Brainstem dysgenesis in an infant prenatally exposed to cocaine.

Many authors described the effects on the fetus of maternal cocaine abuse during pregnancy. Vasoconstriction appears to be the common mechanism of action leading to a wide range of fetal anomalies. We report on an infant with multiple cranial-nerve involvement attributable to brainstem dysgenesis, born to a cocaine-addicted mother.

Thyroid function in 76 sick preterm infants 30-36 weeks: results from a longitudinal study.

AIM: To assess thyroid function in 76 sick preterm infants 30-36 weeks gestational age. PATIENTS AND METHODS: Measurement of serum TSH, T4, T3, free T4 and rT3 in the mother and cord at delivery, and in the infant at 1 and 24 hours, 1 and 3 weeks, 2, 4, 6 and 12 months of postnatal age. These values were compared with those of 75 healthy age-matched controls. Gestational age was 30 weeks in 24, 31 weeks in 23, 32 weeks in 13, 33 weeks in 13, 34 weeks in one, 35 weeks in one and 36 weeks in one. Hypothyroxinemia at each postnatal age was defined as serum free T4 values under -2 SD of the mean of controls. RESULTS: Forty-four patients were normothy-roxinemic at all times, and 32 presented hypothyroxinemia at 24 hours (29 patients), 1 week (seven patients) and 3 weeks (two patients). Follow-up of 31 patients who were normothyroxinemic at 24 hours of life showed that at one week three (9.7%) were hypothyroxinemic and at 3 weeks all were normothyroxinemic. At 24 hours of life, all patients with patent ductus arteriosus and all patients treated with dopamine were in the hypothyroxinemic range. CONCLUSION: Hypothyroxinemia may be present in sick preterm infants 30-36 weeks of gestational age, particularly in those treated with dopamine and/or presenting patent ductus arteriosus.

Resultats del programa de seguiment dels nadons prematurs extrems nascuts en els límits de la viabilitat de 24 i 25 setmanes d’edat gestacional / Results of the follow-up program of extremely preterm infants born at limits of viability (24 and 25 weeks of gestational age)

Fonament. Els avenços perinatològics han suposat unincrement de la supervivència dels prematurs extrems,amb una progressiva disminució dels límits de la viabilitat.Objectiu. Conèixer els resultats del seguiment dels nadons«fetals».Mètode. Han estat avaluats tots els supervivents de 24i 25 setmanes (s) d’edat gestacional que van ser donatsd’alta des de l’1 de juny de 1998 i que tenen al menys 12mesos d’edat corregida: 45 nens (14 de 24 s i 31 de 25 s).Resultats. Desenvolupament motor: normal en el 50%de 24 s i en el 78.6% de 25 s; retard motor simple en el 33%i en el 14.2%, respectivament; paràlisi cerebral en el 16%de 24 s (2 nens, 1 diplegia, 1 tetraplegia espàstica, tots dosgreus) i en el 7.1% de 25 s (2 nens, 1 moderada, 1 greu).Desenvolupament cognitiu: normal en el 25% de 24 s ien el 64.2% de 25 s; retard lleu en el 50% i en el 28.5%; retardmoderat-greu en el 25% i en el 7.1%, respectivament.Desenvolupament sensorial: visió normal en el 41.6%de 24 s i en el 64,2% de 25 s; alteracions lleus: 41.6% i32.1%; afectació greu: 16.6% i 3.6% respectivament.Seqüeles globals: en els nascuts a les 24 s: 0% lliures deseqüeles, 58.3% lleus, 16.6% moderades, 25% seqüelesgreus; en els nascuts a les 25 s: 32,1% sense seqüeles,53.6% lleus, 7.1% moderades, 7.1% seqüeles greus.Pèrdua de seguiment: 5 nens (11%).Conclusions. En la nostra població de supervivents enels límits de la viabilitat hi ha un risc de seqüeles elevat, toti que la majoria són lleus. És imprescindible continuar ambel seguiment per avaluar les conseqüències de la prematuritatextrema a llarg termini

Background. Modern obstetric and neonatal care haveincreased the survival of the extremely preterm neonates.As the limits of viability decrease, it is of paramount importanceto have reliable data on long-term morbidity.Objectives. To study the outcome of fetal infantsMethods. All surviving children of 24 and 25 weeks ofgestational age (GA) discharged from a single hospitalsince June 1st 1998, and who were at least 12 months of corrected age, were evaluated in this retrospective study.A total of 45 infants (GA 24 weeks, 14; GA 25 weeks, 31)were included.Results. Five children were lost to follow-up. Motor Development:Normal in 50% and 78.6 of GA 24 and 25 weeksinfants, respectively; mild motor delay in 33% and14.2% of GA 24 and 25 weeks, respectively; cerebral palsyin 16% of GA 24 weeks (2 children: 1 diplegia, and 1 spastictetraplegia, both severe), and 7.1% of GA 25 weeks (2children: 1 moderate and 1 severe).Cognitive development: Normal in 25% and 64.2% ofGA 24 and 25 weeks, respectively; mild delay in 50% and28.5% of GA 24 and 25 weeks, respectively; moderate tosevere delay in 25% and 7.1% of GA 24 and 25 weeks,respectively.Visual development: Normal vision in 41.6% and64.2% of GA 24 and 25 weeks, respectively; mild deficits in41.6% and 32.1% of GA 24 and 25 weeks, respectively;severe deficits in 16.6% and 3.6% of GA 24 and 25 weeks,respectively.Global impairment: In the GA 24 weeks infants, nonewere free of disabilities, 58.3% were considered to havemild sequelae, 16.6% had moderate sequelae, and 25%had severe sequelae. In the GA 25 weeks infants, 32.1% hadno disabilities, and 53.6%, 7.1%, and 7.1% were consideredto have mild, moderate, and severe sequelae, respectively.Conclusions. Newborns at the threshold of viabilityhave a high risk of developing disabilities, although inmost cases the impairments are mild. Continued follow-upinto late childhood is needed to evaluate long-term effects of extreme prematurity

Quilotórax en el período neonatal / Chylothorax in the neonatal period

Fundamento. El quilotórax es la causa más frecuente de derrame pleural en el período neonatal. Su tratamiento está basado en medidas nutricionales, farmacológicas y quirúrgicas. Aunque algunos autores han propuesto algoritmos terapéuticos, su manejo sigue sin estar bien establecido en lo referente a la mejor estrategia nutricional, la utilidad de los fármacos empleados y el momento y tipo de cirugía indicados. Hemos observado un aumento de la incidencia de quilotórax, especialmente los relacionados con procedimientos quirúrgicos, que, si persisten de manera prolongada, pueden afectar significativamente al estado clínico del paciente y contribuir a una mayor morbilidad y mortalidad. Objetivo. Revisar y actualizar las diferentes causas de quilotórax neonatal, los criterios diagnósticos y la eficacia y seguridad de las diferentes modalidades terapéuticas, tanto médicas como quirúrgicas. Método. Revisión bibliográfica de los diferentes aspectos relacionados con etiología, fisiopatología, clínica, diagnóstico y tratamiento del quilotórax neonatal. Conclusiones. No existe un algoritmo terapéutico uniforme. La mayoría de los autores abogan por un período inicial de tratamiento médico conservador con medidas nutricionales y somatostatina o análogos y, en los casos de fracaso de éste, tratamiento quirúrgico. Serían necesarios ensayos clínicos prospectivos randomizados con el objetivo de establecer la eficacia y seguridad de la somatostatina y el octreótide. El momento adecuado de indicar la cirugía sigue siendo motivo de controversia

Background. Chylothorax is the most frequent cause of pleural effusion in the neonatal period. The management includes nutritional, medical, and surgical interventions. Although therapeutic algorithms have been suggested, its management is not well established. The best nutritional approach, the effectiveness of the medical agents, and the time and type of surgery have not been defined. We have observed an increasing incidence of chylothorax, specially those cases related with surgical procedures. This condition, when long-standing, may have a profound effect on the patient clinical condition, and may result in significant increase in morbidity and mortality. Objective. To review and update the different causes and diagnostic criteria of neonatal chylothorax, and to evaluate the efficacy and safety of the different therapeutic approaches. Method. We reviewed the medical literature regarding etiology, pathophysiology, clinical features, diagnosis and treatment of neonatal chylothorax. Conclusions. The therapeutic algorithm of neonatal chylothorax is not well established. Most authors suggest an initial conservative treatment that includes nutritional management and pharmacological intervention with somatostatin or octreotide. If medical management fails, surgical intervention must be considered. Randomised prospective trials are necessary to establish the efficacy and safety of somatostatin and octreotide. Controversy exists about the appropriate time to perform surgery

Quilotórax en el período neonatal / Chylothorax in the neonatal period

Fundamento. El quilotórax es la causa más frecuente de derrame pleural en el período neonatal. Su tratamiento está basado en medidas nutricionales, farmacológicas y quirúrgicas. Aunque algunos autores han propuesto algoritmos terapéuticos, su manejo sigue sin estar bien establecido en lo referente a la mejor estrategia nutricional, la utilidad de los fármacos empleados y el momento y tipo de cirugía indicados. Hemos observado un aumento de la incidencia de quilotórax, especialmente los relacionados con procedimientos quirúrgicos, que, si persisten de manera prolongada, pueden afectar significativamente al estado clínico del paciente y contribuir a una mayor morbilidad y mortalidad. Objetivo. Revisar y actualizar las diferentes causas de quilotórax neonatal, los criterios diagnósticos y la eficacia y seguridad de las diferentes modalidades terapéuticas, tanto médicas como quirúrgicas. Método. Revisión bibliográfica de los diferentes aspectos relacionados con etiología, fisiopatología, clínica, diagnóstico y tratamiento del quilotórax neonatal. Conclusiones. No existe un algoritmo terapéutico uniforme. La mayoría de los autores abogan por un período inicial de tratamiento médico conservador con medidas nutricionales y somatostatina o análogos y, en los casos de fracaso de éste, tratamiento quirúrgico. Serían necesarios ensayos clínicos prospectivos randomizados con el objetivo de establecer la eficacia y seguridad de la somatostatina y el octreótide. El momento adecuado de indicar la cirugía sigue siendo motivo de controversia

Background. Chylothorax is the most frequent cause of pleural effusion in the neonatal period. The management includes nutritional, medical, and surgical interventions. Although therapeutic algorithms have been suggested, its management is not well established. The best nutritional approach, the effectiveness of the medical agents, and the time and type of surgery have not been defined. We have observed an increasing incidence of chylothorax, specially those cases related with surgical procedures. This condition, when long-standing, may have a profound effect on the patient clinical condition, and may result in significant increase in morbidity and mortality. Objective. To review and update the different causes and diagnostic criteria of neonatal chylothorax, and to evaluate the efficacy and safety of the different therapeutic approaches. Method. We reviewed the medical literature regarding etiology, pathophysiology, clinical features, diagnosis and treatment of neonatal chylothorax. Conclusions. The therapeutic algorithm of neonatal chylothorax is not well established. Most authors suggest an initial conservative treatment that includes nutritional management and pharmacological intervention with somatostatin or octreotide. If medical management fails, surgical intervention must be considered. Randomised prospective trials are necessary to establish the efficacy and safety of somatostatin and octreotide. Controversy exists about the appropriate time to perform surgery

Thyroid function in preterm infants 27-29 weeks of gestational age during the first four months of life: results from a prospective study comprising 80 preterm infants.

AIM: Assessment of thyroid function in preterm neonates (PTN) 27-29 weeks of gestational age. PATIENTS AND METHODS: 80 PTN, gestational age 27 weeks in 24, 28 weeks in 28, and 29 weeks in 28. Neonates were classified as healthy (n=17) or sick (n=63). Measurement of serum TSH, free T4, T4, T3 and rT3 in the mother and in the cord at the time of delivery, and in the infant at 1 hour, 24 hours, 1 week, 3 weeks, and 2 and 4 months of postnatal age. RESULTS: In healthy and sick preterms, TSH values peaked at 1 hour and decreased thereafter. Healthy PTN presented a peak in free T4 values at 24 hours that was not observed in sick neonates. Sick PTN had a lower TSH peak and lower free T4 values at 24 hours and 1 week than healthy ones (p < 0.05). Healthy PTN 27-29 weeks had lower TSH peak at 1 hour and lower free T4, T3 and T4 values during the first 2 months than healthy PTN 30-35 weeks (PTN30-35w) previously evaluated (p < 0.05). However, at all postnatal times healthy preterms had free T4 values above -2 SD of the mean values of healthy PTN30-35w. A wide range of free T4 values was observed in the sick group. Free T4 values above -2 SD of the mean values of healthy PTN30-35w were detected in a high proportion of sick PTN (58.3% at 24 hours, 73.5% at 1 week, 93.9% at 3 weeks, 85.1% at 2 months and 100% at 4 months). CONCLUSIONS: Prematurity and disease influence thyroid function, and consequently thyroid function should be individually assessed in preterms 27-29 weeks of gestation during the first 2 months of life.

Gemelos monocoriales afectos de transfusión feto-fetal: consecuencias a corto y largo plazo / Monochorionic twins with twin-to-twin transfusion syndrome: acute and long-term effects

No disponibleFundamentos y fisiopatología básica. La transfusiónfeto-fetal es una complicación presente aproximadamenteen un 10% de las gestaciones monocoriales. Su origen fisiopatológicose sitúa en la presencia de determinadas conexionesvasculares intraplacentarias que dan lugar a undesequilibrio en el pase de sange de un gemelo al otro.Ello condiciona que uno de los dos gemelos resulte hipovolémico(donante) y el otro hipervolémico (receptor). Loscriterios diagnósticos clásicos (diferencia en el peso y en lahemoglobinemia al nacimiento) ya no son válidos, dadoque en la actualidad el diagnóstico de la transfusión fetofetales exclusivamente ecográfico prenatal.Objetivo. Actualizar la problemática neonatal y pediátrica.Las consecuencias sobre los niños se clasifican en lassiguientes categorías: hidropesía fetal, lesiones cerebrales,problemas propios del gemelo donante, problemas propiosdel feto receptor, presencia de infartos, problemas delgemelo superviviente, trastornos hormonales, prematuridad,mortalidad y neurodesarrollo a largo plazo.Método. Cada categoría es revisada exhaustivamente,mediante un repaso fisiopatológico, una descripción de laincidencia, las implicaciones sobre el manejo en las unidadesde neonatología y un análisis de las principales referenciasbibliográficas.Conclusiones. La población de gemelos afectos detranfusión feto-fetal puede presentar una patología muyvariada, a menudo de conocimiento impreciso, que condicionauna elevada mobimortalidad. La aplicación de lasdiferentes medidas terapéuticas –en especial la ablacióncon láser de las anastomosis placentarias– ha conseguidomejorar su pronóstico, aunque sigue considerándose unapoblación de alto riesgo que requiere un estricto controlobstétrico, una detallada valoración neonatal y un cuidadososeguimiento a largo plazo

Background. Twin-to-twin transfusion syndrome (TTTS)occurs in 10% of monochorionic twin pregnancies, and itresults from the presence of placental vascular anastomosesthat lead to an umbalance of the normal inter-twinblood flow. One fetus becomes hypovolemic (donor twin)whereas the other becomes hypervolemic (recipient twin).The classical diagnostic criteria of TTTS (discordance inbirthweight and hemoglobin concentrations at birth) havenow been replaced by the prenatal ultrasonographicfindings. Objectives. To provide an update on TTTS. The effectsof TTTS on both twins are classified as follows: hydropsfaetalis, brain damage, individual problems for donor andrecipient twins and for the survivor twin, infarctions, hormonaldisturbances, prematurity, early mortality, andeffects on neurodevelopment.Method. A review of the literature is performed, andthe pathophysiology, incidence, and management of TTTSare reviewed.Conclusions. Monochorionic twins with TTTS are at riskof developing multiple problems, which result in highmorbidity and mortality rates. Although better outcomesare currently obtained with prenatal techniques (such asplacental laser surgery) and better postnatal management,this is a high-risk population whose managementinvolves obstetric control and treatment, careful neonatalevaluation and treatment, and a long-term follow-up

Thyroid function in seventy-five healthy preterm infants thirty to thirty-five weeks of gestational age: a prospective and longitudinal study during the first year of life.

Thyroid function was evaluated in 75 healthy preterm infants, 30-35 weeks of gestational age. Serum thyrotropin (TSH), thyroxine (T(4)), triiodothyronine (T(3)), free T(4) (immunochemoluminescence) and reverse triiodothyronine (rT(3)) (radioimmunoassay) were measured in the mother and in the cord at delivery and in the preterm infants at 1 hour, 24 hours, 1 week, 3 weeks, 2 months, 4 months, 6 months, and 12 months of postnatal age. These values were compared to those of healthy full-term infants of the same postnatal age (22 at 24 hours from our hospital and from previously reported data at others times). Mean 24-hour TSH values were significantly lower (p < 0.001) in preterm than in full-term infant populations (12.38 +/- 6.13 microIU/mL versus 22.02 +/- 13.28 microIU/mL); however, all TSH values of preterm infants were in the range of the full-term values. Mean 24-hour free T(4) values were similar in preterm and full-term infants (1.88 +/- 0.46 ng/dL versus 2.01 +/- 0.54 ng/dL) and all preterm infants had free T(4) values within the range of those of full-term infants at 24 hours. Mean T(4) and T(3) values were significantly lower in preterm than in full-term neonates at 1 hour and 24 hours of age. Mean 24-hour rT(3) values were significantly higher in preterm than in full-term newborns. From 1 week onwards, all thyroid function values were in the same range in both populations. In conclusion, individual thyroid function was similar in healthy preterms and full-terms from the first 24 hours of life. Normative data in preterm infants during the first year of life applying the latest luminescence techniques currently used worldwide are reported.

Catalunya, pionera en cirurgia fetal / No disponible

No disponible

Displasia craneofrontonasal asociada a agenesia de cuerpo calloso / Craniofrontonasal displasia associated with agenesis of corpus callosum

Introducción. La displasia craneofrontonasal (DCFN) es una entidad dismorfológica congénita rara, que combina las características clínicas de las craneosinostosis con las de la displasia frontonasal, conformando un síndrome único que no suele comportar retraso mental. La agenesia de cuerpo calloso se asocia preferentemente a la displasia frontonasal simple. Caso clínico. Recién nacida con las características típicas de DCFN asociadas con agenesia de cuerpo calloso. Comentario. la detección de agenesia del cuerpo calloso en un caso de DCFN contribuye a ampliar el espectro de las anomalías del síndrome y plantea incertidumbres sobre su pronóstico mental (AU)

Introduction. Craniofrontonasal dysplasia (CFND) is a dismorphological entity, congenital and rare, which combines the clinical characteristics of craniosynostosis with those of frontonasal dysplasia, making up a unique syndrome which normally does not involve mental retardation. Agenesis of corpus callosum is preferably associated with simple frontonasal dysplasia. Case report. Newborn with the typical features of CFND associated with agenesis of corpus callosum. Comment. The detection of agenesis of corpus callosum in a case of CFND contributes to broaden the spectrum of the syndrome’s anomalies and raises uncertainty about its mental prognosis (AU)

Evolución de la sepsis perinatal por Escherichia coli en la era de la profilaxis del estreptococo del grupo B / Evolution of perinatal Escherichia coli disease in the era of group B Streptococcus prophylaxis

FUNDAMENTO: Caracterizar la sepsis perinatal precoz por Escherichia coli y analizar su posible correlación con la implantación de la profilaxis del estreptococo del grupo B (EGB). PACIENTES Y MÉTODO: Entre 1994 y 2000, 24 neonatos nacidos en nuestro centro fueron diagnosticados de sepsis perinatal por E. coli; 12 procedían de madres cuyo embarazo fue controlado en nuestro centro y 12 de madres remitidas poco antes del parto. Además se diagnosticaron otras tres sepsis perinatales por E. coli en niños remitidos con posterioridad a su nacimiento. RESULTADOS: La incidencia anual no cambió significativamente (riesgo relativo [RR] 1,065; intervalo de confianza [IC] del 95 por ciento, -0,873 a 1,301; p = 0,533), oscilando del 0,6 en 1994 al 1,7 en 1997 y al 0,5 en 2000. El 92 por ciento de las madres presentaron factores de riesgo obstétrico: el 68 por ciento parto prematuro (media: 32,9 semanas; mediana: 32), el 64 por ciento rotura prolongada de membrana (media: 184 h; mediana: 44), y el 56 por ciento fiebre intraparto. El 12 por ciento de las gestantes recibieron ampicilina intraparto como profilaxis de la sepsis por EGB y el 80 por ciento antibioterapia: 6 como profilaxis de la rotura de membranas, 6 como tratamiento de su infección urinaria y 8 como tratamiento de una posible corioamnionitis. El 81 por ciento de E. coli aislados en los neonatos fueron resistentes a la ampicilina. No se ha encontrado relación entre E. coli resistente a ampicilina y prematuridad (p = 0,57), rotura de membranas (p = 0,63), fiebre intraparto (p = 0,24) o fallecimiento (p = 0,53). CONCLUSIONES: Estos resultados sugieren que la sepsis perinatal por E. coli no está relacionada con la aplicación de medidas profilácticas contra EGB, sino con la prematuridad, la prolongación del embarazo en la rotura prematura de membranas y exposición a la antibioterapia que todo ello comporta (AU)