Características de los traslados pediátricos urgentes de un hospital de segundo nivel. Desde lo que tenemos y hacia lo que queremos / Features of pediatric urgent tranfers from secundary hospitals. From what we have, to what we want

Introducción: El transporte pediátrico aporta recursos humanos y materiales a centros que carecen de ellos y aproxima al niño enfermo adonde se encuentran esos recursos; es especialmente importante cuando se precisan cuidados intensivos y/o cirugía urgente. Objetivos: Describir el perfil de los niños trasladados de forma urgente desde nuestro servicio de pediatría a los hospitales de referencia. Analizar las diferencias etiológicas, demográficas y estacionales. Material y métodos: Estudio descriptivo retrospectivo de los traslados pediátricos urgentes de un hospital de segundo nivel durante el periodo comprendido entre 2011 y 2014. Los datos han sido extraídos de la revisión de los informes de traslado. Se han estudiado diversas variables cualitativas, como el sexo, la distribución en grupos de edad, la etiología, el origen y el destino del traslado. Resultados: Se efectuó un total de 192 traslados, con una media de 48 traslados/año (rango: 45-52); el 58,9% correspondió a varones, con una media de edad de 2,85 ± 1,75 años; el 30,2% eran menores de 1 mes y el 17,2% tenían entre 1 y 12 meses. Diciembre fue el mes con mayor número de traslados. Las causas más frecuentes fueron quirúrgicas, seguidas de neonatales y respiratorias. El 46,3% ingresó en la unidad de cuidados intensivos (pediátrica o neonatal). Al comparar los grupos etiológicos con el resto de variables, se observan diferencias estadísticamente significativas (p <0,0001). Conclusiones: El perfil del traslado depende fundamentalmente de la edad y de la estación del año; predomina la patología respiratoria en invierno y los accidentes en verano. El transporte pediátrico y neonatal resulta una pieza clave en la cadena de supervivencia del niño con una enfermedad grave y en la provisión de una continuidad asistencial, por lo que debería entenderse como un proceso eficiente y de calidad realizado por profesionales capacitados para la atención, que debe contar con un material y una metodología adecuados para cada caso (AU)

Introduction: The pediatric transport provides human and material resources to hospitals that lack them, helping critically ill children to access where those necessary resources are. Transfer enhances importance when intensive care and/or emergency surgery is needed. Objectives: Describe the profile of children urgently transferred from our pediatric service to referral hospitals. Analyze the etiologic, demographic and seasonal differences. Material and methods: Retrospective study of pediatric urgent transfer of a secondary hospital during the years 2011-2014. The data were drawn from the review of transfer reports. We studied qualitative variables such as sex, age group distribution, etiology, origin and destination of the shipment. Results: A total of 192 transfers with an average 48 transfers/year (range: 45-52) were performed. 58.9% were male and the mean age 2.85 ± 1.75 years. Age distribution: 30.2% less than 1 month, 17.2% 1-12 months. Highest number of transfers were performed in December. The most common etiologies were surgical, neonatal and respiratory. Reviewing the transfer final destination at least 46.3% of the patients were admitted in the ICU (pediatric or neonatal). We found statistically significant differences when comparing the etiological groups regarding other variables (p <0.0001). Conclusions: The profile of the transfer depends mainly on the age and season predominant respiratory disease in winter and accidents during summer. Pediatric and neonatal transport is one of the key poinst in the survival chain of critically ill children and in the provision of a continuous medical care. Therefore we should develop an efficient transfer process and high-quality care with trained professionals provided with material and methodology suitable for each case (AU)

Tuberculosis infantil: presentación de 3 casos y discusión / Pediatric tuberculosis: case report and discussion

Se presentan tres casos de tuberculosis infantil. Los dos primeros casos son dos hermanos de 5 años y 20 meses de edad con tuberculosis pulmonar, contactos intradomiciliarios del caso índice, la madre de ambos afecta de tuberculosis pulmonar bacilífera, con antecedente de viaje hace 4 meses a su pais de origen (Marruecos); ambos diagnosticados por positividad de la prueba de tuberculina y estudio radiográfico. El tercero es una niña de 9 años afecta de artritis idiopática juvenil en tratamiento inmunosupresor que desarrolló tuberculosis miliar con afectación encefálica, diagnosticada inicialmente en contexto de estudio de adenopatía (AU)

Three cases of childhood tuberculosis are presented: first and second cases are two brothers of 5 years and 2.0 months old respectively with pulmonary tuberculosis, household contacts of the index case: their mother, who was affected by smear-positive pulmonary tuberculosis, four months after visiting their country of origin (Morocco); both brethren were diagnosed by positivity of the tuberculin test and radiographic study. The third case is a 9 ycar old girl, juvenile idiopathic arthritis patient treated With immunosuppressive therapy, who has developed miliary tuberculosis with meningoencephalic involvement and she was initially diagnosed by the study of an adenopathy (AU)

Poliquistosis renal autosomica recesiva: un caso de debut neonatal / Autosomal recessive polycystic kidney disease with neonatal: a case report

La enfermedad poliquistica renal autosomica recesiva (PQRAR) es una enfermedad hereditaria rara, debida a una mutación del gen PKHD1, caracterizada por la aparición de múltiples quistes renales de pequefio tamaño, afectación hepática y desarrollo de hipertensión arterial. Su forma de presentación más frecuente es la neonatal que, generalmente, cursa con nefromegalia grave, oligoamnios e hipoplasia pulmonar secundaria. Presentamos un caso de PQRAR diagnosticado a los 16 dias de vida al realizarse ecografía abdominal por distensión abdominal y palpación de masa bilateral, siendo confirmado, posteriormente, con estudio genético. Inicialmente se constató la existencia de hiponatremia asintomática con función renal normal y la presencia de hipertensión arterial (HTA) con repercusión cardíaca en forma de hipertrofia del ventrículo izquierdo que se normalizó tras inicio tratamiento hipertensivo. Actualmente el paciente, que tiene 22 meses de edad y ha presentado varias infecciones del tracto urinario, continua tratamiento antihipertensivo con terapia múltiple y ha desarrollado enfermedad renal crónica (ERC) (AU)

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease caused by PKHD1, gene mutation, characterized by the appearance of multiple small cysts kidney, liver involvement and development of hypertension. Neonatal debut is the most common presentation which generally associates serious nephromegaly, oligoamnios and secondary pulmonary hypoplasia. We present a case of ARPKD diagnosed at 16 days of age by abdominal ultrasound performed by abdominal distension and bilateral palpation of mass; later it was confirmed by genetic study. Initially the baby had asymptomatic hyponatremia with normal renal function and hypertension with left ventricular hypertrophy which disappeared after hypertension treatment. Currently the patient who is 22 months old has had several urinary tract infections; he continues under antihypertensive treatment with multiple therapy because of his difficult control hypertension and he has developed chronic renal failure (AU)

Lumbalgia en adolescente de 12 años como manifestación clínica de hematocolpos por himen imperforado / Low back pain in 12-years old adolescent as clinical manifestation of hematocolpos secondary to imperforate hymen

Presentamos un caso de hematocolpos debido a himen imperforado, diagnosticado en paciente de 12 años que es remitida al Servicio de Urgencias por lumbalgia mecánica de 2 semanas de duración sin mejoría a pesar de tratamiento con antiinflamatorios no esteroideos y relajantes musculares. La paciente presentaba dolor lumbar intenso que interfería en el descanso nocturno, sin antecedente traumático previo, y asociaba las últimas 24 horas dificultad para realizar micción. Una anamnesis y exploración física detallada son suficientes para diagnosticar una patología que, aunque poco frecuente, tiene un tratamiento quirúrgico sencillo y cuyo diagnóstico puede evitar multitud de exámenes complementarios y tratamientos farmacológicos innecesarios (AU)

We present a case of hematocolpos due to an imperforate himen, diagnosed in a 12 years old patient who was referred to the Emergency Service because of a two weeks duration mechanic lumbago which did not improve despite the treatment with NSAIDs and muscle relaxants. The patient had severe low back pain that interfered with the night rest, with no previous history of trauma, and in the last 24 hours, also presented difficulty in urination. The study of the medical records and a physical exploration were enough to diagnose a pathology that, although rare, has a simple surgical treatment and whose diagnosis can prevent many complementary exams and unneccssary drug treatments (AU)

Llanto al mes de vida. No todo son cólicos / Crying in a one-month-old baby. Not all are crampings

El llanto de los lactantes es uno de los motivos de consulta más frecuentes en las Urgencias Pediátricas. La mayoría de las ocasiones son cuadros autolimitados, pero hay que prestar especial atención a los signos y síntomas de alarma para realizar otras pruebas complementarias. Presentamos el caso de un lactante de un mes de vida que asociaba distensión abdominal y rechazo de las tomas. En las pruebas de imagen se apreció una masa multiquística en abdomen. La laparotomía evidenció una malformación linfática en el íleon medio, con confirmación anatomopatológica de linfagioma quístico mesentérico (AU)

Crying infants are one of the most frequent reasons within the pediatric emergency consultation. Most cases are self-limiting but we must pay special attention to the alarm signs/symptoms to perform additional tests. We report the case of a one-month-old infant who presents bloating and rejects feeding. The imaging test shows a multicystic mass in the abdomen. Laparotomy revealed a lymphatic malformation in the middle ileum and pathology confirmed mesenteric cystic lymphangioma (AU)

[Bilateral anterior opercular syndrome as a manifestation of a non-convulsive epileptic state]. / Síndrome opercular anterior como manifestación de estado epiléptico no convulsivo.

INTRODUCTION: Foix-Chavany-Marie syndrome, or bilateral anterior opercular syndrome, is characterised by facio-pharyngo-glosso-masticatory diplegia with 'automatic-voluntary dissociation', which consists in the abolition of voluntary movements while involuntary movements and reflexes are preserved. It is produced by bilateral involvement of the anterior or frontal opercular region. In adults it is related to ischemic lesions. In childhood it presents congenitally in perisylvian dysplasias and as an acquired disorder in encephalitis or can be episodic in symptomatic or idiopathic epilepsies such as benign rolandic epilepsy. CASE REPORT: A 13-year-old patient who presented, over five straight days, four episodes of facial dysplegia, anarthria, dysphagia, drooling, paralysis of the upper limbs, while involuntary facial expression was normal and the corneal, cough and gag reflexes were preserved. The first three come to an end spontaneously at 2, 4 and 20 hours, respectively; the fourth episode concluded an hour and a half after onset, following administration of intravenous phenytoin for 5 minutes. Computerised axial tomography and magnetic resonance images of the brain, as well as the interictal electroencephalograms (EEG), were normal. Administration of oxcarbazepine was started but at 8 months was stopped after a normal EEG during nocturnal sleep was obtained. After 15 months, the patient has not presented any more episodes. CONCLUSIONS: The paroxysmal character of the disorder together with normal interictal periods, the normality of the neuroimages, and the speedy recovery achieved after the administration of phenytoin support the notion of an epileptic origin. We believe that we are dealing with a bilateral anterior opercular syndrome due to a non-convulsive epileptic state, compatible with the presentation of benign rolandic epilepsy.

Síndrome opercular anterior como manifestación de estado epiléptico no convulsivo / Bilateral anterior opercular syndrome as a manifestation of a non-convulsive epileptic state

Introducción. El síndrome de Foix-Chavany-Marie o síndrome opercular anterior se caracteriza por parálisis labial, facial, glosofaríngea, laríngea y braquial con disociación automaticovoluntaria, que consiste en la abolición de los movimientos voluntarios con movimientos involuntarios y reflejos preservados. Se produce por una afectación bilateral de la región opercular anterior o frontal. En los adultos se relaciona con lesiones isquémicas, mientras que en la infancia se presenta, de forma congénita, en displasias perisilvianas y, de forma adquirida, en encefalitis o, de forma episódica, en epilepsias sintomáticas o idiopáticas, como la epilepsia rolándica benigna. Caso clínico. Paciente de 13 años que presenta, en cinco días consecutivos, cuatro episodios de diplejía facial, anartria, disfagia, sialorrea, paresia de las extremidades superiores, expresión facial involuntaria normal y reflejos corneal, tusígeno, y nauseoso preservados. Los tres primeros se resolvieron de forma espontánea a las 2, a las 4 y a las 20 horas, respectivamente; el cuarto episodio cedió a la hora y media de su inicio, a los 5 minutos de la administración de fenitoína intravenosa. La tomografía axial computarizada y la resonancia magnética cerebrales, así como los electroencefalogramas (EEG) intercríticos, fueron normales. Se administró oxcarbacepina, que se suprimió a los 8 meses tras un EEG de sueño nocturno normal. Tras 15 meses, no ha presentado más episodios. Conclusiones. El carácter paroxístico con normalidad intercrítica, la normalidad de la neuroimagen y la rápida recuperación tras la administración de fenitoína apoyan el origen epiléptico. Consideramos que se trata de un síndrome opercular anterior debido a un estado epiléptico no convulsivo, compatible con la presentación de una epilepsia rolándica benigna (AU)

Introduction. Foix-Chavany-Marie syndrome, or bilateral anterior opercular syndrome, is characterised by faciopharyngo-glosso-masticatory diplegia with ‘automatic-voluntary dissociation’, which consists in the abolition of voluntary movements while involuntary movements and reflexes are preserved. It is produced by bilateral involvement of the anterior or frontal opercular region. In adults it is related to ischemic lesions. In childhood it presents congenitally in perisylvian dysplasias and as an acquired disorder in encephalitis or can be episodic in symptomatic or idiopathic epilepsies such as benign rolandic epilepsy. Case report. A 13-year-old patient who presented, over five straight days, four episodes of facial dysplegia, anarthria, dysphagia, drooling, paralysis of the upper limbs, while involuntary facial expression was normal and the corneal, cough and gag reflexes were preserved. The first three come to an end spontaneously at 2, 4 and 20 hours, respectively; the fourth episode concluded an hour and a half after onset, following administration of intravenous phenytoin for 5 minutes. Computerised axial tomography and magnetic resonance images of the brain, as well as the interictal electroencephalograms (EEG), were normal. Administration of oxcarbazepine was started but at 8 months was stopped after a normal EEG during nocturnal sleep was obtained. After 15 months, the patient has not presented any more episodes. Conclusions. The paroxysmal character of the disorder together with normal interictal periods, the normality of the neuroimages, and the speedy recovery achieved after the administration of phenytoin support the notion of an epileptic origin. We believe that we are dealing with a bilateral anterior opercular syndrome due to a non-convulsive epileptic state, compatible with the presentation of benign rolandic epilepsy (AU)

Hiperoxaluria primaria / Primary hyperoxaluria

No disponible

[Expansile cyst, twin formation and possible parasagittal cerebral injury]. / Quiste insuflante, gemelaridad y posible daño cerebral parasagital.

INTRODUCTION: Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed 'expectantly'. Disruptive defects are more frequent in twin pregnancies. CASE REPORT: A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re expansion of the brain tissue. DISCUSSION: It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic ischemic encephalopathy in the full term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy.

Quiste insuflante, gemelaridad y posible daño cerebral parasagital / Expansile cyst, twin formation and possible parasagittal cerebral injury

Introducción. Los defectos prenatales intracraneales de naturaleza quística pueden ser, principalmente, de tipo malformativo (quistes aracnoideos) o disruptivo (porencefalia). Suelen ser hallazgos casuales y, a no ser que aumenten progresivamente de tamaño y adquieran carácter insuflante, o produzcan manifestaciones clínicas, la conducta es habitualmente expectante. Los defectos disruptivos son más frecuentes en los embarazos gemelares. Caso clínico. Varón de mes y medio, fruto de un embarazo gemelar bicorial, con episodios de palidez, cianosis peribucal y movimientos bucales que respondieron inicialmente al tratamiento con valproato. La exploración física fue normal, salvo por un aumento significativo del perímetro cefálico. Se evidenció una anemia marcada y , en la neuroimagen, una lesión quística intra parenquimatosa temporal izquierda; además, en la resonancia magnética aparecieron alteraciones de señal lineales y simétricas en la región parasagital. A los tres meses reaparecieron las crisis yse evidenció un aumento del tamaño del quiste, por lo que se colocó una derivación cistoperitoneal. Cedieron las crisis y se estabilizó el tamaño del quiste, sin una reexpansión total del tejido cerebral. Discusión. Se plantea el diagnóstico diferencial entre quiste aracnoideo y por encefalia. Dados el antecedente de gemelaridad, la anemia significativa al mes de vida y la imagen sugestiva de daño cerebral parasagital (patrón de encefalopatía hipoxicoisquémica del recién nacido a término), pensamos que nuestro paciente sufrió un daño cerebrovascular perinatal antenatal, que condicionó el desarrollo de un quiste porencefálico insuflante y un daño cortical responsable de la epilepsia sintomática (AU)

Introduction. Prenatal intracranial anomalies of a cystic nature are mainly either malformations (arachnoid cysts) or disruptive (porencephaly). They are usually incidental findings and, unless they undergo a progressive increase in size and become expansile or offer clinical features, they are usually managed ‘expectantly’. Disruptive defects are more frequent in twin pregnancies. Case report. A one and a half-month-old male patient, fruit of a bichorial twin pregnancy, with bouts of paleness, cyanosis around the mouth and movements of the mouth that initially responded to treatment with valproate. Physical exploration was normal except for a significant increase in the cephalic perimeter. A notable anaemia was observed and neuroimaging revealed a left temporal intraparenchymatous cystic lesion; in addition, magnetic resonance imaging showed alterations in the linear and symmetrical signals in the parasagittal region. At three months the seizures reappeared and the cyst had increased in size, which led to the implantation of a cyst-peritoneal shunt. The seizures ceased and the size of the cyst became stable, without full re-expansion of the brain tissue. Discussion. It is necessary to carry out a differential diagnosis of an arachnoid cyst and porencephaly. Given the history of being a twin, the notable degree of anaemia at the age of one month and the image suggesting parasagittal cerebral injury (a pattern of hypoxic-ischemic encephalopathy in the full-term neonate), we think that our patient was suffering from antenatal or perinatal cerebrovascular damage, which conditioned the development of an expansile porencephalic cyst and cortical damage that accounted for the symptoms of epilepsy (AU)

[Microcephalus as the reason for visiting a regional referral neuropaediatric service]. / Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional.

INTRODUCTION: The first contact between the patient and clinician takes place when the former visits because of some health problem. PATIENTS AND METHODS: We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. RESULTS: In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. CONCLUSIONS: Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes.

Microcefalia como motivo de consulta en un Servicio de Neuropediatría de referencia regional / Microcephalus as the reason for visiting a regional referral neuropaediatric service

Introducción. El primer contacto entre paciente y médico se establece mediante la consulta de un problema. Pacientes y métodos. Se han revisado las historias clínicas de los niños valorados en el Servicio de Neuropediatría durante un período de 12 años y 9 meses, entre cuyos motivos de consulta, aislado o asociado a otros, figuraba la microcefalia. Se ha considerado la existencia o no de un perímetro cefálico por debajo del p3 y la evidencia o no de encefalopatía, y su origen prenatal, perinatal o posnatal, los diagnósticos funcionales y el diagnóstico etiológico. Resultados. De 6.257 niños, 58 (0,92 por ciento) consultaron por microcefalia. La edad media en el momento de la última consulta fue de 3,9 años. En cinco niños (8,6 por ciento) el perímetro cefálico no estaba por debajo del p3. En 20 pacientes (34,4 por ciento) no se evidenció encefalopatía, y en 38 (65,5 por ciento) sí se consideró encefalopatía, en 37 de origen prenatal: nueve genéticas, tres disruptivas y 22 sin especificar. Los diagnósticos funcionales fueron: retraso mental en 29 pacientes, parálisis cerebral infantil en 18, espectro autista en cuatro y epilepsia en cuatro. La neuroimagen ha contribuido al diagnóstico en 13 casos, el 43,3 por ciento de los que se han realizado. Conclusiones. La consulta por microcefalia, además de incluir a niños normales, comprende todo el espectro de encefalopatías prenatales, y se asocia, por orden de frecuencia, a retraso mental y a parálisis cerebral infantil. La valoración y la evolución clínica permite orientar cada caso. La neuroimagen es el examen complementario de mayor rentabilidad diagnóstica (AU)

Introduction. The first contact between the patient and clinician takes place when the former visits because of some health problem. Patients and methods. We carried out a review of the clinical records of children who had visited the Neuropaediatric Service because of, among other reasons, an isolated or associated microcephalus over a period of 12 years and 9 months. Factors that were considered included whether or not there was a cephalic perimeter below p3 and evidence of encephalopathy, as well as its prenatal, perinatal or postnatal origin, functional diagnoses and the aetiological diagnosis. Results. In 58 cases (0.92%) out of a total number of 6257 children the visit was due to microcephalus. The mean age at the last visit was 3.9 years. In five children (8.6%) the cephalic perimeter was not below p3. No encephalopathy was found in 20 patients (34.4%) and 38 (65.5%) were seen to have encephalopathy, 37 with a prenatal origin: nine genetic, three disruptive and 22 unspecified. Functional diagnoses were as follows: mental retardation in 29 patients, infantile cerebral palsy in 18, autistic spectrum in four and epilepsy in four. Neuroimaging studies aided diagnosis in 13 cases, i.e. 43.3% of those carried out. Conclusions. Visits to the doctor because of microcephalus, as well as in normal children, include the whole range of prenatal encephalopathies and are associated, ordered according to the frequency of occurrence, with mental retardation and with infantile cerebral palsy. Individual evaluation and clinical progression allow the orientation of each case. Neuroimaging is the most useful complementary examination for diagnostic purposes (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)