Linfangiectasia pulmonar congénita primaria como causa de muerte neonatal inesperada / Primary congenital pulmonary lymphangiectasis presenting as sudden newborn

INTRODUCCIÓN: La linfangiectasia pulmonar congénita constituye una entidad poco frecuente, caracterizada por la dilatación congénita de vasos linfáticos pulmonares a distintos niveles. Clínicamente se presenta con insuficiencia respiratoria severa refractaria a tratamiento que aparece en las primeras horas de vida, con elevada mortalidad. CASO CLÍNICO: Presentamos el caso de un recién nacido a término, sin antecedentes de interés, fallecido de forma repentina a las dos horas de vida. La necropsia reveló la presencia de dilataciones quísticas diseminadas en vasos linfáticos pulmonares, sin otras malformaciones asociadas, estableciendo el diagnóstico de linfangiectasia pulmonar congénita primaria como causa de la muerte. DISCUSIÓN: La linfangiectasia pulmonar congénita es una enfermedad rara, de origen desconocido y poco documentada. La forma primaria, limitada al tejido linfático pulmonar, de difícil diagnóstico prenatal, presenta elevada mortalidad

INTRODUCTION: Congenital pulmonary lymphangiectasia is a rare entity characterized by congenital dilatation of pulmonary lymphatics at different levels. Clinically presents with severe respiratory failure refractory to treatment that appears in the first hours of life, with high mortality. CASE REPORT: We report the case of a term infant with no history of interest, who died suddenly after two hours of life. The autopsy revealed the presence of scattered cystic dilations pulmonary lymphatics, without other associated malformations, establishing primary congenital pulmonary lymphangiectasia as the cause of death. DISCUSSION: Congenital pulmonary lymphangiectasia is a rare disease of unknown origin and poorly documented. The primary form, limited to pulmonary lymphatic tissue, prenatal diagnosis is difficult, presents high mortality

Prematuridad tardía: una población de riesgo / Late preterm: A population at risk

Antecedentes: Desde hace una década se pone de manifiesto el riesgo significativamente superior de morbimortalidad del prematuro tardío (RNPT) en relación al nacido a término. Población y método: Estudio prospectivo clínico-epidemiológico de los nacidos entre la 340 y 366 semanas de gestación de 34 hospitales del Grupo SEN34-36 recogidos durante 5años. Análisis de los resultados y comparación con nacidos a término. Resultados: Se obtuvieron datos de 9.121 RNPT, con una tasa de prematuridad tardía del 5,9% (71,8% de los prematuros). Fallecieron el 2,8 por mil . El parto se indujo en el 7%. En el 47,9% se practicó cesárea (44,4% programada), con un 18,8% de causa desconocida o no justificada. Presentaron diagnósticos de patología gestacional el 41,4%, siendo los más frecuentes: rotura prematura de membranas, síndromes hipertensivos, diabetes, amenaza de parto prematuro y crecimiento intrauterino restringido. La causa de prematuridad figuró como desconocida en el 29%, y en el 3,1% como injustificada, con un incremento significativo paralelo al de la edad gestacional. Ingresaron el 58,6% (15% cuidados intensivos). Los diagnósticos más frecuentes fueron hiperbilirrubinemia (43,5%), hipoglucemia (30%) y trastornos respiratorios (28,7%). Conclusiones: La morbimortalidad asociada a la prematuridad tardía justifica la revisión de los protocolos a la hora de finalizar la gestación antes de término y ajustarlos a criterios acordes a la evidencia científica, sin empeorar la morbimortalidad feto-materna. Pediatras y obstetras no debemos desestimar los efectos a corto y a largo plazo de la prematuridad tardía

Background: For the last decade, significant higher rates of morbidity and mortality in late preterm infants (LPI) have been observed when compared with term babies. Population and method: A prospective epidemiological study of late preterm babies registered for 34 hospitals in the SEN34-36 database for a five years period. A comparison with data from term babies was established. Results: 9,121 LPI were enrolled. Late prematurity rate was 5.9% (71.8% of premature infants). Mortality rate was 2.8 per-mille . Labor was induced in 7% of births. A cesarean section was performed in 47.9% of pregnancies, 44.4% of them were planned, and in 18.8% there was not a justified reason to perform it. 41.4% of pregnacies presented diagnoses of gestational pathology, being the most frequent diagnoses: premature rupture of the membranes, hypertensive syndromes, diabetes, preterm labor and restricted intrauterine growth. The reason of prematurity was unknown in 29% of births, and in 3.1% it was considered as unjustified, with a significant increase of this percentage in higher gestational ages. 58.6% of LPI were admitted to the Neonatal Unit (15% to the Neonatal Intensive Care Unit). The most frequent diagnoses were hyperbilirubinemia (43.5%), hypoglycaemia (30%) and respiratory disorders (28.7%). Conclusions: the increased rates of morbidity and mortality in LPI make necessary the revision of obstetrics protocols related to ending gestation before term according to the best evidence, although maternal and fetus morbidity and mortality shouldn't be increased. Pediatricians and obstetricians should not misconsider the effects of late prematurity and create protocols for perinatal care and follow-up for this population at risk

Características de los casos incluidos en el Registro Español de Pacientes con déficit de alfa-1 antitripsina / Profiles of cases included in the Spanish registry of patients with alpha-1 antitrypsin deficiency

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Raquitismo resistente a la vitamina D / Vitamin D resistant rickets

El raquitismo dependiente de la vitamina D tipo 1 es una enfermedad rara, autosómica recesiva, causada por el defecto de la enzima 1-α-hidroxilasa, secundario a una mutación en el gen CYP27B1, que lleva a una incapacidad para convertir la 1,25(OH)2D3 a partir de la 25OHD3. Presentamos el caso ilustrativo de una lactante afectada de un raquitismo dependiente de la vitamina D tipo 1, con una mutación no descrita anteriormente y una clínica florida de raquitismo, en que la determinación de unos niveles de 1,25(OH)2D3 dentro de los límites normales puede convertirse en un factor de confusión en el proceso diagnóstico. La falta de respuesta al tratamiento con colecalciferol debe ser una señal inequívoca para sospechar un raquitismo resistente a la vitamina D. El manejo y el seguimiento del tratamiento con calcitriol en estos niños es difícil de realizar, aunque de vital importancia para evitar complicaciones a largo plazo (AU)

Vitamin D dependent rickets type I is a rare autosomal recessive disorder caused by a 1-α-hydroxylase deficiency, due to a mutation in the gene CYP27B1, that leads to an inability to convert vitamin D (25OHD3) to its hormonally active form 1,25(OH)2D3. We present the case of an infant affected by vitamin D dependent rickets type I, with a mutation not previously described, showing a huge variety of clinical features, where the determination of 1,25(OH)2D3 levels within the normal limits may be a factor for confusion in the diagnostic process. The lack of response to treatment with cholecalciferol must be a clear signal for suspecting vitamin D resistant rickets. The management and follow-up of treatment with calcitriol in these children is difficult, and of vital importance to prevent long term complications (AU)

Fractura craneal deprimida congénita: ¿actitud a seguir? / Congenital depressed skull fracture: The steps to follow?

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Hiperinsulinismo congénito / Congenital hyperinsulinism

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Episodio aparentemente letal neonatal precoz / Early neonatal apparent life-threatening event

El contacto «piel con piel» tras el nacimiento ha demostrado efectos beneficiosos sobre la adaptación a la vida extrauterina y el vínculo madre-hijo, así como sobre la frecuencia y la duración de la lactancia materna. Teniendo en cuenta que la mayoría de los episodios aparentemente letales neonatales precoces se producen en las primeras 2 horas de vida, durante el contacto piel con piel, creemos imprescindible garantizar la vigilancia en ese periodo (AU)

The 'skin to skin' contact has demonstrated beneficial effects on the adaptation to extrauterine life, on the mother-child bond and frequency and duration of breastfeeding. Considering that the early neonatal apparently lethal episode happens in most cases in the first two hours of life during the skin to skin contact, we must ensure supervision in that period (AU)

Recomendaciones para el manejo perinatal y seguimiento del recién nacido prematuro tardío / Recommendations for the perinatal management and follow up of late preterm Newborns

La prematuridad es la primera causa de morbimortalidad neonatal e infantil, y constituye uno de los problemas de salud más importantes de la sociedad, especialmente en las más industrializadas. La tasa de prematuridad ha ido incrementándose paulatinamente en los 2 últimos decenios, sobre todo debido al aumento de los denominados prematuros tardíos con edad gestacional entre 34+0 y 36+6 semanas. Las complicaciones, tanto perinatales como a medio y largo plazo, de este grupo de población son considerablemente más frecuentes que las de los recién nacidos a término, y con una incidencia más similar a la de los prematuros de inferiores edades gestacionales. La Sociedad Espa˜nola de Neonatología, a través de su Grupo SEN34-36, ha elaborado unas recomendaciones genéricas para la atención de este grupo de pacientes. Se proponen pautas tanto para la detección precoz como para el manejo de los problemas más habituales en el periodo perinatal más inmediato, incluyendo estrategias de cuidados centrados en el desarrollo y la familia. Asimismo, se insiste en la necesidad de seguimiento a medio y largo plazo, por el mayor riesgo de complicaciones tardía

Prematurity is the main reason for neonatal morbidity and mortality, and has become one of the greatest problems in public health, especially in developed countries. Prematurity rate has increased during the last 2 decades. This increase may be attributed to late preterm babies, that is, those with a gestational age between 34+0 and 36+6 weeks. Perinatal morbidities, as well as long term complications, are more frequent in this population than in term babies. The incidence is more similar to the one observed in earlier premature babies. The SEN34-36 group of the Spanish Society of Neonatology suggests these recommendations for the management of late preterm babies. Strategies are offered not only for the early detection of possible complications, but also for the correction of these morbidities, and from the point of view of a family and development centered care. Follow up is strongly recommended due to the high rate of late morbidities

[Recommendations for the perinatal management and follow up of late preterm newborns]. / Recomendaciones para el manejo perinatal y seguimiento del recién nacido prematuro tardío.

Prematurity is the main reason for neonatal morbidity and mortality, and has become one of the greatest problems in public health, especially in developed countries. Prematurity rate has increased during the last 2 decades. This increase may be attributed to late preterm babies, that is, those with a gestational age between 34(+0) and 36(+6) weeks. Perinatal morbidities, as well as long term complications, are more frequent in this population than in term babies. The incidence is more similar to the one observed in earlier premature babies. The SEN34-36 group of the Spanish Society of Neonatology suggests these recommendations for the management of late preterm babies. Strategies are offered not only for the early detection of possible complications, but also for the correction of these morbidities, and from the point of view of a family and development centered care. Follow up is strongly recommended due to the high rate of late morbidities.

Hematocolpos por himen imperforado; causa infrecuente de dolor abdominal y retención aguda de orina / Hematocolpos secondary to imperforate hymen; an uncommon cause of abdominal pain and acute urinary retention

El hematocolpos constituye una patología poco prevalente en nuestro medio, secundaria a alteraciones en la génesis del aparato genitourinario femenino, entre las cuales el himen imperforado es la malformación congénita más frecuente. La sintomatología suele ser variable e inespecífica, y el dolor abdominal es la forma de presentación clínica más frecuente. En este artículo se exponen dos casos clínicos de adolescentes afectas de esta patología. Ambas presentaron abdominalgia y síntomas miccionales. La realización de una historia clínica detallada junto con la inspección de los genitales, así como la visualización en la ecografía abdominal de una colección sanguínea localizada en la vagina, fueron fundamentales para llegar al diagnóstico. En este artículo se pretende destacar la importancia de la anamnesis y la exploración genital ante una sintomatología tan inespecífica como son el dolor abdominal y la clínica miccional, ya que puede orientarnos al diagnóstico de forma sencilla, evitando pruebas innecesarias, medidas terapéuticas erróneas y aparición de complicaciones (AU)

Hematocolpos constitutes an unusual pathology in our environment, secondary to alterations in the genesis of female genitourinary tract, being the imperforate hymen the most common congenital malformation. The symptomatology is usually variable and nonspecific with abdominal pain as the most frequent clinical presentation. In this paper we present the description of two cases of teenagers affected by this disease. Both presented abdominal pain and urinary symptoms. Besides a detailed medical history along with the inspection of the genitalia as well as the visualization in the abdominal echography of a blood collection located in the vagina, were fundamental in order to make a diagnosis. Throughout this article we intend to emphasize the relevance of the medical history and genital examination before symptoms as nonspecific as abdominal pain and urinary symptoms because of it can help us to guide the diagnosis in an easy way avoiding unnecessary tests, erroneous therapeutic measures and appearance of complications (AU)

Depresiones cutáneas agrupadas congénitas: un caso con cinco hoyuelos en una localización atípica / Grouped congenital skin depressions: a case with five dimples in an atypical location

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[Vaccine coverage after integration of a vaccination program in a health center]. / Estudio de la cobertura vacunal tras la integración de un programa de vacunaciones en un centro de salud.

OBJECTIVE: To find the variation in the vaccinal coverage of two-year old children after incorporating the vaccination programme into the Health Centre's activities. DESIGN: An analytical observation study of cases and check-ups. SETTING: Primary Care. An urban Health Centre in Badajoz. PATIENTS: Two random samples of 150 children. The Study Group (SG) was composed of children who began their vaccinations at the Health Centre after the incorporation of the vaccination programme. The Control Group (CG) was made up of children who were over 18 months old at the start of the vaccinal programme (October 1990) and therefore received their vaccinations outside the Health Centre. MEASUREMENTS AND MAIN RESULTS: 84.8% of the CG childrens correctly completed the vaccination programme as against 98.7% of the SG (p < 0.01). 99.3% of the SG children had the triple viral vaccination as against 95.2% of the CG (p < 0.05). 99.3% of the SG completed three DTP-Polio vaccinations as against 93.1% CG (p < 0.01). And 98.7% SG had four DT-Polio as against 86.9% CG (p < 0.01). CONCLUSIONS: The level of vaccinal coverage of the under-two population improved after the vaccination programme was incorporated into the Health Centre's activities, data which supports the usefulness and appropriateness of such a programme.