Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital. There were 25 individuals in the case group and 41 in the control group. Analysis of genotypes for the methylenetetrahydrofolate reductase (MTHFR) 677CT polymorphism in women with or without risk factors for abnormal carbohydrate metabolism revealed that mothers who were homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism were more likely to have offspring with spina bifida and high levels of homocysteine, compared to the control group. The increased incidence of NTDs in mothers homozygous for the MTHFR 677TT polymorphism and at risk of abnormal carbohydrate metabolism stresses the need for careful metabolic screening in pregnant women, and, if necessary, determination of the MTHFR 677CT genotype in those mothers at risk of developing abnormal carbohydrate metabolism.

El pediatra ante los problemas sociales / The paediatrician and social problems

En la primera década del siglo XXI asistimos a vertiginosos avances científicos, tecnológicos y sociales. Nuevas realidades sociológicas hacen valer los derechos de la infancia, de la familia, del género y reclaman afrontar las desigualdades bajo criterios de equidad en un contexto multicultural. Es momento de potenciar la visión integral de la infancia, de poner el fonendoscopio en el menor y en la familia, de valorar la complejidad de hechos como el maltrato desde sus múltiples aristas, de acortar distancia con los pacientes aumentando nuestra competencia cultural y de reflexionar críticamente sobre la medicalización de la vida como síntoma social, y sus posibles consecuencias para los niños (AU)

We have witnessed dramatic scientific, technological and social advances in the first decade of the XXI century. New sociological realities have enforced the rights of children, the family and gender and inequalities need to be faced under the criteria of equality in a multicultural context. It is a time to boost the overall view of childhood, to put the phonendoscope on the minor and the family, to assess the complexity of facts, such as abuse from its many facets, to shorten the distance between patients, increasing our cultural competence and to critically reflect on medicalising life as a social symptom and their possible consequences for children (AU)

[The paediatrician and social problems]. / El pediatra ante los problemas sociales.

We have witnessed dramatic scientific, technological and social advances in the first decade of the XXI century. New sociological realities have enforced the rights of children, the family and gender and inequalities need to be faced under the criteria of equality in a multicultural context. It is a time to boost the overall view of childhood, to put the phonendoscope on the minor and the family, to assess the complexity of facts, such as abuse from its many facets, to shorten the distance between patients, increasing our cultural competence and to critically reflect on medicalising life as a social symptom and their possible consequences for children.

[Munchausen syndrome by proxy]. / Síndrome de Munchausen por poderes.

Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literature.

Síndrome de Munchausen por poderes / Munchausen syndrome by proxy

El síndrome de Munchausen por poderes (SMP) constituye una patología de difícil diagnóstico, causante de gran morbimortalidad. El conocimiento de las características generales tanto de la víctima como del perpetrador del mismo puede ser de gran ayuda para el reconocimiento precoz de este cuadro. Recientemente, la American Professional Society on the Abuse of Children ha desarrollado una actualización terminológica del síndrome. Abordamos dicha actualización y presentamos seis casos diagnosticados en nuestro hospital analizando las características generales de la víctima y del perpetrador y las comparamos con las de la literatura médica (AU)

Munchausen syndrome by proxy is an illness which is very difficult to diagnose. It has a high morbidity and mortality rate. The knowledge of the characteristics of the victim and the perpetrator can be quite useful for its early recognition. The American Professional Society on the Abuse of Children, has recently brought the terms for the syndrome up to date. We look at this updating and present six cases diagnosed in our hospital, analysing their main features and comparing them with the medical literatura (AU)

First report of a patient with a mixoploidy 47,XXX/94,XXXXXX.

We present a 16 years old female with a chromosomal mixoploidy and multiple phenotypic anomalies. Peripheral blood G-band karyotype was 47,XXX and her skin fibroblast karyotype revealed a mosaic with a 47,XXX cell line in 88% of metaphases and a 94,XXXXXX cell line in 12% of metaphases, consistent with a hypertetraploidy. The most prominent clinical signs were: short stature, left upper limb asymmetry, senile-like appearance, generalized hypertrichosis, and small hands and feet. Radiological examination showed bone dysplasia. The result of molecular studies demonstrated that the patient inherited the two X chromosomes from the mother and one from the father, indicating that her 47,XXX trisomy resulted from an oogenesis error in the first meiotic division. The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy.

Diagnóstico por la imagen de los malos tratos infantiles / Imaging diagnosis of non-accidental injury in children

El papel de la imagen en los casos de sospecha de malos tratos no es solo identificar el grado de lesiones físicas, sino también valorar todos los hallazgos de imagen que apunten hacia diagnósticos alternativos. Se hace preciso pruebas clarificadoras que nos lleve a un diagnóstico seguro y evite por un lado errores diagnósticos y por otro mantener una situación de riesgo de nuevos episodios de maltrato de consecuencias impredecibles. La actual oferta tecnológica del diagnóstico por imagen, exige al clínico que se enfrenta a un diagnóstico de sospecha de maltrato físico, conocer cuales son las lesiones más especificas de confirmación diagnóstica, así como cual es la técnica/as más indicada de acuerdo a la clínica y edad del paciente. Revisamos las recomendaciones actuales partiendo de nuestra experiencia

The image technology develops an important role in cases of abuse suspicion not only establishing the degree of physical harm, but also finding evidences that lead to different diagnosis. These verified evidences are required both to reach a certain diagnosis and to avoid mistakes which can perpetuate a risk situation and the arrival of new episodes of abuse with unpredictable consequences. The present situation in the image technology diagnosis demands from the physician the identification of the most specific lesions to confirm a suspicion of abuse as well as the most suitable technology according to the symptoms and age of the patient. We review the current recommendations from our experience

Síndrome de Munchausen por poderes / Munchausen Syndrome by proxy

El Síndrome de Munchausen por poderes (SMP) constituye una particular forma de maltrato infantil cuya gravedad radica en su elevada morbimortalidad, difícil diagnóstico y posterior manejo. En los últimos años se han producido modificaciones terminológicas para designar este raro trastorno, con frecuencia infradiagnosticado. Aportamos la experiencia de 6 casos de SMP diagnosticados en los últimos ocho años. En todos ellos el agente causal fue la madre, generalmente de bajo nivel socioeconómico, con desestructuración importante del núcleo familiar y hasta en el 50% de los casos con alteraciones en la personalidad. La edad media de la víctima fue de 8,4 años, habiendo transcurrido hasta el momento del diagnóstico un tiempo medio de 34 meses con más de 20 consultas médicas realizadas durante el mismo. Aunque no ha sido nuestro caso, está descrita una elevada probabilidad de presentar secuelas a largo plazo e incluso muerte. Proponemos el abordaje de toda sospecha de SMP por un Equipo Interdisciplinario. Entre las medidas a tomar por este equipo destaca el diseño de una puerta de entrada hospitalaria alternativa al servicio de Urgencias, decidir el momento de confrontación con la familia, medidas legales a tomar y elaboración de un plan de seguimiento-intervención

Munchausen Syndrome by proxy (MSP) is a particular form of child abuse whose seriousness results from its high rate of morbidity and mortality, difficult diagnosis and posterior management. In last years different terminological approaches have been made to designate it.. During the last eight years we have diagnosed 6 cases of MSP. In all of them the casual agent was the mother, presenting an important deterioration in her family and nearly 50% of cases with alterations in the personality. Victim´s medium age was 8,4 years, with a period of 34 months until the diagnosis was confirmed and more than 20 medical consultations during that time. Although it is not our experience, it has been reported a high rate of presenting long term consequences in child development, even death. We propose to establish an Interdisciplinary Team. Some points that must be dealt with by the team are to establish an alternative "entrance door" to the hospital other than that of the emergency services, decide the moment of confronting the family, taking legal measures and creating a long term intervention-monitoring plan

Fascitis necrosante y varicela ¿una asociación potenciada por el ibuprofeno? / Necrotizing fasciitis and varicella: an association increased by ibuprofen?

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[The psychoneurological status of newborn infants with congenital heart disease before surgical intervention]. / Estado psiconeurológico de los recién nacidos afectados de cardiopatía congénita antes de su intervención.

AIMS: This study was conducted to evaluate, from a psychological and neurological point of view, the situation of newborn infants (NI) suffering from congenital heart disease before they are treated surgically. At the same time, we aimed to compare this group of patients with another group of children who were considered to be healthy. PATIENTS AND METHODS: Patients psychological development was evaluated using developmental landmarks from the Observational Scale of Development (OSD), which provides a percentage of elements acquired in different areas. Behaviour was evaluated by the observational recording of particular patterns of behaviour. The neurological study was based on a detailed neonatal examination, performed by people from the Child Neurology Section at our hospital, and which took into account the different behaviours displayed by the NI: reactive, grasping, communicative and affective. RESULTS: Findings show significant differences both in the psychological and neurological variables studied. They show how, generally speaking, healthy infants score higher in the areas of development that were evaluated than children suffering from heart disease. Likewise, lower average scores were observed in heart disease patients who require an early intervention, as compared with those who will be submitted to surgery later on. From the neurological point of view, a number of significant differences were found in their muscular activity. CONCLUSIONS: This analysis, a groundbreaker in the study of infants suffering from heart disease before their surgical intervention, shows how newborn infants who have been submitted to surgery in the neonatal period present a significant degree of hypotonia, a certain frailness and retardation in their motor development.

Estado psiconeurológico de los recién nacidos afectados de cardiopatía congénita antes de su intervención / The psychoneurological status of newborn infants with congenital heart disease before surgical intervention

Objetivo. Este estudio se llevó a cabo para evaluar, desde un punto de vista psicológico y neurológico, la situación de los recién nacidos que padecen una cardiopatía congénita, antes de tratarse quirúrgicamente, y, a su vez, comparar este grupo de pacientes con otro grupo de niños considerados sanos. Pacientes y métodos. El desarrollo psicológico se evaluó mediante hitos evolutivos procedentes de la escala observacional del desarrollo, la cual proporciona un porcentaje de elementos adquiridos en diversas áreas. El comportamiento se evalúa mediante el registro observacional de determinados patrones de conducta. El estudio neurológico se basó en un detallado examen neurológico neonatal, realizado por personas adscritas a la Sección de Neurología Infantil de nuestro hospital, en el que se tuvieron en cuenta las distintas conductas del recién nacido: reactiva, prensora, comunicativa y afectiva. Resultados. Los resultados muestran diferencias significativas, tanto en las variables psicológicas estudiadas como en las neurológicas. Muestran que, en general, los niños sanos obtienen puntuaciones más altas en las áreas de desarrollo evaluadas que los niños afectados de cardiopatías. Asimismo, se observan menores puntuaciones medias en los cardiópatas que deben intervenirse precozmente, que en los que se intervendrán con posterioridad. Desde el punto de vista neurológico, se encontraron unas diferencias significativas en la actividad muscular. Conclusiones. El presente análisis, pionero en el estudio de los niños cardiópatas antes de su intervención, demuestra que los neonatos que se han intervenido en el período neonatal ya presentaban, de forma significativa, hipotonía, cierta fragilidad y retraso en el desarrollo motor (AU)

Aims. This study was conducted to evaluate, from a psychological and neurological point of view, the situation of newborn infants (NI) suffering from congenital heart disease before they are treated surgically. At the same time, we aimed to compare this group of patients with another group of children who were considered to be healthy. Patients and methods. Patients’ psychological development was evaluated using developmental landmarks from the Observational Scale of Development (OSD), which provides a percentage of elements acquired in different areas. Behaviour was evaluated by the observational recording of particular patterns of behaviour. The neurological study was based on a detailed neonatal examination, performed by people from the Child Neurology Section at our hospital, and which took into account the different behaviours displayed by the NI: reactive, grasping, communicative and affective. Results. Findings show significant differences both in the psychological and neurological variables studied. They show how, generally speaking, healthy infants score higher in the areas of development that were evaluated than children suffering from heart disease. Likewise, lower average scores were observed in heart disease patients who require an early intervention, as compared with those who will be submitted to surgery later on. From the neurological point of view, a number of significant differences were found in their muscular activity. Conclusions. This analysis, a groundbreaker in the study of infants suffering from heart disease before their surgical intervention, shows how newborn infants who have been submitted to surgery in the neonatal period present a significant degree of hypotonia, a certain frailness and retardation in their motor development (AU)

Clinical variability of type II sialidosis by C808T mutation.

Sialidosis (McKusick 256550) is an autosomal recessive disorder resulting from mutations in the NEU gene, located in 6p21.3, which leads to deficiency of alpha-N-acetyl neuraminidase (sialidase) activity, causing an accumulation of its substrates, oligosaccharides, in the lysosomes of various organs and tissues and an increased presence in urine and other organic fluids. We present a clinical report of three patients diagnosed for type II sialidosis. The first patient is a 12-year-old boy with the classic infantile form. His sister had a congenital form of sialidosis and died at 20 months of age. The third, nonrelated patient presented shortly after 1 year of age and had borderline cognitive delay at 9 years. All three patients were homozygous for the C808T mutation of the NEU gene. Their ancestors originated from a small area to the east of the city of Seville (Spain), suggesting the existence of a Seville founder mutation.

Aspectos psicológicos de las nuevas tecnologías de la información / Psychological features of the new information technologies

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A second family with Micro syndrome.

We present the cases of two sisters, daughters of healthy, non-consanguineous parents, who have a clinical syndrome characterized by microcephaly, cortical dysplasia, ventriculomegaly, hypoplasia of the corpus callosum, hypogenesis of the cerebellar vermis, cataracts, microphthalmia, optic nerve atrophy, retinal coloboma, weight and height below 3rd centile, severe mental retardation, no speech, inability to sit, no sphincter control and a spastic tetraparesis. The facies are mildly dysmorphic, but not distinctive. No metabolic, nor chromosomal anomalies were found. The cases are very similar to, but not identical, to those described by Warburg et al [Am J Med Genet (1993) 147:1309-1312] as Micro syndrome.

[Recurrent ingestion of foreign bodies. Unusual presentation of Munchausen by Proxy syndrome]. / Ingestión reiterada de cuerpos extraños. Forma inusual de presentación del síndrome de Munchausen por poderes.

A case with unusual presentation of Munchausen syndrome by proxy is reported. It was shown through reiterated ingestion of foreign bodies (two earrings, probably a button but not confirmed, a 5 cm. screw and two sewing needles) perpetrated by a 22-year-old mother with a psychiatric record of behavior disorders and family dysfunctions on a 10-month-old infant with a history of prematurity, repeated visits to emergency rooms, and nonjustified multiple hospital admissions. The difficulties in the diagnosis and the need for an early detection are brought up, making considerations in regard to indicators, diagnostic criteria, and management procedure.