[Neurological newborn in our center and follow-up]. / El recién nacido neurológico en nuestro medio y su seguimiento.

INTRODUCTION: The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the joint efforts of neonatologists and neuropaediatricians are therefore essential. DEVELOPMENT: We review the welfare work and demand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants. CONCLUSIONS: The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and for caring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement early intervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes.

El recién nacido neurológico en nuestro medio y su seguimiento / Neurological newborn in our center and follow-up

Introducción. Los avances producidos en la asistencia perinatal han cambiado la epidemiología de las enfermedades neurológicas durante el período neonatal. Con la disminución de la mortalidad neonatal nos venimos enfrentando a un elevado y creciente número de pacientes afectos de enfermedades discapacitantes o con riesgo de padecerlas, y, por ello, es imprescindible un seguimiento prolongado y la labor conjunta de neonatólogos y neuropediatras. Desarrollo. Revisamos la labor asistencial y demanda de la asistencia del recién nacido neurológico en nuestro servicio, morbilidad neurológica perinatal,funcionamiento de la policlínica de seguimiento, y comunicamos algunos resultados de nuestra experiencia en el seguimiento de neonatos de riesgo. Conclusiones. La demanda de asistencia neurológica neonatal va aumentando, lo que es importanteconocer para una mejor planificación de los recursos sanitarios y la atención de los pacientes. En nuestro medio, la prematuridad y la asfixia son los principales factores perinatales de secuelas neurológicas, cuya incidencia global es similar a la de otros trabajos, con una alta proporción de secuelas graves. Los programas de seguimiento deben ser rentables, a través de una mejor selección de la población de riesgo que se debe controlar y de la coordinación con los pediatras de atención primaria. La detección precoz de las deficiencias es esencial para una intervención temprana, a lo que contribuye una serie de recomendaciones dirigidas a los profesionales y familias, así como una mejor coordinación de los diferentes grupos pluridisciplinarios en los programas de prevención y atención necesaria

Introduction. The progress made in perinatal health care in recent years has changed the epidemiology of neurological diseases during the neonatal period. The reduction in neonatal mortality has been accompanied by an increasingly large number of patients suffering from disabling diseases or with a risk of suffering from them; a prolonged follow-up and the jointefforts of neonatologists and neuropaediatricians are therefore essential. Development. We review the welfare work anddemand for health care for newborn infants with neurological disorders in our service, as well as perinatal neurological morbidity, the functioning of the follow-up outpatients department, and we also report some of the findings from our experience in following up high-risk newborn infants. Conclusions. The demand for neonatal health care is increasing, and it is important to take this into account so as to be able to plan better strategies for the use of health care resources and forcaring for patients. In our population, preterm delivery and asphyxia are the chief perinatal factors leaving neurological sequelae, with an overall incidence that is similar to that reported in other research and a high proportion of severe sequelae. The follow-up programmes must be made cost-effective by better selection of the high risk population to be monitored and coordination with primary care paediatricians. Early detection of the deficits is essential to be able to implement earlyintervention, and this can be aided by a series of recommendations aimed at professionals and relatives, as well as by improved coordination between the different multidisciplinary groups involved in prevention and care programmes

Síndrome de «cri du chat». Comunicación de un nuevo caso y revisión / Cri du chat syndrome: report of a new case and review

El síndrome de cri du chat, o monosomía 5p-, es una rara anomalía genética debida a la deleción de un segmento del brazo corto del cromosoma 5, que muestra una gran variabilidad fenotípica y citogenética. Su incidencia varía de 1/15.000 a 1/50.000 recién nacidos vivos, aunque es posible que su frecuencia sea mayor. Se comunica un nuevo caso neonatal con algunas de las características fenotípicas del síndrome, con una deleción en 5p15.2 por translocación materna, que precisó técnicas moleculares para su confirmación; asimismo, se revisan los aspectos clínicos y citogenéticos más interesantes de esta afección

Cri-du-chat syndrome, or monosomy 5p-, is an uncommon genetic anomaly, caused by the deletion of a segment of the short arm of chromosome 5, that exhibits a wide phenotypic and cytogenetic variability. The incidence ranges from 1/15,000 to 1/50,000 live-born infants, although the frequency may be higher. We report the case of a newborn infant with some of the phenotypic characteristics associated with the syndrome and a deletion in 5p15.2 due to a maternal translocation, which required confirmation by molecular techniques. We also review the more interesting clinical and cytogenetic aspects of this condition

Reordenamientos subteloméricos complejos en un síndrome de Wolf-Hirschhorn familiar / Complex subteloremic rearrangements in familial Wolf-Hirschhorn syndrome

Presentamos el caso de una recién nacida, estudiada por un fenotipo peculiar con cariotipo normal. Se realizó un análisis genético de las regiones subteloméricas mediante la técnica MLPA( multiplex ligation-dependent probe amplification) y se confirmaron los hallazgos mediante hibridación in situ fluorescente(FISH). Se detectó un reordenamiento de estas regiones en los cromosomas 4 y 20 de manera que la paciente presentaba una deleción en 4p y una amplificación en 20p, responsable la primera de ellas del síndrome clínico de Wolf-Hirschhorn. En el estudio familiar se encontró un reordenamiento subtelomérico balanceado en el padre de la niña y en la hermana del padre, cuya hija resultó también estar afectada por dicho síndrome

We report the case of a girl who presented a peculiar phenotype at birth, with a normal karyotype. Genetic analysis of the subtelomeric regions was performed using multiplex ligation-dependent probe amplification (MLPA) and the findings were confirmed by fluorescents in situ hybridisation (FISH). A rearrangement of these regions was detected in chromosomes 4 and 20, there being a 4p deletion, which is responsible for Wolf-Hirschhorn syndrome, and an amplification of 20p. In the family study, we found a balanced subtelomeric rearrangement in the girl´s father and in the father´s sister, whose daughter was also found to be affected by the syndrome

[Intracraneal hemorrhage caused by neonatal alloimmune thrombocytopenia. Report of a case and review]. / Hemorragia intracraneal por trombopenia neonatal aloinmune. Comunicación de un caso y revisión.

INTRODUCTION: Neonatal alloimmune thrombocytopenia (NAT) is due to the transplacental transfer of circulating maternal alloantibodies developed against fetal platelet antigens inherited from the father. Intracranial hemorrhage occurs in 15-30% of the cases, and very important neurological sequelaes can be due to it. CASE REPORT: We present the clinical and immunohematologic findings of a case of severe NAT that had two siblings who died by this illness. In the 31st week of gestation an intracranial hemorrhage is detected by echography, the birth was by caesarean section. Apgar score of 8 and 9, it wasn't necessary reanimation procedures. Cutaneous purpura and pallor were presented since birth. Neonatal complete blood count showed a platelet count of 6,000/mm3 (whereas maternal blood count was normal), haemoglobin of 8.8 g/dL and hematocrit of 26.1%, without other biological alterations. In maternal blood alloantibodies antiHPA-1a were detected, being the father homozigous for 1a/1a and the mother homozigous for 1b/1b. The patient was treated with transfusions, endovenous gammaglobulin and corticosteroids and his condition improved. CONCLUSIONS: Intraparenchymatous hemorrhage is an uncommon pathology in neonates, but when this occurs it's obligated to rule out a coagulation inherited illness, NTA especially, because of its prevalence and potentially serious neurological sequelaes, sometimes having a good neurological development. Prevention, early treatment and neuroimaging studies should be done in all newborn babies with alloimmune thrombocytopenia even when no neurological clinic is seen.

Hemorragia intracraneal por trombopenia neonatal aloinmune. Comunicación de un caso y revisión / Intracraneal hemorrhage caused by neonatal alloinmune thrombocytopenia. Report of a case and review

Introducción. La trombopenia neonatal aloinmune (TNA)se debe al paso de aloanticuerpos maternos dirigidos contra losantígenos plaquetarios fetales heredados del padre. En un 15-30%de los casos se produce hemorragia cerebromeníngea que puedeconducir a secuelas neurológicas importantes. Caso clínico. Sedescribe un caso de TNA en un recién nacido con antecedentes dedos hermanos fallecidos por el mismo motivo. A las 31 semanas sedetecta por ecografía hemorragia cerebral intraparenquimatosa yse efectúa parto por cesárea. Apgar de 8 y 9, no precisa maniobrasde reanimación. El examen físico revelaba desde el nacimientopúrpura cutánea generalizada y palidez, y el hemograma, una plaquetopeniagrave de 6.000/mm3; el recuento de la madre es normal,hemoglobina de 8,8 g/dL y hematocrito de 26,1%, sin otrasalteraciones biológicas destacables. En la sangre materna se detectaronaloanticuerpos de especificidad anti-HPA-1a; el padre eshomocigoto para 1a/1a, y la madre, para 1b/1b. Recibió transfusionesde plaquetas, así como inmunoglobulina endovenosa y corticoterapia,y evoluciona favorablemente. Conclusiones. La hemorragiaintracraneal parenquimatosa es una patología neonatal pocofrecuente, lo que obliga siempre a descartar un trastorno congénitode la coagulación, especialmente una TNA por su frecuencia ypotencial gravedad; en ocasiones puede tener una buena evoluciónneurológica. Es fundamental su prevención y tratamiento precoz yla realización de estudios de imagen, aun en ausencia de clínicaneurológica

Introduction. Neonatal alloimmune thrombocytopenia (NAT) is due to the transplacental transfer of circulatingmaternal alloantibodies developed against fetal platelet antigens inherited from the father. Intracranial hemorrhage occurs in15-30% of the cases, and very important neurological sequelaes can be due to it. Case report. We present the clinical andimmunohematologic findings of a case of severe NAT that had two siblings who died by this illness. In the 31st week ofgestation an intracranial hemorrhage is detected by echography, the birth was by caesarean section. Apgar score of 8 and 9,it wasn’t necessary reanimation procedures. Cutaneous purpura and pallor were presented since birth. Neonatal completeblood count showed a platelet count of 6,000/mm3 (whereas maternal blood count was normal), haemoglobin of 8.8 g/dL andhematocrit of 26.1%, without other biological alterations. In maternal blood alloantibodies antiHPA-1a were detected, beingthe father homozigous for 1a/1a and the mother homozigous for 1b/1b. The patient was treated with transfusions, endovenousgammaglobulin and corticosteroids and his condition improved. Conclusions. Intraparenchymatous hemorrhage is an uncommonpathology in neonates, but when this occurs it’s obligated to rule out a coagulation inherited illness, NTA especially,because of its prevalence and potentially serious neurological sequelaes, sometimes having a good neurological development.Prevention, early treatment and neuroimaging studies should be done in all newborn babies with alloimmune thrombocytopeniaeven when no neurological clinic is seen

[Diode laser therapy in retinopathy of prematurity: more than a decade of experience]. / Tratamiento con láser diodo en la retinopatía del prematuro: más de una década de experiencia.

BACKGROUND: Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. PATIENTS AND METHODS: One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. RESULTS: In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1 %. DISCUSSION: Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity.

Tratamiento con láser diodo en la retinopatía del prematuro: más de una década de experiencia / Diode laser therapy in retinopathy of prematurity: More than a decade of experience

Antecedentes: La retinopatía del prematuro (ROP) constituye una de las causas más importantes de ceguera en la infancia. La introducción del láser diodo ha constituido un avance significativo en su tratamiento. El presente estudio pretende evaluar nuestros resultados en el tratamiento de esta patología, con más de una década de experiencia. Pacientes y métodos: Se han estudiado 182 ojos de 92 prematuros con ROP tratados con láser diodo en el Hospital Universitario Miguel Servet desde 1992 hasta 2003. Se analizan las características de la población (edad gestacional, peso al nacimiento, sexo, estadio y zona de la enfermedad) y el resultado del tratamiento. Se evalúa además el cambio en los criterios de indicación del mismo. Resultado: La población tratada tiene una media de edad gestacional (27,9 semanas) y peso al nacimiento (1.015,9 g) similares a las de otros autores. Se ha logrado evolución favorable en 169 de 182 casos (92,8 %). Con el cambio en los criterios ha aumentado la proporción de evoluciones favorables al 96,1 %. Discusión: Actualmente el láser diodo es el tratamiento de elección en la ROP. El tratamiento, basándose en pautas de actuación más precoces, proporciona mayor eficacia sin aumentar la morbilidad

Background: Retinopathy of prematurity (ROP) is one of the most important causes of blindness in childhood. The introduction of diode laser has represented a significant advance in its treatment. The aim of the present study was to evaluate our results in the treatment of this entity after more than a decade of experience. Patients and methods: One hundred eighty-two eyes in 92 premature infants with ROP treated with diode laser in the Hospital Universitario Miguel Servet from 1992 to 2003 were studied. The characteristics of the population (gestational age, birth weight, sex, stage and affected zone) and treatment outcomes were analyzed. The change in the criteria indicating this treatment was also analyzed. Results: In the treated population, mean gestational age (27.9 weeks) and birth weight (1015.9 g) were similar to those in other published studies. A favorable outcome was achieved in 169 of the 182 cases (92.8 %). The change in criteria increased the proportion of favorable outcomes to 96.1 %. Discussion: Diode laser therapy is currently the treatment of choice in ROP. This treatment, based on guidelines for earlier intervention, provide greater efficacy without increasing morbidity

Triploidía completa 69XXY / Complete triploidy 69,XXY

No disponible

Miocardiopatía dilatada neonatal: a propósito de un caso / Neonatal dilated cardiomyopathy: a case report

Se comunica un nuevo caso de miocardiopatía dilatada neonatal en una recién nacida que, a las pocas horas del parto, comenzó con un cuadro de insuficiencia cardiaca congestiva (ICC) con tendencia al colapso cardiovascular. Las ecocardiografías 2D y Doppler demostraron una función del ventrículo izquierdo muy deprimida, con una fracción de acortamiento del 12 por ciento y una fracción de eyección del 27 por ciento. No se pudo determinar la etiología de la alteración, aunque no se descartó una base génica o familiar. La paciente, que reunía criterios de mal pronóstico evolutivo, se mantuvo con digoxina, furosemida, ácido acetilsalicílico (AIS) y enalapril en una situación de ICC crónica, falleciendo a los tres meses de vida a la espera de un trasplante cardiaco. En el presente trabajo se revisan aspectos de interés de esta afección (AU)

[Neonatal Cornelia de Lange syndrome]. / Síndrome de Cornelia de Lange neonatal.

INTRODUCTION: Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. CASE REPORTS: Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. CONCLUSION: We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development.

Síndrome de Cornelia de Lange neonatal / Neonatal Cornelia de Lange syndrome

Introducción. El síndrome de Cornelia de Lange (SCL) consiste en un cuadro polimalformativo poco frecuente que presenta una amplia expresividad, de etiología todavía desconocida; la mayoría de los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Casos clínicos. Se trata de dos mujeres recién nacidas, sin antecedentes familiares de interés, con retraso de crecimiento intrauterino, nacidas por cesárea por pérdida del bienestar fetal. Ambas presentaban una hipotrofia armónica y un fenotipo clínico muy similar, en el que resaltaban las anomalías craneofaciales y facies características y las alteraciones de las extremidades. Además, su evolución confirma el diagnóstico, al comprobarse en ambas el retraso del desarrollo somático y microcefalia, así como retraso psicomotor moderado-grave y alteraciones del comportamiento. Asimismo, las dos han desarrollado complicaciones médicas características de la afección. El estudio complementario puso de manifiesto en ambas pacientes una disfunción marcada de las vías auditivas y una comunicación interauricular tipo ostium secundum. Se incluyeron precozmente en un programa de rehabilitación motora y sensorial. Conclusión. Se trata de dos observaciones de SCL, con diagnóstico neonatal, que consideramos de interés dada la importancia que tiene para el clínico el reconocimiento temprano de la afección, para el asesoramiento familiar y la ayuda médica y de desarrollo apropiada (AU)

Introduction. Cornelia de Lange syndrome is a rare polimalformative association that shows an expresivity of unknown etiology being most cases sporadic. The diagnosis is clinical. Case reports. Two female newborns without remarkable antecedents affected of intrauterine growth retardation were born by cesarean section due to risk of perinatal asphyxia. Both cases had a harmonic hypotrophy and a very similar clinical phenotype, especially the craniofacial anomalies, with typical facial features and limb alterations. Besides, the evolution confirms the diagnosis because in both cases the delay of somatic development and microcephaly, as well as moderate-severe psychomotor delay and behavior alterations were present. Likewise, both cases have developed typical medical complications of the condition. The complementary study showed in both patients an important dysfunction of the auditory ways and a atrial septal defect. They were soon included in sensory and motor program of rehabilitation. Conclusion. We present two cases of Cornelia de Lange syndrome of neonatal diagnosis that we consider of interest due to the importance of an early recognition of the clinical condition for the family advice and the medical aid and for an appropriate development (AU)

[Interleukin-6 and tumor necrosis factor-alpha as markers of vertically-transmitted neonatal bacterial infection]. / Interleucina-6 y factor de necrosis tumoral-alpha como marcadores de infección neonatal de transmisión vertical.

INTRODUCTION: Neonatal infection is a major cause of morbidity in the neonatal period. Several parameters have been used to assess neonatal sepsis. C-reactive protein (CRP) shows high specificity for bacterial infections, but an increase in CRP is often not detected until 12 to 24 hours after onset of the infection. OBJECTIVE: To evaluate the usefulness of interleukin-6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha) in the early diagnosis of vertically-transmitted neonatal bacterial infection. METHODS: Thirty-four newborns admitted to the neonatal intensive care unit with an initial diagnosis of respiratory distress were included. Twelve newborns presented the criteria for clinical sepsis or pneumonia (group I) and six had positive blood culture. The remaining patients did not present the clinical criteria for infection (group II). IL-6, TNF-alpha, CRP levels and the ratio between immature and mature neutrophil count were assessed at 8.8 +/- 7.3 hours of life. In 17 patients the same parameters were assessed at 67.4 +/- 24.8 hours of life. The statistical analysis was performed using the Mann-Whitney test. The sensitivity and specificity of these markers were assessed. RESULTS: No differences were found in the perinatal features of either group. Analysis of markers of infection revealed the following significant differences: ratio between immature and mature neutrophil count: (0.25 +/- 0.21 vs 0.12 +/- 0.09; p=0.048), CRP first determination (1.4 +/- 0.8 mg/dL vs 1 +/- 0.5 mg/dL; p=0.036), CRP second determination: (3.8 +/- 1.8 mg/dL vs 1.4 +/- 1.1 mg/dL; p=0.008), IL-6 first determination: (582.2 +/- 810.5 pg/mL vs 31.3 +/- 24.2 pg/mL; p=0.000). Sensitivity/specificity (%): ratio between immature and mature neutrophil count: 41.6/83.6; CRP first determination: 16.6/90.9; CRP second determination: 83.3/87.5; IL-6 (optimum cut-off value: 55 pg/mL): 100/72.7, and TNF-alpha: 16.6/85. CONCLUSIONS: IL-6 determination in the first hours of life is a more sensitive early marker of neonatal infection than other classical markers because of its early elevation. Like CRP, early TNF-alpha determination has high specificity but low sensitivity.

Interleucina-6 y factor de necrosis tumoral-a como marcadores de infección neonatal de transmisión vertical / Interleukin-6 and tumor necrosis factor-a as markers of vertically-transmitted neonatal bacterial infection

Introducción: La infección neonatal es una importante causa de morbilidad en el período neonatal. Se han utilizado diferentes parámetros como marcadores de sepsis neonatal. La proteína C reactiva (PCR) ofrece una alta especificidad en las infecciones bacterianas pero su incremento no se observa hasta 12-24 h después de iniciarse la infección neonatal. Objetivo: Evaluar la utilidad de interleucina 6 (IL-6) y factor de necrosis tumoral alfa (TNF-a) en el diagnóstico precoz de la infección neonatal bacteriana de transmisión vertical. Material y métodos: Se incluyeron 34 recién nacidos ingresados en la unidad de cuidados intensivos neonatales con el diagnóstico inicial de dificultad respiratoria. En 12 recién nacidos se constató la existencia de criterios clínicos de sepsis o neumonía (grupo I); en 6 con hemocultivo positivo. Los restantes pacientes no cumplían criterios clínicos de infección (grupo II). Se determinaron a las 8,8 ± 7,3 h de vida niveles de IL-6, TNF-a, PCR e índice de (c/s). En 17 pacientes se determinaron los mismos parámetros a las 67,4 ± 24,8 h. Se utilizó test de Mann-Whitney en el análisis estadístico. Se determinó la sensibilidad y especificidad de los marcadores analizados. Resultados: No se encontraron diferencias significativas en las variables perinatales analizadas en ambos grupos. Al analizar los marcadores de infección encontramos diferencias significativas en: índice de c/s: (0,25 ± 0,21 frente a 0,12 ± 0,09; p 5 0,048), PCR primer control: 1,4 ± 0,8 mg/dl frente a 1 ± 0,5 mg/dl; p 5 0,036; segundo control: 3,8 ± 1,8 mg/dl frente a 1,4 ± 1,1 mg/dl; p 5 0,008; IL-6 primer control: 582,2 ± 810,5 pg/ml frente a 31,3 ± 24,2 pg/ml; p 5 0,000. Sensibilidad/especificidad (por ciento): índice c/s: 41,6/83,6; PCR primer control: 16,6/90,9; PCR segundo control: 83,3/87,5; IL-6 (punto de corte óptimo: 55 pg/ml): 100/72,7 y TNF-a: 16,6/85. Conclusiones: La determinación en las primeras horas de vida de IL-6 contribuye de una forma más rápida al diagnóstico de infección neonatal que otros marcadores clásicos, debido a su elevación precoz. La determinación precoz de TNF-a ha mostrado, al igual que la PCR, una alta especificidad pero con escasa sensibilidad (AU)

[Severe fulminant form of neonatal citrullinemia. Report of a case]. / Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso.

INTRODUCTION: Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. CASE REPORT: A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension. The metabolic evaluation confirmed very significant hyperammonemia, with important increase of citrullin and glutamin, and arginine in the low limits of normality. She was treated with sodium benzoate and arginine and she also needed exanguinotransfusion. It was not possible to put her on hemodyalisis. The findings of the autopsy confirmed massive cerebral edema and characteristic hystological changes in the liver. The determination of the enzymatical activity in liver tissue showed a partial deficiency, with a residual activity of 25% of the average control. CONCLUSIONS: This is a case of fulminant neonatal citrullinemia that we considered of interest in order to draw the attention of the clinical on this type of diseases. The prognosis depends on early diagnosis, witch is based on clinical suspicion and analytical determination of ammonia in every newborn with unexplained vomiting, lethargy or other symptoms of encephalopathy.

Forma grave fulminante de citrulinemia neonatal. Comunicación de un caso / Severe fulminant form of neonatal citrullinemia. Report of a case

Introducción. La citrulinemia es una afección autosómica recesiva, debida a una deficiencia de la argininsuccinato sintetasa (ASS); las formas neonatales son graves y se asocian a un alto índice de mortalidad. Caso clínico. Recién nacida que reingresa al tercer día de vida por episodios apneicos, que requirieron intubación y ventilación mecánica. Previamente, presentó rechazo de las tomas, mala succión, letargia e hipoactividad marcada. En las horas siguientes presentó grave deterioro neurológico, con convulsiones multifocales y coma; falleció a las 20 horas de su ingreso por un cuadro de hipertensión endocraneal. La evaluación metabólica confirmó una hiperamonemia muy significativa, con importante aumento de citrulina y glutamina, adsí como arginina en los límites bajos de la normalidad. Se trató con benzoato sódico y arginina, y se le realizó una exanguinotransfusión de doble volumen; no fue posible practicarle hemodiálisis. Los hallazgos de la autopsia confirmaron un edema cerebral masivo y cambios histológicos característicos en el hígado. La medida de la actividad enzimática en el tejido hepático reveló una deficiencia parcial, con una actividad residual del 25 por ciento de la media control. Conclusión. Se trata de una observación de citrulinemia neonatal de curso fulminante que consideramos de interés, con la finalidad de alertar al clínico sobre este tipo de patología, ya que el pronóstico se va a relacionar con el diagnóstico precoz, basado en la sospecha clínica y determinación del amonio en todo recién nacido con vómitos inexplicables, letargia u otros signos de encefalopatía (AU)

Introduction. Citrullinemia is an autosomal recessive disease, which is caused by a deficiency of the argininosuccinate synthetase. The neonatal forms are serious and many times are associated with a high level of mortality. Case report. A newborn that came in again on her third day of life due to a apneic episodes which required mechanical ventilation. Previously, she rejected feeding, had poor suction, lethargy and remarkable hypoactivity. During the following hours, she showed serious neurologycal deterioration with multifocal convulsions and coma, passing away 20 hours after admission due to endocraneal hypertension. The metabolic evaluation confirmed very significant hyperammonemia, with important increase of citrullin and glutamin, and arginine in the low limits of normality. She was treated with sodium benzoate and arginine and she also needed exanguinotransfusion. It was not possible to put her on hemodyalisis. The findings of the autopsy confirmed massive cerebral edema and characteristic hystological changes in the liver. The determination of the enzymatical activity in liver tissue showed a partial deficiency, with a residual activity of 25% of the average control. Conclusions. This is a case of fulminant neonatal citrullinemia that we considered of interest in order to draw the attention of the clinical on this type of diseases. The prognosis depends on early diagnosis, witch is based on clinical suspicion and analytical determination of ammonia in every newborn with unexplained vomiting, lethargy or other symptoms of encephalopathy (AU)

[Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features]. / Síndrome de Smith-Lemli-Opitz tipo II de diagnóstico neonatal y revisión de sus conocimientos de mayor interés.

INTRODUCTION: Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II. CASE REPORT: We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and cardiac defects. Determination of cholesterol and its precursors by gas chromatography confirmed the clinical diagnosis of a severe form with exitus at six months of age. At the same time a review of the syndrome is presented.

Síndrome de Smith-Lemli-Opitz tipo II de diagnóstico neonatal y revisión de sus conocimientos de mayor interés / Smith-lemli-Opitz syndrome type ii of neonatal diagnosis and review of the most interesting clinical features

Introducción. El síndrome de Smith-Lemli-Opitz es una afección autosómica recesiva de origen metabólico; se distinguen dos tipos clínicos: el tipo I y el tipo II. Caso clínico. Se presenta el caso de una recién nacida a término, con antecedentes obstétricos de oligoamnios y retraso del crecimiento intrauterino, que presentaba un cuadro polimalformativo característico y afectación neurológica, con dismorfismo facial, anomalías de las extremidades y de los genitales externos, estenosis de píloro, alteraciones renales y cardíacas. La determinación del colesterol y de sus precursores mediante cromatografía de gases confirmaron la sospecha diagnóstica de la afección encuadrable dentro de su forma grave, sobre la base de la gravedad clínica y evolutiva, con fallecimiento a los seis meses de vida. Asimismo, se revisan sus conocimientos de mayor interés (AU)