Salud infantil y cooperación internacional: una aproximación pediátrica / Child health and international cooperation: A paediatric approach

La cooperación internacional al desarrollo en salud infantil despierta un especial interés en el ámbito pediátrico. En los últimos decenios se han ido revelando nuevas evidencias en torno al análisis de los factores vinculados a la morbimortalidad en las primeras etapas de la vida en los países menos adelantados. Este mayor conocimiento del origen de los problemas de salud y las posibles respuestas en forma de intervenciones con impacto determina la necesidad de su divulgación entre los profesionales de Pediatría interesados. Se hacen necesarios mayores esfuerzos para profundizar en materias relacionadas con salud global infantil y favorecer el que los pediatras conozcan y participen en estos procesos. Este artículo pretende ofrecer un acercamiento pediátrico social hacia los elementos relacionados con cooperación internacional y salud infantil

The international development cooperation in child health arouses special interest in paediatric settings. In the last 10 10 years or so, new evidence has been presented on factors associated with morbidity and mortality in the first years of life in the least developed countries. This greater knowledge on the causes of health problems and possible responses in the form of interventions with impact, leads to the need to disseminate this information among concerned professional pediatricians. Serious efforts are needed to get a deeper insight into matters related to global child health and encourage pediatricians to be aware and participate in these processes. This article aims to provide a social pediatric approach towards international cooperation and child health-related matters

[Child health and international cooperation: A paediatric approach]. / Salud infantil y cooperación internacional: una aproximación pediátrica.

The international development cooperation in child health arouses special interest in paediatric settings. In the last 10 10 years or so, new evidence has been presented on factors associated with morbidity and mortality in the first years of life in the least developed countries. This greater knowledge on the causes of health problems and possible responses in the form of interventions with impact, leads to the need to disseminate this information among concerned professional pediatricians. Serious efforts are needed to get a deeper insight into matters related to global child health and encourage pediatricians to be aware and participate in these processes. This article aims to provide a social pediatric approach towards international cooperation and child health-related matters.

[Quality evaluation of a neuro-development follow-up program of very low birthweight infants]. / Valoración de la calidad de un programa de seguimiento del neurodesarrollo de prematuros de muy bajo peso al nacimiento.

INTRODUCTION: Advances in perinatology have been associated with improved survival of very low birth weight (VLBW;<1500 g) infants. These children have an increased risk of future neurological and development handicaps. A set of quality indicators have been recommended for the neurodevelopment follow-up programs in this group of patients. AIM: To analyze our neurodevelopment follow-up program according to these quality of care indicators in 5 post-discharge follow-up areas: general care; physical health; vision, hearing, speech and language; developmental and behaviour assessment; and psychosocial issues. PATIENTS AND METHODS: Fifty-one VLWB patients born in 2000 who have completed our 6-year follow-up program have been retrospectively studied. The agreement between our program and the standard of quality is evaluated. RESULTS: A copy of a discharge summary of the patient's neonatal course is present in the medical record in 92% of the cases. The inclusion of clinical data and general medical aspects in the medical summary is heterogeneous. Somatometric evaluation for the first two years of age is always present in a filled-in graphic. The international classification of the retinopathy of the preterm (RDP) is used in 100% of the patients. An ophthalmologic examination for RDP is performed in 72% (37/51) of the infants before hospital discharge; of the other 28%, only in 6 patients the date of the outpatient examination is present. Specific evaluations and interventions are performed within the recommended period of time in most of the children with suspected or neurosensory handicaps. More than ninety per cent of the patients are referred to the neurodevelopment specialist and most of them go to the visit (90.2% between 9 and 15 months and 78.4% between 21 and 30 months). Recommendations for a psycho-educational assessment are followed in the extremely premature (BW<1000 g and/or 28 weeks of gestational age) children. The number of patients who follow the program decreases with time. Psychosocial evaluation does not usually appear in the medical records of the patients. CONCLUSION: We have a good adherence to most of the recommended indicators in our follow-up program. The evaluation of these indicators is a useful tool to analyze the quality of a developmental follow-up program and to improve it.

Valoración de la calidad de un programa de seguimiento del neurodesarrollo de prematuros de muy bajo peso al nacimiento / Quality evaluation of a neuro-development follow-up program of very low birthweight infants

Introducción: Los avances en la perinatología condicionan un aumento del número de recién nacidos de muy bajo peso (RNMBP) (<1.500g) que sobreviven, con el consiguiente riesgo futuro de presentar problemas en el desarrollo. Se han propuesto unos indicadores de calidad para evaluar los programas de seguimiento en este grupo de pacientes. Objetivo: Analizar el cumplimiento de estos indicadores en el programa de seguimiento del neurodesarrollo para los RNMBP de este centro. Material y métodos: Estudio retrospectivo descriptivo de los 51 RNMBP nacidos en el 2000 e incluidos en el programa de seguimiento hasta los 6 años de edad. Se evaluó el cumplimiento de los indicadores en las siguientes áreas: inclusión de datos en la epicrítica; aspectos médicos generales; evaluación visual, auditiva, de la comunicación y del lenguaje; evaluación del desarrollo y del comportamiento; valoración psicosocial. Resultados: Se adjuntó la epicrítica a la historia clínica en el 92% de los casos; el cumplimiento de los datos médicos generales fue heterogéneo. La valoración somatométrica durante los primeros 2 años quedó reflejada en una gráfica. Se utilizó siempre la clasificación internacional de retinopatía. A 37 (72%) de los 51 pacientes se les realizó el fondo de ojo durante el ingreso; sólo en 6 de los 14 restantes se explicitó la fecha de la visita ambulatoria. Se cumplió con los plazos máximos recomendados para la valoración por los especialistas cuando se detectó algún déficit. Se envió a más del 90% de los pacientes al neuropediatra y la gran mayoría acudió a la consulta (el 90,2% entre los 9 y los 15 meses, y el 78,4% entre los 21 y los 30 meses). Se cumplió con las recomendaciones de una valoración psicológica sistemática en los prematuros extremos. La evaluación psicosocial quedó poco reflejada en la historia clínica. Conclusiones: Este programa de seguimiento para RNMBP cumple con la mayoría de los indicadores de calidad propuestos. El análisis de éstos es una herramienta muy útil para evaluar y mejorar los programas de seguimiento para este grupo de pacientes (AU)

Introduction: Advances in perinatology have been associated with improved survival of very low birth weight (VLBW;<1500g) infants. These children have an increased risk of future neurological and development handicaps. A set of quality indicators have been recommended for the neurodevelopment follow-up programs in this group of patients. Aim: To analyze our neurodevelopment follow-up program according to these quality of care indicators in 5 post-discharge follow-up areas: general care; physical health; vision, hearing, speech and language; developmental and behaviour assesment; and psychosocial issues. Patients and methods: Fifty-one VLWB patients born in 2000 who have completed our 6-year follow-up program have been retrospectively studied. The agreement between our program and the standard of quality is evaluated. Results: A copy of a discharge summary of the patient's neonatal course is present in the medical record in 92% of the cases. The inclusion of clinical data and general medical aspects in the medical summary is heterogeneous. Somatometric evaluation for the first two years of age is always present in a filled-in graphic. The international classification of the retinopathy of the preterm (RDP) is used in 100% of the patients. An ophthalmologic examination for RDP is performed in 72% (37/51) of the infants before hospital discharge; of the other 28%, only in 6 patients the date of the outpatient examination is present. Specific evaluations and interventions are performed within the recommended period of time in most of the children with suspected or neurosensory handicaps. More than ninety per cent of the patients are referred to the neurodevelopment specialist and most of them go to the visit (90.2% between 9 and 15 months and 78.4% between 21 and 30 months). Recommendations for a psycho-educational assessment are followed in the extremely premature (BW<1000g and/or 28 weeks of gestational age) children. The number of patients who follow the program decreases with time. Psychosocial evaluation does not usually appear in the medical records of the patients. Conclusion: We have a good adherence to most of the recommended indicators in our follow-up program. The evaluation of these indicators is a useful tool to analyze the quality of a developmental follow-up program and to improve it (AU)

Asfixia perinatal: relación entre afectación cardiovascular, neurológica y multisistémica / Perinatal asphyxia: relationship between cardiovascular, neurological and multisystem involvement

Objetivo: Conocer el perfil epidemiológico de los neonatos a término con asfixia perinatal; relacionarlo con la existencia y el grado de encefalopatía hipóxico-isquémica (EHI); valorar la frecuencia de afectación cardiovascular (ACV) y relacionarla con la afectación neurológica y extra neurológica; determinar la relación entre ACV y factores etiopatogénicos de la asfixia. Material y métodos: Estudio retrospectivo de los pacientes que cumplieron criterios de asfixia perinatal entre enero de2000 y diciembre de 2004. Resultados: Se incluyeron 295 pacientes. Un 39% cumplía criterios de EHI: leve 23,1%; moderada 8,8% y grave 7,1%. La afectación pulmonar se dio en un 35,9%, la renal en un 18%,presentaron hipocalcemia un 18,6%, trombopenia un 13,9% y coagulopatía un 21,4%. Un 14,2% de los pacientes presentaron ACV cierta (alteración enzimática y/o ecocardiográfica con shock y/o hipotensión arterial), y un 15,6% ACV probable (sólo hipotensión arterial y/o shock). La existencia de ACV se relaciona con la presencia de EHI y, por consiguiente, con alteraciones en el electroencefalograma y de neuroimagen. Asi mismo,la existencia de ACV aumenta la presencia de afectación extraneurológica. También se constata que los pacientes con ACV presentan más frecuentemente acidosis al ingreso y acidosis metabólica persistente durante su evolución. Conclusiones: La ACV se correlaciona con la existencia y la gravedad de las manifestaciones neurológicas y con la afectación de otros órganos y sistemas, en especial con la acidosis metabólica persistente (AU)

Objective: The aim of this study is to review epidemiological data concerning asphyxia in full-term newborn infants and the relationship between this data and the existence and severity of hypoxic-ischemic encephalopathy (HIE). The authors also evaluate the incidence of cardiovascular involvement (CVI) and the relationship between this condition and neurological and extraneurological involvement. A third objective was to determine the relationship between cardiovascular involvement and the etiological and pathological factors of asphyxia. Materials and methods: A retrospective review of all the asphyxiated term neonates born between January 2000 and December2004. Results: A total of 295 patients were included. Thirty-nine percent were diagnosed as having HIE: mild, 23.1%; moderate8.8%; and severe, 7.1%. Pulmonary involvement was detected in 35.9% of the patients, renal involvement in 18%, hypocalcemia in 18.6% of cases; thrombocytopenia in 13.9% and coagulopathy in 21.4%. Forty-two patients had “proven” CVI (abnormal enzyme levels and/or echocardiographic findings in patients with hypotension and/or shock) and 46 had “possible” CVI (only hypotension and/or shock). CVI is associated with the presence of HIE and, consequently, with abnormal electroencephalographic and neuroimaging findings. Moreover, CVI increases the prevalence of extraneurological involvement. It was also observed that, in patients with CVI, there is a higher incidence of acidosis at admission and persistent metabolic acidosis throughout the course of the disease. Conclusions: CVI correlates with the existence and severity of neurological and extraneurological involvement, and especially with persistent metabolic acidosis (AU)

[Reduced postnatal growth in very low birth weight newborns with GE < or = 32 weeks in Spain]. / Restricción posnatal del crecimiento en recién nacidos españoles de muy bajo peso con edad gestacional menor o igual a 32 semanas.

AIM: To analyze postnatal growth restriction in a cohort of very low birth weight (VLBW) infants with gestational age < or = 32 weeks in 55 Spanish neonatal units (SEN 1500 Network) during 2002 and 2003. METHODS: Weight, length and head circumference were recorded at birth, and at discharge. Weight was also recorded at 28 days postnatal, and 36 weeks of postmenstrual age. Growth restriction was measured as the shift in weight z score from birth to 28th day. RESULTS: The study included 2317 VLBW infants. Weight z score at birth, 28 days, 36 weeks of postmenstrual age and discharge were: -0.66 +/- 1.3, -2.54 +/- 1.35, -3.12 +/- 1.7, -1.56 +/- 1.1, respectively. Length z score at birth and at discharge were: -0.88 +/- 1.8, and -1.97 +/- 1.56. Head circumference z score at birth and at discharge: -0.83 +/- 1.87, and -0.60 +/- 1.96. Prenatal steroids, gestational age, place of birth, type of hospital, CRIB score, symptomatic patent ductus arteriosus and late-onset bacterial sepsis were related with the shift in weight z score at 28 days (multiple linear regression), but explained very little (14 %) of his change. Weight and length at discharge were under the 10th percentile in 77 % and 80 % of the infants, respectively. CONCLUSIONS: VLBW infants < or = 32 GA suffer postnatal growth restriction with respect to intrauterine growth pattern, which is more relevant in the first 28 days of life, in patients with more severe illnesses, and differs among neonatal units. Perinatal and neonatal items evaluated are poorly related with restriction.

Restricción posnatal del crecimiento en recién nacidos españoles de muy bajo peso con edad gestacional menor o igual a 32 semanas / Reduced postnatal growth in very low birth weight newborns with GE <= 32weeks in Spain

Objetivo: Analizar la restricción posnatal del crecimiento en una cohorte de recién nacidos de muy bajo peso (RNMBP) y de no más de 32 semanas de gestación de 55 unidades de neonatología españolas (SEN 1500). Métodos: Se estudiaron peso, longitud y perímetro craneal al nacer y en el momento del alta. El peso se registró también a los 28 días de vida y 36 semanas de edad posmenstrual. Se analizó la relación entre restricción de crecimiento y datos perinatales y neonatales. Resultados: Se incluyeron 2.317 niños. La puntuación Z de peso al nacer, a los 28 días, a las 36 semanas de edad posmenstrual y al alta fue, respectivamente, ­0,66 ± 1,3, ­2,54 ± 1,35, ­3,12 ± 1,7, ­1,56 ± 1,1. La puntuación Z de longitud al nacer y al alta fue ­0,88 ± 1,8 y ­1,97 ± 1,56, respectivamente; la puntuación Z del perímetro craneal al nacer fue ­0,83 ± 1,87 y en el momento del alta ­0,60 ± 1,96. Los factores relacionados con el grado de restricción de peso a los 28 días fueron: corticoides prenatales, edad gestacional, lugar de nacimiento, tipo de hospital, puntuación CRIB, ductus arterioso persistente sintomático y sepsis tardía. Estos factores sólo explicaron el 14 % de la variabilidad del grado de restricción. El peso y la longitud al alta fueron inferiores a P10 en el 77 % y el 80 % de los RNMBP, respectivamente. Conclusiones: Los RNMBP de no más de 32 semanas de gestación durante su estancia en las unidades de neonatología sufren una "restricción de crecimiento" respecto al patrón intrauterino. Esta restricción ocurre sobre todo en los primeros 28 días de vida y es diferente en distintas unidades españolas. Las variables estudiadas explican en escasa medida este fenómeno (AU)

Aim: To analyze postnatal growth restriction in a cohort of very low birth weight (VLBW) infants with gestational age <= 32 weeks in 55 Spanish neonatal units (SEN 1500 Network) during 2002 and 2003. Methods: Weight, length and head circumference were recorded at birth, and at discharge. Weight was also recorded at 28 days postnatal, and 36 weeks of postmenstrual age. Growth restriction was measured as the shift in weight z score from birth to 28th day. Results: The study included 2317 VLBW infants. Weight z score at birth, 28 days, 36 weeks of postmenstrual age and discharge were: ­0.66 ± 1.3, ­2.54 ± 1.35, ­3.12 ± 1.7, ­1.56 ± 1.1, respectively. Length z score at birth and at discharge were: ­0.88 ± 1.8, and ­1.97 ± 1.56. Head circumference z score at birth and at discharge: ­0.83 ± 1.87, and ­0.60 ± 1.96. Prenatal steroids, gestational age, place of birth, type of hospital, CRIB score, symptomatic patent ductus arteriosus and late-onset bacterial sepsis were related with the shift in weight z score at 28 days (multiple linear regression), but explained very little (14 %) of his change. Weight and length at discharge were under the 10th percentile in 77 % and 80 % of the infants, respectively. Conclusions: VLBW infants <= 32 GA suffer postnatal growth restriction with respect to intrauterine growth pattern, which is more relevant in the first 28 days of life, in patients with more severe illnesses, and differs among neonatal units. Perinatal and neonatal items evaluated are poorly related with restriction (AU)

Limitaciones de la procalcitonina como marcador único de sepsis neonatal de origen nosocomial / Limitations of procalcitonin as single marker of nosocomial neonatal sepsis

Introducción: Recientemente se ha sugerido que la procalcitonina (PCT) tiene capacidad discriminativa en el diagnóstico de sepsis neonatal. El objetivo de este estudio prospectivo multicéntrico es evaluar la utilidad de la PCT como marcador de sepsis neonatal de origen nosocomial. Pacientes y métodos: Se incluyeron 100 neonatos con sospecha de sepsis nosocomial de entre 4 y 28 días de vida ingresados en los servicios de neonatología de 13 hospitales de tercer nivel de España durante un período de 1 año. Se midió la concentración de PCT mediante análisis inmunoluminométrico. Se calculó la eficacia diagnóstica de la PCT en el momento de la sospecha de infección, a las 12-24 h y a las 36-48 h. Resultados: Se diagnosticaron 61 casos de sepsis nosocomial. Las concentraciones de PCT fueron superiores en los casos de sepsis nosocomial frente a los neonatos con sospecha de sepsis no confirmada. Los neonatos con sepsis por estafilococos coagulasa-negativos mostraron niveles de PCT más bajos que aquellos con sepsis nosocomial por otros agentes. Los puntos de corte óptimo para la PCT de acuerdo con las curvas ROC fueron 0,59 ng/mL en el momento de la sospecha de infección (sensibilidad 81,4%, especificidad 80,6%), 1,34 ng/mLa las 12-24 h (sensibilidad 73,7%, especificidad 80,6%) y 0,69 ng/mL a las 36-48 h (sensibilidad 86,5%, especificidad 72,7%) para el diagnóstico de sepsis de origen nosocomial. Conclusiones: La PCT mostró una moderada capacidad diagnóstica para la sepsis neonatal de origen nosocomial desde el momento de la sospecha de infección. Aunque por sí sola no sería suficientemente fiable, podría ser útil como parte de un chequeo de sepsis más completo (AU)

Background: It has recently been suggested that serum procalcitonin (PCT) is of value in the diagnosis of neonatal sepsis, with varying results. The aim of this prospective multicenter study was to assess the usefulness of PCT as a marker of neonatal sepsis of nosocomial origin. Methods: One hundred infants aged between 4 and 28 days of life admitted to the Neonatology Services of 13 acutecare teaching hospitals in Spain over 1-year with clinical suspicion of neonatal sepsis of nosocomial origin were included in the study. Serum PCT concentrations were determined by a specific immunoluminometric assay. The reliability of PCT for the diagnosis of nosocomial neonatal sepsis at the time of suspicion of infection and at 12-24 h and 36-48 h after the onset of symptoms was calculated. Results: The diagnosis of nosocomial sepsis was confirmed in 61 neonates. Serum PCT concentrations were significantly higher at initial suspicion and at 12–24 h and 36- 48 h after the onset of symptoms in neonates with confirmed sepsis than in neonates with clinically suspected but not confirmed sepsis. Optimal PCT thresholds according to ROC curves were 0,59 ng/mL at the time of suspicion of sepsis (sensitivity 81,4%, specificity 80,6%); 1,34 ng/mL within 12-24 h of birth (sensitivity 73,7%, specificity 80,6%), and 0,69 ng/mL within 36-48 h of birth (sensitivity 86,5%, specificity 72,7%). Conclusions: Serum PCT concentrations showed a moderate diagnostic reliability for the detection of nosocomial neonatal sepsis from the time of suspicion of infection. PCT is not sufficiently reliable to be the sole marker of sepsis, but would be useful as part of a full sepsis evaluation (AU)

[Inborn errors of metabolism with neurological symptomathology in the neonatal period]. / Errores congénitos del metabolismo con manifestaciones neurológicas de presentación neonatal.

INTRODUCTION: Congenital metabolic diseases are considered as rare diseases because of their low incidence and their clinical symptoms at onset. Sometimes they can just begin in the neonatal period. Their progressive knowledge and the availability of specific and sensitive biochemical procedures allow us to diagnose many congenital metabolic diseases, which were not recognized some years ago. PATIENTS AND METHODS: We reviewed the 52 patients with congenital metabolic diseases diagnosed for the last 25 years in our centre, evaluating the clinical presentation, neurological symptoms, complementary exams and clinical evolution. RESULTS: The mean age at onset of symptoms was 5 days and the mean age at diagnosis was 88 days of age. We considered a first group of 36 patients with inborn errors of intermediary metabolism, in whom hypotonia, weight loss and seizures are the main symptoms. The second group was composed of 8 patients with defective energy metabolism, who showed abnormal respiratory rhythm and hypotonia. Finally, we considered 8 patients with diseases of the complex molecules, who presented with hypotonia and cataracts as common symptoms at onset. The more common neurological symptoms in this period were hypotonia (60%), sensorial deficit (35%) and refractory seizures (23%). The complementary laboratory tests in the first phases of the diseases allowed us to suspect a congenital metabolic disease especially among intermediary and energy defects. EEG registration and CSF samples were important to diagnose some inborn errors of intermediary metabolism. In the first steps, the neuroimaging was less orientative, even if it allow the exclusion of other diseases. More than half of the patients with inborn errors of metabolism with onset in the neonatal period died within the first year of life. CONCLUSION: It is really important to suspect these diseases in the neonatal period so as to achieve an early diagnosis and therapy which may reduce the morbimortality.

Errores congénitos del metabolismo con manifestaciones neurológicas de presentación neonatal / Inborn errors of metabolism with neurological symptomathology in the neonatal period

Introducción. Los errores congénitos del metabolismo (ECM) se consideran dentro del grupo de las enfermedades raras por su baja incidencia y su forma de presentación. Pueden manifestarse ya en el período neonatal. Los progresos en su conocimiento y el disponer de métodos bioquímicos más precisos permiten diagnosticar muchos ECM que hace un tiempo pasaban desapercibidos. Pacientes y métodos. Hemos revisado los 52 pacientes con ECM de debut neonatal diagnosticados en los últimos 25 años en nuestro centro y hemos valorado su forma de presentación, sus manifestaciones neurológicas, los exámenes complementarios y su evolución. Resultados. La edad media de inicio de los síntomas fue de 5 días, y la de confirmación del diagnóstico, de 88 días. Destacamos un primer grupo formado por 36 pacientes con defectos del metabolismo intermediario, en los que predominaba la hipotonía, el estancamiento ponderal y las convulsiones; un segundo grupo formado por ocho pacientes con defectos del metabolismo energético, que manifestaban trastornos del ritmo respiratorio e hipotonía, y, finalmente, 8 pacientes dentro del subgrupo de los trastornos de las moléculas complejas, en los que destacaban la hipotonía y las cataratas como síntomas más frecuentes de debut. Los síntomas neurológicos más comunes en este período fueron la hipotonía (60%), la afectación del sensorio (35%) y las convulsiones rebeldes (23%). Los exámenes complementarios de laboratorio en las primeras fases de la enfermedad orientaron hacia un ECM especialmente en los trastornos del metabolismo intermediario y energético. Por su parte, el registro electroencefalográfico y el estudio del LCR fueron importantes para el diagnóstico en muchos trastornos del metabolismo intermediario. La neuroimagen inicial fue menos orientativa, pero permitió descartar otras patologías. Más de la mitad de los pacientes con ECM de debut neonatal habían fallecido ante de los 12 meses de vida. Conclusión. Es importante sospechar estas enfermedades en el período neonatal para mejorar la precocidad diagnóstica y terapéutica y reducir la morbimortalidad

Introduction. Congenital metabolic diseases are considered as rare diseases because of their low incidence and their clinical symptoms at onset. Sometimes they can just begin in the neonatal period. Their progressive knowledge and the availabilityof specific and sensitive biochemical procedures allow us to diagnose many congenital metabolic diseases, which were not recognized some years ago. Patients and methods. We reviewed the 52 patients with congenital metabolic diseases diagnosed for the last 25 years in our centre, evaluating the clinical presentation, neurological symptoms, complementary exams and clinical evolution. Results. The mean age at onset of symptoms was 5 days and the mean age at diagnosis was 88 days of age. We considered a first group of 36 patients with inborn errors of intermediary metabolism, in whom hypotonia, weight loss and seizures are the main symptoms. The second group was composed of 8 patients with defective energy metabolism, who showed abnormal respiratory rhythm and hypotonia. Finally, we considered 8 patients with diseases of the complex molecules, who presented with hypotonia and cataracts as common symptoms at onset. The more common neurological symptoms in this period were hypotonia (60%), sensorial deficit (35%) and refractory seizures (23%). The complementary laboratory tests in the first phases of the diseases allowed us to suspect a congenital metabolic disease especially among intermediary and energy defects. EEG registration and CSF samples were important to diagnose some inborn errors of intermediary metabolism. In the first steps, the neuroimaging was less orientative, even if it allow the exclusion of other diseases. More than half of the patients with inborn errors of metabolism with onset in the neonatal period died within the first year of life. Conclusion. It is really important to suspect these diseases in the neo-natal period so as to achieve an early diagnosis and therapy which may reduce the morbimortality

Diagnóstico prenatal de la ectasia piélica. Evolución posnatal / Prenatal diagnosis of pyelectasis

Los objetivos de este estudio son conocer la prevalencia de recién nacidos con diagnóstico prenatal de ectasia piélica, determinar la frecuencia de sus distintos grados y analizar su evolución posterior. Se analizaron retrospectivamente las historias clínicas de los pacientes diagnosticados de ectasia piélica por ecografía prenatal. Se detectó ectasia piélica en la ecografía prenatal en un 6,4 por ciento de recién nacidos vivos (n= 54), con claro predominio masculino (un 80 por ciento). La mayoría de las ectasias detectadas fueron de grado leve. Una tercera parte de las ectasias diagnosticadas prenatalmente se normalizaron a los 6 meses de vida. Se detectó una baja frecuencia de enfermedad asociada: 4 casos de reflujo vesicoureteral, 3 de infección del tracto urinario y 3 que precisaron tratamiento quirúrgico (AU)