Síndrome de Williams-Beuren. La importancia del diagnóstico precoz y el manejo multidisciplinario. Revisión y presentación de 2 casos / Williams-Beuren syndrome. The importance of early diagnosis and multidisciplinary management. Review and report of 2 cases

El síndrome de Williams-Beuren (SWB) es una enfermedad rara, caracterizada por la presencia de cardiopatía, discapacidad intelectual, rasgos faciales característicos y alteraciones multiorgánicas. La base genética del síndrome es conocida y permite realizar un diagnóstico de certeza de forma precoz. El diagnóstico clínico de sospecha se lleva a cabo por la presencia de anomalías cardiacas características, como la estenosis aórtica supravalvular y/o la estenosis pulmonar, junto con discapacidad intelectual y/o facies peculiar. Los pacientes deben ser tratados de forma multidisciplinaria, dada la variedad de patologías asociadas y el impacto familiar que conlleva el diagnóstico precoz. Presentamos 2 casos de SWB diagnosticados durante el periodo de lactancia, con fenotipos y manifestaciones diferentes dentro del espectro clínico del síndrome (AU)

Williams-Beuren syndrome (WBS) is a rare disease characterized by heart disease, intellectual disability, characteristic facial features and systemic abnormalities. Its genetic background is well known, allowing early diagnosis. So far, clinical diagnosis is generally based on the presence of features such as cardiac supravalvular aortic stenosis and pulmonary artery stenosis in association with intellectual disability and/or unusual faces. Multidisciplinary management is essential for the wide variety of associated anomalies and the family impact that the early diagnosis and prognosis entails. Here we present 2 cases of WBS, diagnosed during the infant period, who showed different phenotypes and clinical findings within the WBS spectrum (AU)

Influencia del ácido docosahexaenoico y la hipoxia perinatal moderada en la resolución de un laberinto en T en ratas Wistar de un mes de edad / The influence of docosahexaenoic acid and moderate perinatal hypoxia on the performance of one-month-old Wistar rats in a T-maze test

Introducción. El ácido docosahexaenoico (DHA) tiene una influencia favorable en el neurodesarrollo tanto de niños como de modelos animales. Las lesiones inducidas por la asfixia perinatal constituyen una causa importante de trastornos del neurodesarrollo. Objetivo. Se plantea si el efecto positivo en el desarrollo del sistema nervioso central se puede inducir en animales sometidos a condiciones de hipoxia moderada. Materiales y métodos. Se dividió un total de 140 crías de rata Wistar en dos grupos principales de 70 cada uno. Un grupose crió con dieta suplementada con DHA, mientras que el otro lo fue con dieta normal. La mitad de cada grupo fue sometida a una situación de hipoxia neonatal inmediata (FiO2 = 0,05; 1 h). Todas las ratas fueron sometidas individualmente a un test de laberinto en T para valorar su evitación pasiva, entre otras habilidades, los días P25 (pruebas 1, 2 y 3) y P30 (prueba 4). Todos los ensayos fueron registrados en vídeo y revisados para tomar nota del tiempo de resolución del test (TRT), del número de choques eléctricos recibidos (NCE) y del porcentaje de resoluciones correctas del test (RCT). Resultados. Los animales del grupo control mejoraron significativamente el TRT (p < 0,01). El grupo de dieta suplementada con DHA sólo mejoró la RCT (p < 0,001). El grupo de hipoxia mejoró el TRT (p < 0,014) y el NCE (p < 0,004). El grupo de hipoxia y con dieta con DHA mejoró el NCE (p < 0,0000) y la RCT (p < 0,0001). Conclusiones. Los grupos sometidos a hipoxia moderada o a dieta suplementada con DHA de forma independiente mejoraron los resultados del laberinto en T en relación con el grupo de control. Las ratas sometidas a las dos condiciones experimentales a la vez mejoraron su perfil de resolución del laberinto en T con respecto al grupo de control y a los animales sometidos a una de las dos condiciones experimentales por separado (AU)

Introduction. Docosahexaenoic acid (DHA) has been shown to improve neurodevelopment in both human observations and animal models. Perinatal hypoxic insults have been recognized as a major cause of neurodevelopmental disturbances. Aim. To find out if the CNS-improving effect of DHA could be induced in animals subjected to mild perinatal hypoxic conditions. Materials and methods. A total of 140 Wistar rat pups were separated into two main groups of 70 each, and one group was reared on a DHA-supplemented diet while the other was not. One half of each group was subjected to immediate post-natal hypoxia (FiO2 = 0.05, 1 h). All the rats were individually subjected to a T-maze to test their passive-avoidance performance, among other skills, on days P25 (three trials) and P30 (one trial). All the trials were videotaped and reviewed to record the maze-solving time (MST), the number of electrical hazards (NEH) and the correct maze-solution percentage (CMS). Results. The animals in the control group significantly improved their MST (p < 0.01). The group on the DHA-supplemented diet improved only the CMS (p < 0.001). The hypoxic group improved the MST (p < 0.014) and the NEH (p < 0.004). The hypoxic group on the DHA-supplemented diet improved the NEH (p < 0.0000) and the CMS (p < 0.0001). Conclusions. The subgroups subjected to one experimental condition or the other (DHA-supplemented diet or perinatal hypoxia) independently improved their T-maze-test performance more than the absolute control group. The rats subjectedto both conditions appeared to improve their T-maze-test solution performance more effectively than the control groups and the groups subjected to only one of the two conditions (AU)

[The influence of docosahexaenoic acid and moderate perinatal hypoxia on the performance of one-month-old Wistar rats in a T-maze test]. / Influencia del acido docosahexaenoico y la hipoxia perinatal moderada en la resolucion de un laberinto en T en ratas Wistar de un mes de edad.

INTRODUCTION: Docosahexaenoic acid (DHA) has been shown to improve neurodevelopment in both human observations and animal models. Perinatal hypoxic insults have been recognized as a major cause of neurodevelopmental disturbances. AIM: To find out if the CNS-improving effect of DHA could be induced in animals subjected to mild perinatal hypoxic conditions. MATERIALS AND METHODS: A total of 140 Wistar rat pups were separated into two main groups of 70 each, and one group was reared on a DHA-supplemented diet while the other was not. One half of each group was subjected to immediate post-natal hypoxia (FiO2 = 0.05, 1 h). All the rats were individually subjected to a T-maze to test their passive-avoidance performance, among other skills, on days P25 (three trials) and P30 (one trial). All the trials were videotaped and reviewed to record the maze-solving time (MST), the number of electrical hazards (NEH) and the correct maze-solution percentage (CMS). RESULTS: The animals in the control group significantly improved their MST (p < 0.01). The group on the DHA-supplemented diet improved only the CMS (p < 0.001). The hypoxic group improved the MST (p < 0.014) and the NEH (p < 0.004). The hypoxic group on the DHA-supplemented diet improved the NEH (p < 0.0000) and the CMS (p < 0.0001). CONCLUSIONS: The subgroups subjected to one experimental condition or the other (DHA-supplemented diet or perinatal hypoxia) independently improved their T-maze-test performance more than the absolute control group. The rats subjected to both conditions appeared to improve their T-maze-test solution performance more effectively than the control groups and the groups subjected to only one of the two conditions.

Bases biológicas del autismo / Biological bases of autism

En el contexto de la asistencia pediátrica diaria, la apropiada comprensión de las bases biológicas del autismo es indispensable para el diagnóstico e intervención precoz en estos pacientes, lo que permitirá la integración social total o parcial del sujeto en un número elevado de casos. El objetivo de esta revisión es actualizar los conceptos relacionados con la etiología del autismo y la orientación en el manejo clínico que esto representa. Se revisa el origen genético, congénito y metabólico, a la luz de las aportaciones bibliográficas más relevantes en esos ámbitos. Se concluye que el paciente autista presenta en su base etiológica una amplia diversidad genética, dejando menos espacio a los factores orgánicos adquiridos y muy reducida la influencia de factores ambientales de tipo social y educacional

The correct knowledge of the biological bases of autism, is indispensable to abtain an early diagnosis and intervention in these patients, in the context of the daily pediatric assistance, allowing a total or partial patient social integration in a good number of cases. The aim of this revision is to update etiologic concepts related to autism and its implications in the clinical management. The genetic, congenital and metabolic origins are reviewed to the light of recent publications in those fields. It is conclude that the autistic patients shows a wide genetic variability in their etiologic base, giving less room to acquired organic factors and even less to educational or social environmental factors

["Floppy infant" syndrome in twins secondary to the use of benzodiazepines during pregnancy]. / 'Floppy infant' en gemelos por uso de benzodiacepinas durante la gestación.

INTRODUCTION: Due to the pharmacological characteristics of benzodiazepines, they have been use in a wide variety of disorders, as well as during pregnancy and labor. Benzodiazepine intake during early pregnancy may be teratogenic, and their intake during late pregnancy may be associated with neonatal withdrawal syndrome and 'floppy infant' syndrome. CLINICAL CASE: A hypotonic syndrome in twins secondary to the use of diazepam in the last month of pregnancy is described. Their neurological improvement occur in the first two weeks of life, in relation with the normalization in diazepam blood levels. CONCLUSIONS: The list of possible diagnosis for floppines in newborn is extensive, and we must remember some drugs use during pregnancy. Diazepam show a rapid placental transfer with significant uptake of the drug; by this, high single doses and repeated and prolonged administration of benzodiazepines have to be avoided during pregnancy.

[Perinatal differences in relation to the severity of perinatal asphyxia]. / Diferencias perinatales en relación con la severidad de la asfixia perinatal.

OBJECTIVE: Despite the widespread use of the term perinatal asphyxia, there is little uniformity in the clinical definition of asphyxia, which makes comparison of incidence, treatment and outcome very difficult. The aim of this study was to know the perinatal differences of perinatal asphyxia in relation to its severity (severe and non-severe). PATIENTS AND METHODS: A prospective epidemiological study of perinatal asphyxia in fullterm infants born in our hospital between November 1991 and February 1995 was carried out. Perinatal asphyxia was graded as non-severe (1 minute Apgar score < or = 6 and/or umbilical artery pH < 7.20, with abnormal fetal heart rate patterns and/or meconium-stained amniotic fluid and the need for immediate neonatal resuscitation) and severe (1 minute Apgar score < or = 3 and umbilical artery pH < 7.10). The perinatal variables were graded as prenatal (gestational and obstetric), neonatal (resuscitation, general data of the newborn and organic manifestations of asphyxia) and postneonatal (neurologic sequelae at follow-up). RESULTS: During the study period there were 3.343 fullterm live births. Perinatal asphyxia developed in 156 cases (31 severe and 125 non-severe), with an incidence of 4.66 cases per 100 fullterm newborns. Neurologic manifestations (hypoxic-ischemic encephalopathy) during the neonatal period were present in 25.6% and extraneurological manifestations (hypoxic-ischemic disease) in 41.7% of the cases. The incidence of neurologic sequelae, in 115 asphyxiated full-term infants followed for at least 12 months, was 16.5% (19 cases). The main differences between severe and non-severe perinatal asphyxia were: chronic maternal diseases, distocic deliveries, thick meconium-stained amniotic fluid, all of the variables of neonatal resuscitation (Apgar score, umbilical artery pH, etc.), neurological and extraneurological (mainly pulmonary, digestive and cardiologic) manifestations during the neonatal period and neurological sequelae at follow-up. CONCLUSIONS: The main perinatal differences in relation to the severity of perinatal asphyxia were important in clinical management of asphyxiated newborns (neonatal resuscitation and systemic manifestations) and in their follow-up (early detection of neurologic sequelae).

[Usefulness of renal scintigraphy in the assessment of the first febrile urinary infection in children]. / Utilidad de la gammagrafía renal en la valoración de la primera infección urinaria febril en la edad pediátrica.

OBJECTIVE: The objective of this study was to compare the findings of renal ultrasonography and 99mTc-DMSA renal scintigraphy in children with their first acute febrile urinary tract infection to determine which method is better in detecting patients at risk of renal injury or reflux. PATIENTS AND METHODS: Thirty-three children between 0.2 and 12.3 years of age with their first acute febrile urinary tract infection were studied by means of clinical and laboratory assessment, renal ultrasonography and 99mTc-DMSA renal scintigraphy. In 24 patients (72.7%) a voiding cystourethrography was made. The patients were divided into two groups, those under 2 years of age (n = 14) and those over 2 years old (n = 19). RESULTS: Cortical scintigraphy showed renal changes in 23 patients (69.7%) and ultrasonography showed renal changes in 2 (6.1%; p < 0.05). Children over 2 years of age had a higher incidence of renal lesions than did younger children (84.2% vs 50%; p < 0.05). There were no differences between girls and boys. Reflux was demonstrated in 13 patients (54.2%). Among those kidneys which presented abnormal cortical scintigraphy, vesicoureteral reflux was present in 76.5% of the studies. Furthermore, of those with abnormal ultrasonography vesicoureteral reflux was present in 17.6%. CONCLUSIONS: We found a high incidence of renal involvement in children with their first acute febrile urinary tract infection. The cortical scintigraphy is more sensitive than ultrasonography in detecting renal changes. The incidence of vesicoureteral reflux in febrile urinary tract infection is high. When there is a renal cortical defect the risk of reflux is higher. This suggests that cortical scintigraphy should be added to the initial examination of children with their first acute febrile urinary tract infection and this could be supplemented by voiding cystourethrography alone, with ultrasonography having a secondary role.