[Natural course of septo-optic dysplasia: retrospective analysis of 20 cases]. / Evolucion natural de la displasia septooptica: analisis retrospectivo de 20 casos.

INTRODUCTION: Septo-optic dysplasia (SOD) is the variable combination of signs of dysgenesis of the midline of the brain, hypoplasia of the optic nerves and hypothalamus-pituitary dysfunction, which is sometimes associated with a varied spectrum of malformations of the cerebral cortex. AIMS: To describe the natural history and neuroimaging findings in a series of 20 diagnosed patients. PATIENTS AND METHODS: We review the epidemiological, clinical and neuroimaging characteristics of 20 consecutive patients diagnosed with SOD between January 1985 and January 2010. Data obtained from computerised tomography, magnetic resonance imaging of the head, electroencephalogram, visual evoked potentials, ophthalmological evaluation, karyotyping and endocrinological studies were analysed. In seven patients, a study of the gene Homeobox HESX1 was conducted. RESULTS: Pathological antecedents in the first three months of gestation were presented by 60% of the cases, with normal results in the foetal ultrasound scans. Clinically, the most striking features were visual manifestations (85%), endocrine disorders (50%), mental retardation (60%) and epileptic seizures (55%). Fifty-five per cent were associated to abnormal neuronal migration. In 45%, SOD was the only finding in the neuroimaging scans. Karyotyping was performed in all cases, the results being normal. Gene HESX1 was positive in two of the seven cases studied (both with isolated SOD). None of those with mutation in gene HESX1 presented familial consanguinity. No gene study was conducted with the parents. CONCLUSIONS: SOD must be classified as a heterogeneous malformation syndrome, which is associated to multiple brain, ocular, endocrine and systemic anomalies. The most severe forms are associated with abnormal neuronal migration and cortical organisation.

Evolución natural de la displasia septoóptica: análisis retrospectivo de 20 casos / Natural course of septo-optic dysplasia: retrospective analysis of 20 cases

Introducción. La displasia septoóptica (DSO) es la combinación variable de signos de disgenesia de línea media cerebral, hipoplasia de nervios ópticos y disfunción hipotálamo-hipofisaria, asociándose, a veces, con un espectro variado de malformaciones de la corteza cerebral. Objetivo. Describir la evolución natural y los hallazgos de neuroimagen en una serie de 20 pacientes diagnosticados. Pacientes y métodos. Se revisan de forma retrospectiva las características epidemiológicas, clínicas y neurroradiológicas de 20 pacientes consecutivos diagnosticados de DSO entre enero de 1985 y enero de 2010. Se analizaron los datos de tomografía computarizada, resonancia magnética craneal, electroencefalograma, potenciales evocados visuales, valoración oftalmológica, cariotipo y estudio endocrinológico. En siete pacientes, se realizó estudio del gen Homeobox HESX1. Resultados. El 60% de los casos presentaba antecedentes patológicos en el primer trimestre de gestación, con las ecografías fetales normales. Clínicamente, destacaban manifestaciones visuales (85%), alteraciones endocrinas (50%), retraso mental (60%) y crisis epilépticas (55%). Un 55% se asociaba a anomalías de migración neuronal. En un 45%, la DSO era el único hallazgo de neuroimagen. Se realizó cariotipo a todos, siendo normal. El gen HESX1 fue positivo en dos de los siete casos estudiados (ambos con DSO aislada). Ninguno con mutación en el gen HESX1 presentaba consanguinidad familiar. No se realizó estudio genético a los padres. Conclusiones. La DSO debe clasificarse como un síndrome malformativo heterogéneo, que asocia múltiples anomalías cerebrales, oculares, endocrinas y sistémicas. Las formas más graves se asocian con anomalías de la migración neuronal y de la organización cortical (AU)

Introduction. Septo-optic dysplasia (SOD) is the variable combination of signs of dysgenesis of the midline of the brain, hypoplasia of the optic nerves and hypothalamus-pituitary dysfunction, which is sometimes associated with a varied spectrum of malformations of the cerebral cortex. Aims. To describe the natural history and neuroimaging findings in a series of 20 diagnosed patients. Patients and methods. We review the epidemiological, clinical and neuroimaging characteristics of 20 consecutive patients diagnosed with SOD between January 1985 and January 2010. Data obtained from computerised tomography, magnetic resonance imaging of the head, electroencephalogram, visual evoked potentials, ophthalmological evaluation, karyotyping and endocrinological studies were analysed. In seven patients, a study of the gene Homeobox HESX1 was conducted. Results. Pathological antecedents in the first three months of gestation were presented by 60% of the cases, with normal results in the foetal ultrasound scans. Clinically, the most striking features were visual manifestations (85%), endocrine disorders (50%), mental retardation (60%) and epileptic seizures (55%). Fifty-five per cent were associated to abnormal neuronal migration. In 45%, SOD was the only finding in the neuroimaging scans. Karyotyping was performed in all cases, the results being normal. Gene HESX1 was positive in two of the seven cases studied (both with isolated SOD). None of those with mutation in gene HESX1 presented familial consanguinity. No gene study was conducted with the parents. Conclusions. SOD must be classified as a heterogeneous malformation syndrome, which is associated to multiple brain, ocular, endocrine and systemic anomalies. The most severe forms are associated with abnormal neuronal migration and cortical organisation (AU)

Incidencia de diabetes mellitus tipo 1 en niños: resultados del registro poblacional de la Comunidad de Madrid, 1997–2005 / Incidence of type 1 diabetes mellitus in children: results from the population registry of the Madrid Region, 1997–2005

Fundamento y objetivo: La incidencia de diabetes mellitus (DM) tipo 1 presenta variaciones importantes en el ámbito mundial, tanto entre países europeos como entre regiones dentro de un mismo país. El objetivo de este estudio ha sido caracterizar los datos básicos de la incidencia y describir la epidemiología de la presentación de la DM tipo 1 en la Comunidad de Madrid. Material y método: Se incluyeron 1.130 casos nuevos de DM en menores de 14 años que fueron notificados al registro de DM desde enero de 1997 a diciembre de 2005. La exhaustividad del registro se evaluó a través del método de captura-recaptura. La comparación de incidencia entre diferentes grupos, así como la tendencia de la incidencia, se analizó mediante modelos de regresión de Poisson. Resultados: La tasa de incidencia en el período estudiado es de 15,9/100.000 personas-año (intervalo de confianza del 95%, 15,0–16,8). La exhaustividad es del 82%. La incidencia es de 12,1; 18,2, y 17,4 por 100.000 personas-año en los niños de 0–4; 5–9, y 10–14 años, respectivamente. La incidencia se ha mantenido estable en el período estudiado. El riesgo por edad presenta diferencias por sexo. Además, se observa una variación estacional, con mayor incidencia en los meses fríos. Conclusiones: La tasa de incidencia de DM tipo 1 se sitúa en un lugar intermedio respecto a las estimadas más recientemente en otras regiones españolas, y en el ámbito mundial la Comunidad de Madrid se sitúa entre los países con incidencia moderadamente alta. La incidencia en el período 1997–2005 se ha mantenido estable. En cuanto a la variación estacional, hay una mayor incidencia en los meses fríos (AU)

Background and objective: Incidence of type 1 diabetes mellitus (DM) varies importantly worldwide, including European countries, and even among regions within a country. The aim of this study is to describe the incidence of type 1 DM in the Madrid Region. Material and method: We included 1130 new cases of type 1 DM in children below 15 years of age, which were notified to the diabetes registry from January, 1997 to December, 2005. Case ascertainment was evaluated through the capture-recapture method. The data was analysed using Poisson regression models. Results: The incidence rate in this period was 15.9/100,000 persons-years (95% confidence interval, 15.0–16.8). Completeness of ascertainment was 82%. The incidence by age group was 12.1 (0–4 years), 18.2 (5–9 years) and 17.4 by 100,000 persons-years (10–14 years). The incidence data showed no significant changes in the studied period. We observed a seasonal variation in the incidence, with the greatest incidence in the cold months. Conclusions: The estimated incidence of type 1 DM ranks in an intermediate position with regard to that estimated more recently in other Spanish regions. During the period 1997-2005, the incidence has maintained stable in the Madrid Region (AU)

[Incidence of type 1 diabetes mellitus in children: results from the population registry of the Madrid Region, 1997-2005]. / Incidencia de diabetes mellitus tipo 1 en niños: resultados del registro poblacional de la Comunidad de Madrid, 1997-2005.

BACKGROUND AND OBJECTIVE: Incidence of type 1 diabetes mellitus (DM) varies importantly worldwide, including European countries, and even among regions within a country. The aim of this study is to describe the incidence of type 1 DM in the Madrid Region. MATERIAL AND METHOD: We included 1130 new cases of type 1 DM in children below 15 years of age, which were notified to the diabetes registry from January, 1997 to December, 2005. Case ascertainment was evaluated through the capture-recapture method. The data was analysed using Poisson regression models. RESULTS: The incidence rate in this period was 15.9/100,000 persons-years (95% confidence interval, 15.0-16.8). Completeness of ascertainment was 82%. The incidence by age group was 12.1 (0-4 years), 18.2 (5-9 years) and 17.4 by 100,000 persons-years (10-14 years). The incidence data showed no significant changes in the studied period. We observed a seasonal variation in the incidence, with the greatest incidence in the cold months. CONCLUSIONS: The estimated incidence of type 1 DM ranks in an intermediate position with regard to that estimated more recently in other Spanish regions. During the period 1997-2005, the incidence has maintained stable in the Madrid Region.

[Diabetes mellitus in children: a heterogeneous disease]. / Diabetes mellitus en la infancia: una enfermedad heterogénea.

Diabetes is one of the most common chronic diseases of childhood and adolescence. Type 1, or autoimmune diabetes accounts for more than 95% of cases. Nevertheless, over the past years it has become apparent that not all cases of diabetes presenting in children are autoimmune type 1. In these cases, the diagnosis is facilitated by the fact that many rare etiologies of diabetes are associated with specific clinical syndromes or a characteristic age of onset. In addition, molecular diagnosis is becoming increasingly available for several of these disorders. This review aims to provide the general physician with some important clues to make an accurate diagnosis in these patients and understand its implication in clinical management.

Diabetes mellitus en la infancia: una enfermedad heterogénea / Diabetes mellitus in children: a heterogeneous disease

La diabetes mellitus es una de las enfermedades crónicas más frecuentes en la infancia y la adolescencia. Más del 95% de los casos corresponden a diabetes tipo 1. Sin embargo, debido a los avances de los últimos años, un número cada vez mayor de pacientes son incluidos en otros subgrupos. En esos casos, el diagnóstico correcto se ve facilitado por el hecho de que muchas de estas causas raras de diabetes se asocian con síndromes clínicos específicos o se manifiestan a una edad determinada. Además, muchas de ellas son subsidiarias de diagnóstico molecular. El objetivo de esta revisión es analizar la información disponible con objeto de facilitar la consecución de un diagnóstico preciso y entender sus implicaciones sobre el tratamiento y el pronóstico de dichos pacientes

Diabetes is one of the most common chronic diseases of childhood and adolescence. Type 1, or autoimmune diabetes accounts for more than 95% of cases. Nevertheless, over the past years it has become apparent that not all cases of diabetes presenting in children are autoimmune type 1. In these cases, the diagnosis is facilitated by the fact that many rare etiologies of diabetes are associated with specific cinical syndromes or a characteristic age of onset. In addition, molecular diagnosis is becoming increasingly available for several of these disorders. This review aims to provide the general physician with some important clues to make an accurate diagnosis in these patients and understand its implication in clinical management