Cierre parcial del ductus arterioso intraútero asociado a consumo materno de flavonoides / Partial closure of the intrauterine arteriosus ductus resulting from a maternal consumption of flavonoids

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Corticoides antenatales y prevención del distrés respiratorio del recién nacido prematuro: utilidad de la terapia de rescate / Ante-natal corticosteroids and prevention of respiratory distress in the premature newborn: Usefulness of rescue treatment

Aunque se conoce la efectividad de la corticoterapia materna para la maduración pulmonar fetal en prematuros, no hay seguridad acerca del tiempo en que el tratamiento continúa siendo efectivo. Realizamos un estudio descriptivo y longitudinal, para relacionar el tiempo transcurrido desde la administración de glucocorticoides maternos, y la necesidad o no de surfactante, y a partir de qué punto se debería considerar la repetición de las dosis de corticoides maternos. Se incluyeron 91 prematuros de ≤32 semanas y/o ≤1.500g (límite 34+6 semanas) cuyas madres habían recibido una pauta completa de corticoides. En los pacientes de 27-34+6 semanas, comprobamos que a mayor tiempo transcurrido entre el parto y la administración de corticoides, mayor probabilidad de necesitar tratamiento con surfactante (p=0,027). La curva ROC calculada determinó un punto de corte de 8 días a partir del cual debería valorarse el repetir la dosis de corticoide

The effectiveness of antenatal corticosteroid therapy for foetal lung maturation in pre-term infants is well known, but there is uncertainty about the time that the treatment remains effective. A descriptive, longitudinal study was conducted to determine whether the need for surfactant administration was determined by the time-lapse between corticosteroids administration and delivery, and when repeating the doses of maternal corticosteroids should be considered. A total of 91 premature infants ≤32 weeks and/or ≤1,500 g (limit 34+6 weeks) whose mothers had received a complete course of corticosteroids were included. In patients at 27-34+6 weeks, we found that the longer the time elapsed between delivery and administration of corticosteroids, most likely were the babies to require treatment with surfactant (P=.027). The resulting ROC curve determined an 8-days cut-off after which repeating a dose of corticosteroids should be assessed

Prenatal alcohol exposure and its repercussion on newborns.

BACKGROUND: Alcohol consumption during pregnancy, even when moderate, implies a risk of impaired neurodevelopment, physical impairments and malformations. Its early identification is essential for establishing preventive measures to diminish disabilities among newborns. METHODS: To determine the frequency of consumption of substance use in pregnant women, we have used the techniques of gas chromatography/mass spectrometry and liquid chromatography/tandem mass spectrometry to detect drugs and markers of chronic consumption of alcohol in meconium. We performed a prospective study during a period of 10 months among 110 infants in our hospital, assessing anthropometry, neuromuscular development and determination of toxic substances in urine and meconium. Furthermore, meconium analysis identified fatty acid ethyl esters (FAEEs) and ethyl glucuronide (Etg). We also conducted a survey regarding the obstetric history, toxic habits, and employment status of the mothers. RESULTS: According to early detection markers analyzed in meconium (FAEE >1000 ng/g and/or Etg >50 ng/g meconium), 34.65% of pregnant women consumed alcohol during pregnancy, and 17% were positive for both markers. Within the positive cases, 50% of those exceeding a FAEE's value of 5000 ng/g in meconium had low birth-weight children. Only 5/110 mothers (4.5%) admitted to occasional alcohol consumption during pregnancy. Nobody admitted to frequent intake. The cocaine test was positive in three cases; two of them were positive for alcohol as well. CONCLUSION: As expected, many screening devices do not accurately capture use during pregnancy and supplemental methods such as meconium analysis of biomarkers of chronic alcohol consumption may be warranted.

Fallo hepático agudo neonatal: presentación de 2 casos y revisión de la bibliografía / Acute neonatal liver failure: two case studies and literature review

El fallo hepático agudo neonatal es una entidad poco frecuente, con una mortalidad muy elevada. La sospecha de fallo hepático ante situaciones de mal estado general y disfunción hepática, hipoglucemia recurrente o persistente y clínica de sepsis es fundamental para establecer un tratamiento precoz y efectivo. Existen pruebas de primera y segunda línea para poder orientar un diagnóstico etiológico, a la vez que se instauran medidas generales que permitan su estabilización, antes de considerar otras medidas terapéuticas, como el trasplante hepático. Presentamos el inicio y la evolución de 2 casos de fallo hepático neonatal diagnosticados de hemocromatosis y linfohistiocitosis hemofagocítica familiar (AU)

Acute neonatal liver failure is a rare entity with a high mortality rate. In order to establish an early and effective treatment, a high index of suspicion in newborns with a poor general condition and hepatic dysfunction, recurrent or persistent hypoglycaemia and signs and symptoms of sepsis, is critical. There are first- and second-line test to establish the aetiology, parallel to the implementation of general stabilization measures, and prior to the consideration of other therapeutic options such as liver transplantation. We present the onset and the outcome of two patients affected from acute neonatal liver failure that were diagnosed of hemochromatosis and hemophagocytic lymphohistiocytosis, respectively (AU)

[Ante-natal corticosteroids and prevention of respiratory distress in the premature newborn: usefulness of rescue treatment]. / Corticoides antenatales y prevención del distrés respiratorio del recién nacido prematuro: utilidad de la terapia de rescate.

The effectiveness of antenatal corticosteroid therapy for foetal lung maturation in pre-term infants is well known, but there is uncertainty about the time that the treatment remains effective. A descriptive, longitudinal study was conducted to determine whether the need for surfactant administration was determined by the time-lapse between corticosteroids administration and delivery, and when repeating the doses of maternal corticosteroids should be considered. A total of 91 premature infants ≤32 weeks and/or ≤1,500 g (limit 34+6 weeks) whose mothers had received a complete course of corticosteroids were included. In patients at 27-34+6 weeks, we found that the longer the time elapsed between delivery and administration of corticosteroids, most likely were the babies to require treatment with surfactant (P=.027). The resulting ROC curve determined an 8-days cut-off after which repeating a dose of corticosteroids should be assessed.

Meduloblastoma congénito gigante de presentación y localización atípicas / Congenital giant medulloblastoma with atypical presentation and location

El meduloblastoma congénito es uno de los tumores intracraneales más frecuentes en la edad pediátrica; sin embargo, su presentación es poco frecuente antes de los 2 meses de vida. Presentamos el caso deun recién nacido con un meduloblastoma congénito gigante, con sintomatología en el periodo neonatal inmediato y de localización atípica. Este tipo de tumor debe ser tenido en consideración al realizar el diagnóstico diferencial de la hidrocefalia congénita (AU)

Congenital medulloblastoma is one of the most frequent pediatric intracranial tumors, however, it is unusual its presentation before the two months of life. We are presenting the case of a new-born infant with a giant congenital medulloblastoma, with symptoms in the immediate neonatal period and atypical location. This kind of tumor must be taken on account when making a differential diagnosis of congenital ventricular hydrocephalus (AU)

Trombosis intracardiaca neonatal ligada a catéter: utilidad del activador tisular del plasminógeno recombinante / Neonatal intracardiac thrombosis related to catheter: use of recombinat tissue plasminogen activator

La utilización de catéteres venosos centrales en las unidades de cuidados intensivos neonatales es una práctica habitual no exenta de complicaciones. Dentro de dichas complicaciones, las más frecuentes son las de tipo infeccioso, aunque no podemos desdeñar las de tipo mecánico y trombótico. La incidencia de trombosis ligada al catéter es variable, y la actitud que cabe tomar ante dicho cuadro sigue siendo controvertida en el periodo neonatal. Presentamos el caso de un recién nacido a término que, debido a su patología de base, precisó un acceso venoso central mediante canalización umbilical. Al tercer día de vida se detectó por ecocardiografía la existencia de un trombointra auricular derecho, que se resolvió mediante tratamiento fibrinolítico local con activador tisular del plasminógeno recombinante, administrado a través de catéter silástico central, sin observarse complicaciones mayores(AU)

The use of central venous catheters in the intensive neonatal care units is a common practice not without complications, being infections its most common type, although mechanic and thrombotic ones are also common. The incidence of thrombosis related to catheter varies, and the attitude in the neonatal period remains controversial. We are discussing a case of a term new born suffering from a previous pathology, and central venous access via umbilical pipe was required. On its third day of life, the newborn was detected a right a trial thrombus by means of echocardiography, that was resolved with local thrombolytic therapy with r TPA, administered through central silastic catheter with no further complications observed(AU)

Hipermetioninemia en el recién nacido pretérmino. Estudio de los factores predisponentes / Hypermethioninemia in the preterm newborn. Predisposing factors

Introducción: El exceso de metionina puede ser causa de alteraciones del sistema nervioso central, tales como edema cerebral difuso y trastornos de la mielinización. Pacientes y método: Estudio ambispectivo observacional durante un período de 15 meses de los recién nacidos prematuros ingresados en nuestro hospital que presentaron hipermetioninemia en las pruebas de cribado neonatal por espectrometría de masas en tándem. Seguimiento evolutivo de estos neonatos hasta el año de edad con valoración de sus niveles de metionina en relación con la alimentación, parámetros somatométricos y desarrollo neurológico. Resultados: De una población de estudio de 187 neonatos pretérmino, 16 de ellos presentaron hipermetioninemia aislada. El peso y la alimentación de estos recién nacidos con una fórmula de inicio especial enriquecida en metionina está relacionada con el aumento del número de casos de hipermetioninemia aislada transitoria (el 62,6% recibieron un aporte de metionina superior a 97mg/kg/día), además se halló una correlación estadísticamente significativa entre los días que los pacientes recibían esa fórmula y el tiempo que tardaron en normalizarse las cifras de metionina en plasma (r: 0,791; p: 0,000). No observamos correlación entre las cifras máximas de metionina alcanzadas en plasma y la puntuación obtenida en el test de Brunet Lézine a los 6 meses de edad corregida. Conclusiones: Este estudio pone de relevancia la importancia del suplemento de aminoácidos, concretamente de metionina, en las leches de fórmula de los recién nacidos prematuros por la trascendencia que pueden suponer para su desarrollo neurológico (AU)

Introduction: Excess methionine can cause central nervous system disorders such as diffuse cerebral edema and disorders of myelin. Patients and method: A retrospective and prospective (ambispective) observational study in preterm newborns admitted to our hospital over a period of 15 months and who had hypermethioninemia in neonatal screening tests by tandem mass spectrometry. The progress of these infants was monitored during the first year of life, assessing their methionine levels, diet, somatometric parameters and neurodevelopment. Results: From a study population of 187 preterm infants, 16 of them showed isolated hypermethioninemia. Weight and feeding the babies with a special formula enriched with methionine is related to an increased number of cases of transient isolated hypermethioninemia (62.6% received a higher contribution of methionine than 97mg/kg/day). We also found a statistically significant correlation between the days that patients received the formula and the time it takes to normalize the levels of methionine in plasma (R 0.791, p=0.000). There was no correlation between the methionine peak reached in plasma and the score on the Brunet Lézine test, at the corrected age of 6 months. Conclusions: This study highlights the importance amino acid supplements, particularly methionine, in premature infants’ formulas due to the impact they may have on neurological development (AU)

[Hypermethioninemia in the preterm newborn. Predisposing factors]. / Hipermetioninemia en el recién nacido pretérmino. Estudio de los factores predisponentes.

INTRODUCTION: Excess methionine can cause central nervous system disorders such as diffuse cerebral edema and disorders of myelin. PATIENTS AND METHOD: A retrospective and prospective (ambispective) observational study in preterm newborns admitted to our hospital over a period of 15 months and who had hypermethioninemia in neonatal screening tests by tandem mass spectrometry. The progress of these infants was monitored during the first year of life, assessing their methionine levels, diet, somatometric parameters and neurodevelopment. RESULTS: From a study population of 187 preterm infants, 16 of them showed isolated hypermethioninemia. Weight and feeding the babies with a special formula enriched with methionine is related to an increased number of cases of transient isolated hypermethioninemia (62.6% received a higher contribution of methionine than 97mg/kg/day). We also found a statistically significant correlation between the days that patients received the formula and the time it takes to normalize the levels of methionine in plasma (R 0.791, p=0.000). There was no correlation between the methionine peak reached in plasma and the score on the Brunet Lézine test, at the corrected age of 6 months. CONCLUSIONS: This study highlights the importance amino acid supplements, particularly methionine, in premature infants' formulas due to the impact they may have on neurological development.

Seudoquiste pancreático en dos pacientes menores de 24 meses / Pancreatic pseudocysts in two patients under 24 months of age

El seudoquiste pancreático se produce como consecuencia de un proceso inflamatorio y/o traumático; su contenido es estéril y rico en enzimas pancreáticas. Habitualmente, debe sospecharse ante una elevación persistente de la amilasa, puesto que suele ser asintomático, salvo complicaciones. El 40-50% de los seudoquistes se resuelven espontáneamente, y deben drenarse los mayores de 6 cm y/o que persistan más de seis semanas, dado el riesgo de complicaciones. Presentamos los casos de dos pacientes menores de 24 meses con seudoquistes pancreáticos secundarios a pancreatitis agudas: el primero con una evolución típica y el segundo con una elevación aislada de la lipasa

Pancreatic pseudocysts are produced as a result of an inflammatory process or trauma, and contain a sterile, amylase-rich fluid. They should be suspected in the case of persistently increased amylase levels, as they are asymptomatic unless complications develop. Pseudocysts resolve spontaneously in 40%- 50% of cases. Those measuring more than 6 cm and/or persisting for more than 6 weeks are at high risk for the development of further complications and therefore require drainage. We describe two cases of pancreatic pseudocysts secondary to acute pancreatitis in two patients under 24 months of age. The first one exhibited the typical course, whereas, in the second one, an isolated increase in lipase was detected

Lisencefalia tipo I con microdeleción 17p13: 3 síndrome de Miller-Dieker / Type I lissencephaly with microdeletion on 17p13: 3: Miller-dieker Syndrome

El síndrome de Miller-Dieker es una entidad que se caracteriza por una lisencefalia tipo I, microcefalia, frente prominente, estrechamiento craneal bitemporal, nariz estrecha con narinas antevertidas, labio superior prominente y micrognatia, ocasionada por mutaciones en el cromosoma 17p13, y que se manifiesta con retraso psicomotor severo, epilepsia de difícil control y trastornos de la alimentación. Presentamos el caso de una niña de 7,5 meses, con retraso psicomotor, epilepsia de difícil control, perímetro craneal en el límite bajo de la normalidad, frente prominente y micrognatia, en la que se comprobó una lisencefalia tipo I mediante resonancia magnética y la deleción del gen LIS1 mediante hibridación in situ (FISH). El síndrome de Miller-Dieker debe sospecharse ante un paciente con lisencefalia tipo I, los rasgos fenotípicos descritos y convulsiones de difícil control. El estudio genético mediante FISH resulta útil tanto para el diagnóstico definitivo como para el consejo genético

Introduction: Miller-Dieker syndrome is characterized by type I lissencephaly, microcephaly, prominent forehead, bitemporal hollowing, short nose with up turned nares, protuberant upper lip with a thin vermilion border, and small jaw. It is caused by different mutations on chromosome 17p13, and the clinical manifestations consist of severe psychomotor retardation, epilepsy with a poor response to treatment and eating disorders. Case report: We describe the case of a 7.5-month-old girl with psychomotor retardation, severe epilepsy with a poor response to treatment, head circumference at the lower limit of normal range, prominent forehead and small jaw. Magnetic resonance imaging confirmed the diagnosis of type I lissencephaly and fluorescence in situ hybridization (FISH) revealed deletion of the LIS1 gene. Comments: Miller-Dieker Syndrome should be suspected in any patient with type I lissencephaly, the phenotype described above and severe seizures. The genetic study by means of FISH is useful for both the diagnosis and genetic counselling