga a un exhaustivo estudio etiológico. Es un hallazgo inespecífico, más frecuentemente de origen metabólico y de escasa correlación con la clínica. Su presencia implica un pronóstico sombrío y es guía para sospechar ciertos procesos neurológicos (AU)

[The prevalence of headache in a population of patients with coeliac disease]. / Prevalencia de cefalea en una población de enfermos celíacos.

INTRODUCTION: Headache is the commonest clinical symptom during childhood and adolescence, from a neurologist s point of view. The pathophysiology of migraine and tension headache involve personality and biochemical factors, such as serotonin, which are also common in coeliac disease. OBJECTIVE: To establish the prevalence of headache in children and adolescents with coeliac disease, and any possible relation between these conditions. PATIENTS AND METHODS: We made a randomized selection of 86 patients with coeliac disease. All were on gluten-free diets and had no current gastroenterological symptoms. They had direct interviews and full physical and neurological examinations. The diagnosis of headache was based on criteria of the International Headache Society in 1988. RESULTS: The average age was 12.71 +/- 4.5 years (range 5-24). Headache occurred in 34 (39.5%) of the 86 patients studied. In 18 cases (20.9%) headache was of tension type and in 16 (18.6%) of migraine type. Of the latter, 10 cases had auras and 6 did not. There was no significant sex difference. CONCLUSIONS: An increased prevalence of both migraine and tension headaches was observed in the coeliac patients studied as compared with data published in the literature. In the former patients there was also a lower frequency in histories of migraine in first degree family members. This data is probably related to the personality of the patient or to his family or social circumstances in the case of tension headaches. In the case of migraine it may be due to biochemical factors such as a lowered plasma serotonin, seen both in coeliac disease and in migraine.

Prevalencia de cefalea en una población de enfermos celíacos / The prevalence of headache in a population of patients with coeliac disease

Introducción. La cefalea es el síntoma clínico más frecuente durante la infancia y adolescencia desde un punto de vista neurológico. En la fisiopatología de la migraña y cefalea tensional intervienen factores de personalidad y bioquímicos como la serotonina, comunes a la enfermedad celíaca. Objetivo. Establecer la prevalencia de cefalea en niños y adolescentes con enfermedad celíaca y de la posible relación entre ambas entidades. Pacientes y métodos. Se seleccionaron de forma aleatoria 86 pacientes afectos de enfermedad celíaca. Todos ellos seguían dieta libre de gluten y estaban asintomáticos desde el punto de vista gastroenterológico. Se efectuó entrevista directa y completa exploración física y neurológica. El diagnóstico de cefalea se basó en los criterios de la International Headache Society de 1988. Resultados. La edad media fue de 12,71 ñ 4,5 años (intervalo 5-24). De los 86 casos, 34 (39,5 por ciento) pacientes presentaban cefalea. En 18 casos (20,9 por ciento) la cefalea era de tipo tensional y en 16 (18,6 por ciento) era de tipo migrañoso, 10 casos sin aura y 6 con aura. No encontramos diferencias significativas en cuanto al sexo. Conclusiones. Se observa un aumento en la prevalencia de cefaleas en los pacientes celíacos estudiados, tanto del tipo migrañoso como del tipo de cefalea tensional comparativamente con los datos descritos en la literatura. En el primer caso, también se evidencia una disminución en la frecuencia de antecedentes de migraña en familiares de primer grado. Estos datos probablemente estarían en relación con las características en la personalidad del paciente o en su entorno familiar o social, en el caso de cefaleas tensionales, y en el caso de la migraña podría ser motivado por factores bioquímicos tales como el descenso de serotonina plasmática, presente tanto en la enfermedad celíaca como en la migraña (AU)

[Alpha coma: clinical, electroencephalographic and aetiological correlation in childhood]. / Coma alfa: correlación clínica, electroencefalográfica y etiología en la edad pediátrica.

INTRODUCTION: Alpha coma is defined as the appearance, in an unconscious patient, of EEG activity in the alpha frequency band (8-13Hz). OBJECTIVE: To determine, in our setting, the incidence, aetiology, clinical significance and course of alpha coma in paediatric patients and review the literature. PATIENTS AND METHODS: We did a retrospective study of the patients admitted to a paediatric intensive care unit who had alpha activity recorded whilst in coma. RESULTS: Only two patients, aged 5 and 12 years, were found. Both had complex congenital cardiopathy and cardio-respiratory arrest one and twelve days postoperatively, respectively. Several EEGs were done whilst they were in coma. Barbiturate coma was not used. Both had clinical mid-brain involvement during alpha recording. The pattern was bilateral, arreactive and preceded by a theta pattern, appeared two days after the arrest, was maintained for two and three days in the two cases and was followed by delta pattern. The second case finally showed a 'burst-suppression'. The CAT was normal. The patients died 4 and 11 days after the appearance of alpha coma. CONCLUSIONS: Alpha coma is rare in childhood. Both the aetiology and the bad prognosis are similar to that of adults. Alpha coma is a transient EEG pattern occurring during the evolution of coma. We consider it to be due probably to mid-brain involvement.

[Occipital leptomeningeal angiomatosis without facial angioma. Could it be considered a variant of Sturge-Weber syndrome?]. / Angiomatosis leptomeníngea occipital sin angioma facial. Debe considerarse como variante del síndrome de Sturge-Weber?

INTRODUCTION: The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber syndrome. The cases with absence of a facial angioma are usually considered to be variants of the syndrome. OBJECTIVE: To present four cases with occipital leptomeningeal angioma without facial angioma and describe the characteristics which differentiate them from or permit their inclusion within the group of Sturge-Weber syndrome, and also to establish the differences between this and the Gobbi syndrome (occipital cerebral calcifications, epilepsy and coeliac disease. CLINICAL CASES: We selected four cases in whom cranial magnetic resonance was done with intravenous gadolinium and three cases studied to rule out coeliac disease. The cerebral calcifications, unilateral in all four cases, were similar to those observed in the Sturge-Weber syndrome. All cases had leptomeningeal angiomas at the level of the cerebral calcification shown by the uptake of contrast material on magnetic resonance. Three patients had epilepsy but none had facial angiomas, hemiparesis or glaucoma. Coeliac disease was also ruled out, both on laboratory investigations and on intestinal biopsy. CONCLUSIONS: The cases described coincide with the Sturge-Weber syndrome in all having cerebral leptomeningeal angiomas. This differentiated them from the Gobbi syndrome which does not include meningeal angiomata. Another characteristic of the Sturge-Weber syndrome is the occurrence of epilepsy and mental deficiency. Whilst awaiting molecular genetic studies, our cases may be included semantically as a variant of the Sturge-Weber syndrome without the characteristic facial angioma, although they may possibly correspond to genetically different conditions.

Angiomatosis leptomeníngea occipital sin angioma facial. ¿Debe considerarse como variante del síndrome de Sturge-Weber? / Occipital leptomeningeal angiomatosis without facial angioma. Should it be considered to be a variant of the sturge-weber syndorme

Introducción. La asociación de angioma leptomeníngeo cerebral y nevus flameus facial en el territorio del la primera rama trigeminal ipsilateral al angioma se denomina síndrome de Sturge- Weber. Los casos con ausencia del angioma facial se incluyen habitualmente como una variedad del síndrome. Objetivo. Presentar cuatro casos con angioma leptomeníngeo occipital sin angioma facial y exponer las características que puedan diferenciarlo o incluirlo dentro del síndrome de SturgeWeber, así como establecer las diferencias con el síndrome de Gobbi (calcificaciones cerebrales occipitales, epilepsia y enfermedad celíaca). Casos clínicos. Se seleccionaron cuatro casos a los que se les realizó resonancia magnética craneal con administración de gadolinio intravenoso y en tres casos, estudio para descartar enfermedad celíaca. Las calcificaciones cerebrales, unilaterales en los cuatro casos, eran similares a las observadas en el síndrome de SturgeWeber. Todos los casos mostraban angioma leptomeníngeo a nivel de la calcificación cerebral evidenciado por la captación de contraste en la resonancia magnética. Tres casos presentaban epilepsia pero ninguno angioma facial, hemiparesia ni glaucoma. También se descartó enfermedad celíaca, tanto analíticamente como a través de biopsia intestinal. Conclusiones. Los casos descritos coinciden con el síndrome de SturgeWeber en la presencia común de angioma leptomeníngeo cerebral, hecho que los diferencia del síndrome de Gobbi que carece del angioma pial. Otra característica común con el síndrome de SturgeWeber es la presencia de epilepsia y déficit intelectual. En espera de estudios de genética molecular, nuestros casos pueden englobarse semánticamente como una variante del síndrome de SturgeWeber sin el característico angioma facial, aunque posiblemente correspondan a entidades genéticamente diferentes (AU)

Introduction. The association of cerebral leptomeningeal angioma and facial nevus flameus in the territory of the first branch of the trigeminal nerve ipsilateral to the angioma is known as the Sturge-Weber syndrome. The cases with absence of a facial angioma are usually considered to be variants of the syndrome. Objective. To present four cases with occipital leptomeningeal angioma without facial angioma and describe the characteristics which differentiate them from or permit their inclusion within the group of Sturge-Weber syndrome, and also to establish the differences between this and the Gobbi syndrome (occipital cerebral calcifications, epilepsy and coeliac disease. Clinical cases. We selected four cases in whom cranial magnetic resonance was done with intravenous gadolinium and three cases studied to rule out coeliac disease. The cerebral calcifications, unilateral in all four cases, were similar to those observed in the Sturge-Weber syndrome. All cases had leptomeningeal angiomas at the level of the cerebral calcification shown by the uptake of contrast material on magnetic resonance. Three patients had epilepsy but none had facial angiomas, hemiparesis or glaucoma. Coeliac disease was also ruled out, both on laboratory investigations and on intestinal biopsy. Conclusions. The cases described coincide with the Sturge-Weber syndrome in all having cerebral leptomeningeal angiomas. This differentiated them from the Gobbi syndrome which does not include meningeal angiomata. Another characteristic of the Sturge-Weber syndrome is the occurrence of epilepsy and mental deficiency. Whilst awaiting molecular genetic studies, our cases may be included semantically as a variant of the Sturge-Weber syndrome without the characteristic facial angioma, although they may possibly correspond to genetically different conditions (AU)

[A study of Gobbi's syndrome in Spanish population]. / Estudio del síndrome de Gobbi en la población española.

INTRODUCTION: The association of epilepsy, occipital cerebral calcifications and coeliac disease was recognized for the first time in 1992 by Gobbi as an independent syndrome. He emphasized that it occurred almost exclusively in persons of Italian origin. OBJECTIVE: To define the prevalence of this syndrome in the Spanish population with a view to confirming its probably genetic etiopathogenesis. PATIENTS AND METHODS: Neurological studies were done in 44 coeliac patients, as were cranial CT scans. All cases of Spanish origin described in the literature were noted. RESULTS: In the patients with coeliac disease there was an increased incidence of crises and generalized epilepsy, but no patient was found to have occipital calcifications. Only 12 cases of Spanish origin were found, mainly in the Canary Isles and Mediterranean littoral, in spite of the high incidence of coeliac disease in Spain. No familial cases were seen. CONCLUSIONS: We suspect a genetic etiopathogenesis, associated with different environmental factors, to be the origin of the syndrome. This is supported by the common geographical origin of most cases and the anatomopathological findings described in those cases studied.

[The value of images in diagnosis of neuron migration disorders]. / Valor de la imagen en el diagnóstico de los trastornos de la migración neuronal.

OBJECTIVE: To present the fitest classification and the imaging peculiarities of the malformations of cortical development, most of which have been related with the epilepsy origin. METHODS: The study is based on an anatomical-histological classification scheme that shows three great groups of malformations of cortical development: 1. Malformations due to abnormal neuronal and glial proliferation. 2. Malformations due to abnormal neuronal migration. 3. Malformations due to abnormal cortical organization. RESULTS: The result of these abnormalities of the cortical development is the presence of several anatomical histological entities, actually perfectly identified by the magnetic resonance (MR), especially with the new high resolution methods. The most frequent entities, such as polymicrogyria, lissencephaly, pachygyria, schizencephaly, cerebral heterotopia (cortical, subcortical or subependymal), and other rarer types are reviewed according with the numerous references of the literature and the findings observed in the cases of our series of about one hundred patients which includes cases of every type of malformation. CONCLUSION: MR is a conclusive study in order to identify and classify the malformations of cortical development, most of which are associated with neurological disturbances: epilepsy, mental retardation, language and/or behavioral problems or motor dysfunction.

[Brain stem encephalitis in childhood]. / Encefalitis de tronco cerebral en la infancia.

OBJECTIVE: To present two cases of post-infectious encephalitis of the brain stem (ETC) in infancy, which is very infrequent at this age. CLINICAL CASES: Two patients aged 4 months and 9 months respectively had a previous history of a catarrhal illness a few days before the onset of encephalitis. The clinical condition was of subacute onset and torpid course, characterized by ataxia, reduced level of consciousness, involvement of the pyramidal tracts and paralysis of the cranial nerves. No significant information for the diagnosis of either case was obtained from CT. MR showed lesions at the level of the pons. However, the MR image did not correspond in seventy to the clinical condition. The clinical courses of the two patients were different. One case recovered with no sequelae. In the other case the cranial nerves and gait did not return to normal. CONCLUSIONS: In our experience, ETC is rarely seen in infancy. A high degree of suspicion and early treatment of ETC caused by the herpes simplex virus is necessary, since there is usually a high mortality or serious neurological sequelae.

[Diagnosis in severe myoclonic epilepsy in childhood: study of 13 cases]. / Diagnóstico en la epilepsia mioclónica severa de la infancia: estudio de 13 casos.

OBJECTIVE: The purpose of this report is to describe clinical pattern, EEG, outcome and differential diagnosis in severe myoclonic epilepsy in infancy (SMEI). MATERIAL AND METHODS: We report 13 cases initially diagnosed of SMEI and selected according to the following criteria: first seizure between 1 and 12 months of life, frequent seizures resistant to antiepileptic drugs, no previous personal history of disease, normal psychomotor development before the first seizure and normal EEG, CT scanning and laboratory analyses at the beginning. CT and/or MRI were performed in 13 cases, arteriography in 2 patients, MR spectroscopic imaging in 1 child and SPECT in 3 cases. Quantification of enzymatic activities of the mitochondrial respiratory chain was made in 5 patients. RESULTS: Only 8 cases were finally diagnosed of SMEI according to ILAE definition. In two cases, seizures were finally controlled with antiepileptic treatment and EEG abnormalities disappeared. Three patients showed other findings: mesiotemporal sclerosis, angiitis diffusely involving CNS and mitochondrial cytopathy with deficiency of the complex IV. CONCLUSIONS: Although diagnosis of SMEI, based on clinical manifestations, is suspected in most cases from the first year of life, final diagnosis should not be confirmed until steady state, when polymorphous seizures occur. Even then, differential diagnosis should be made with other disorders. Perhaps, further studies should be performed in order to identify and eliminate another etiology.