Adrenoleucodistrofia ligada al cromosoma X: diagnóstico olvidado en niños con enfermedad de Addison idiopática / X- linked Adrenoleukodystrophy: misdiagnosed disease in children with idiopathic Addison´s disease

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[An association between moya-moya disease and morning glory anomaly]. / Asociación entre enfermedad de moya moya y anomalía de morning glory.

INTRODUCTION: The morning glory disc anomaly is a not very frequent congenital alteration of the optic papilla associated with a retinal vascular dysgenesia. Several cases of association have been described between this disc anomaly and the presence of Moyamoya vessels. We report the case of a boy with this association. CASE REPORT: A 5 year-old boy was evaluated for several episodes of disconnection, some of them preceded by intense headaches and associated to incoherent language, and in other occasions with hypotonia and unmotivated laugh of variable duration. The physical and neurological exploration was normal, except for the optic disc papilla of the right eye that was very big and dug, compatible with Morning glory disc anomaly. No alterations were found at cranial CT and EEG. In the magnetic resonance imaging were visualized multiple small round low intensity areas in the basal ganglia, because of the high number of collateral vessels. The angioRM showed stenosis of the supraclinoid portions of both internal carotids as well as the proximal segments of the anterior cerebral artery and the left middle cerebral artery with abnormal network of collateral vessels at the base of the brain like a puff of smoke . This is a typical imaging for Moyamoya disease. CONCLUSIONS: In all patient with Morning glory disc anomaly, mainly if they presents neurological clinical features, the realization of angioRM studies will be evaluated, to discard the existence of Moyamoya disease.

Escorbuto asociado a enfermedad celíaca / Scurvy associated with celiac disease

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[Long term remission of epilepsy in childhood: a prospective study]. / Remisión a largo plazo de la epilepsia en la infancia: estudio prospectivo.

INTRODUCTION: To study the chance of achieving a long term remission of epilepsy in children. PATIENTS AND METHODS: 90 children aged under 14 years newly diagnosed of epilepsy were started on anticonvulsant treatment and prospectively followed. Initial remission was defined as a seizure free period with or without subsequent recurrences, terminal remission as a seizure free period without subsequent recurrences and terminal remission off treatment as terminal remission plus medication discontinued. RESULTS: The Kaplan Meier estimate of the probability of achieving a 3 year initial remission was 80% and 90%, of the probability of achieving a 5 year terminal remission was 59% and 68% and of the probability of achieving a 5 year terminal remission off treatment was 53% and 61% at 5 and 7 years, respectively. Univariate and multivariate analyses using the Cox proportionate hazards model revealed there was a greater probability of achieving a 3 year terminal remission off treatment for patients with idiopathic/cryptogenic etiology and for those who did not have recurrences during the first six months of treatment. Syndromic diagnosis at six months after initiating antiepileptic treatment was also useful for predicting the probability of remission. CONCLUSIONS: Over half of the epileptic children achieve a prolonged remission off treatment. The main prognostic factors are etiology, recurrence of seizures during the first six months and syndromic diagnosis.

Remisión de la epilepsia tras el comienzo del tratamiento:estudio prospectivo en la infancia / Remission of epilepsy after onset of antiepileptic treatment: a prospective study in childhood

Objetivo. Estudiar la probabilidad de lograr el control inicial de las crisis epilépticas tras el comienzo del tratamiento en la epilepsia infantil. Pacientes y métodos. Se siguió prospectivamente a 106 niños menores de 14 años recientemente diagnosticados de epilepsia que iniciaron un tratamiento antiepiléptico. Resultados. El cumplimiento terapéutico, verificado mediante la determinación de niveles de medicación, fue satisfactorio. La probabilidad de alcanzar una remisión inicial de dos años estimada mediante curvas de Kaplan-Meier fue del 55 por ciento, 71 por ciento, 77 por ciento, 86 por ciento y 96 por ciento a los 2, 2 y medio, 3, 4 y 5 años. El análisis multivariante mediante el modelo de riesgos proporcionales de Cox mostró que una etiología sintomática, un EEG anormal y la recurrencia de las crisis en los primeros seis meses de tratamiento disminuyeron la probabilidad de alcanzar una remisión inicial de dos años, mientras que la presencia de crisis tonicoclónicas generalizadas o parciales secundariamente generalizadas exclusivamente y una edad entre 3 y 10 años la aumentaron. La selección por pasos mostró que el mejor modelo para la predicción de la remisión fue el constituido por edad entre 3 y 10 años y recurrencia en los primeros seis meses de tratamiento. No se pudieron demostrar diferencias significativas entre los diferentes síndromes epilépticos. Conclusiones. La mayoría de los niños con epilepsia entran en remisión después del inicio del tratamiento antiepiléptico. Aquellos sin recurrencias en los primeros seis meses o con una edad entre 3 y 10 años tienen un pronóstico particularmente favorable (AU)

[Remission of epilepsy after onset of antiepileptic treatment: a prospective study in childhood]. / Remisión de la epilepsia tras el comienzo del tratamiento: estudio prospectivo en la infancia.

OBJECTIVE: To investigate the probability of achieving control of seizures after initiating treatment in childhood epilepsy. PATIENTS AND METHODS: 106 children aged under 14 years newly diagnosed of epilepsy were started on antiepileptic treatment and prospectively followed. RESULTS: Antiepileptic drug levels were monitored and compliance was satisfactory. The Kaplan Meier estimate of the probability of achieving a 2 year initial remission was 55%, 71%, 77%, 86% and 96% at 2, 2.5, 3, 4 and 5 years, respectively. Multivariate analysis using the Cox proportionate hazards model showed that a symptomatic etiology, an abnormal EEG and recurrence of seizures during the first six months of treatment reduced the probability of achieving a 2 year initial remission, while the presence of generalized tonic clonic seizures or partial secondarily generalized seizures exclusively and a patient age of 3 10 years increased it. Stepwise selection of the variables showed that the best model for prediction of remission was that composed of age 3 10 years and recurrence during the first six months of treatment. Differences among epileptic syndromes couldn t be demonstrated. CONCLUSIONS: Most children with epilepsy achieved a remission after initiating antiepileptic treatment. Those 3 10 years old or without recurrences during the first six months have a particularly favorable outcome.

Seizure recurrence after a first unprovoked seizure in childhood: a prospective study.

PURPOSE: To study the risk of recurrence after a first unprovoked seizure in childhood. METHODS: All consecutive patients aged less than 14 years with one or more unprovoked seizures who were attended between January 1, 1987, and June 1, 1996, were included in a prospective study. Clinical features of patients attended after a first seizure and those attended after two or more seizures were compared. Recurrence risk in both groups was estimated by Kaplan-Meier curves. Univariate and multivariate analyses of the potential predictors of recurrence risk were performed for the group of patients attended after a first seizure using the Cox proportional hazards model. RESULTS: Included in the study were 217 children. Kaplan-Meier estimate of recurrence risk was 64% at 5 years, when only patients being attended after a first epileptic seizure were included, compared with 74% when all patients were included. Significant differences in several clinical features were found between patients attended after a first seizure and those attended after two or more seizures. Univariate and multivariate analyses showed that in the overall cohort of patients attended after a first seizure, a symptomatic etiology increased the risk of recurrence, whereas a patient age of 3 to 10 years decreased this risk. In particular, the recurrence risk was 96% at 2 years for symptomatic seizures, compared with 46% for idiopathic/cryptogenic seizures. In the group of patients with idiopathic/cryptogenic seizures, an abnormal electroencephalogram and the occurrence of seizures during sleep increased the recurrence risk, whereas a patient aged 3 to 10 years reduced it. In the group of patients with symptomatic etiology, univariate analysis revealed that there was a lower recurrence risk for patients aged 3 to 10 years. This last finding was not maintained, however, in multivariate analysis. CONCLUSIONS: The recurrence risk depends on the inclusion criteria for enrolling patients. Several factors enable us to predict the recurrence risk after a first unprovoked seizure; the most important of these factors is the etiology of the seizures.

[Epidemiology of epilepsy in pediatric age: types of epileptic crises and epileptic syndromes]. / Epidemiología de la epilepsia en la edad pediátrica: tipos de crisis epilépticas y síndromes epilépticos.

OBJECTIVES: 1. To study the epidemiological characteristics and types of epileptic seizures in infancy. 2. To evaluate our experience with the ILAE classification of epilepsies and epileptic syndromes and to study the relative frequency of the different epileptic syndromes. PATIENTS AND METHODS: All patients under 14 years of age that were evaluated for one or more unprovoked seizures in a primary care hospital between January 1, 1988 and June 1, 1994 were prospectively included in the study. In the 151 patients that met these criteria, we studied the epidemiological characteristics, predominantly the type of seizure and the classification as to type of epileptic syndrome. RESULTS: 1. ETIOLOGY: Of all of the seizures, 18% were considered symptomatic with a predominance in the first three years of life (34%), 28% were idiopathic with the predominance of cases occurring over three years of age (34%) and 54% cryptogenic, with an even distribution in all age groups. 2. Epileptic seizure type: Patients under 3 years old had 17% generalized epilepsies, 20% localization-related, 31% undetermined and 31% isolated seizures. In the 4-9 year olds, had 12%, 51%, 4%, and 32%, respectively. Between 4-14 years of age, benign rolandic epilepsy accounted for 17% of the epilepsies. Sixty-two percent of the patients remained classified in nonspecific categories (26% isolated seizures, 16% undetermined and 20% cryptogenic localization-related). CONCLUSIONS: The study of unprovoked seizures in children shows marked differences in the different age groups in respect to epileptic seizure type, etiology and epileptic syndrome classification. The application of the ILAE classification system leaves the majority of patients in non-specific categories.

[A score for the differential diagnosis of bacterial and viral meningitis]. / Score para el diagnóstico diferencial entre meningitis bacteriana y viral.

The purpose of this study was to verify the statistical validity of the score proposed by Thomé et al. for the differential diagnosis between bacterial and viral meningitis and to study the utility of two new parameters (CRP and the patient's age). A retrospective review of 136 consecutive cases of meningitis was made. The cases were classified into three groups according to the culture results and the use or not of intravenous antibiotics. There were 20 cases of bacterial meningitis, 60 non-bacterial and 56 cases of meningitis of uncertain etiology. Considering only the patients in the first two groups, the capacity for differential diagnosis between bacterial and non-bacterial meningitis of the 8 parameters in the original score, the CRP and the patient's age was analyzed with a numeric value of 0, 1, or 2 assigned to each parameter. Finally, the results of applying the score that includes the two new parameters with the original score are compared. We found that all parameters showed statistical significance for the differential diagnosis between bacterial and viral meningitis. The resulting score can be used in order to decide the need for intravenous antibiotic therapy, with only a few cases being uncertain. The score with the two new parameters correctly classified 78 of the 80 cases, while leaving only two case uncertain as compared to the four that remained unclassified with the original score. We conclude that the score is a useful instrument in the differential diagnosis between bacterial and viral meningitis. Furthermore, the introduction of CRP and the patient's age improves the diagnostic value of the test.