Encefalopatías prenatales. Nuestra experiencia diagnóstica de 19 años. ¿Hasta dónde con los estudios bioquímicos y genéticos? / Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?

Introducción: Consideramos encefalopatías prenatales las que tienen datos clínicos o prenatales de encefalopatía antes del nacimiento. Afectan a un número importante de niños controlados en las consultas de neuropediatría. Pueden ser disruptivas (por problemas vasculares durante el embarazo, drogas, tóxicos o infecciones congénitas), y genéticamente determinadas. Incluimos casos de trastorno del espectro autista y retardo mental sin historia de sufrimiento perinatal o postnatal. Material y métodos: Se revisa nuestra experiencia en el diagnóstico etiológico de las encefalopatías prenatales durante los últimos 19 años. Se analizan los estudios realizados en los casos sin diagnóstico etiológico. Resultados: En el periodo de estudio de 19 años y 5 meses, en la base de datos de neuropediatría figuran 11.910 niños. Tienen establecido el diagnóstico de encefalopatía prenatal 1596 (13,5%). De ellos no tienen diagnóstico etiológico preciso 1.307 niños (81,4%) pese a habérseles realizado múltiples estudios complementarios, fundamentalmente bioquímicos, genéticos y de neuroimagen. Discusión: Muchos de los niños incluidos en este estudio presentan enfermedades raras, estén o no identificadas, que demandan crecientemente un diagnóstico precoz. Enfermedades peroxisomales, lisosomales, mitocondriales, defectos congénitos de la glucosilación, entre otras enfermedades metabólicas hereditarias, infecciones congénitas, cromosomopatías y genopatías, pueden ser indistinguibles clínicamente y necesitan estudios específicos para su identificación. Un diagnóstico precoz precisa estrategias de estudios sistemáticos de forma escalonada, priorizando las enfermedades que tienen posibilidades terapéuticas y en muchos casos es necesaria también una aproximación individualizada. Creemos que las ventajas potenciales del diagnóstico precoz, incluido el ahorro de más pruebas, y la prevención, probablemente sobrepasan el gasto financiero (AU)

Introduction: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. Material and methods: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. Results: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. Discussion: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs (AU)

Prenatal encephalopathies of unknown origin. Our 19-years experience. To what extent must genetic and biochemical studies be carried out?

INTRODUCTION: We examine those prenatal encephalopathies with clinical or neuroimaging data of encephalopathy before the birth. They affect a significant number of children seen by paediatric neurologists. They can be of disruptive origin (due to vascular problems, drugs, toxins or congenital infections), and genetically determined. We include cases of autism spectrum disorder and mental retardation with no history of perinatal of postnatal damages. MATERIAL AND METHODS: We analysed our 19 year neuro-paediatric data base in search of prenatal encephalopathies and their diagnostic origin. We also analyse the studies made in the cases with a diagnosis of unknown origin. RESULTS: The 19 year period of study in the data base included 11,910 children, and 1596 (13.5%) were considered as prenatal encephalopathies; 1307 children (81.4%) had a diagnosis of unknown origin, despite many investigations being done in a large number of them. DISCUSSION: Most of the children included in this study suffer a rare disease, and whether they are identified or not, they increasingly require an early diagnosis. Peroxisomal, mitochondrial, lysosomal diseases, carbohydrate glycosylation deficiency syndrome and other inborn error of metabolism, congenital infections and genetic encephalopathies, can be clinically indistinguishable in early life and require specific studies to identify them. Early diagnosis requires strategies using step-wise systematic studies, giving priority to those diseases that could be treated, and in many cases using an individualised approach. We believe that the potential benefits of early diagnosis, including savings on further studies, genetic counselling and prenatal diagnosis, overcome the financial costs.

[Early care and botulinum toxin. Our experience in the 21st century]. / Atención temprana y toxina botulínica.Nuestra experiencia en el siglo XXI.

INTRODUCTION: In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis. PATIENTS AND METHODS: Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA service in the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. RESULTS: By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. In four years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%. CONCLUSIONS: The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development and early intervention centres (CDIAT). The neuropaediatrician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in family training, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutely crucial.

[Neuropaediatrics and primary care. Our experience in the 21st century]. / Neuropediatría y atención primaria.Nuestra experiencia en el siglo XXI.

INTRODUCTION: The quality of the health care in a major part of neuropaediatrics benefits from appropriate communication and strategies that have been agreed with primary care (PC) paediatricians. PATIENTS AND METHODS: We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over a period of eight years and we also discuss the most important courses of action followed in the most prevalent problems. RESULTS: Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses are headaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%). CONCLUSIONS: The PC paediatrician working in close relation with the children and their families in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favour homogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way.

Atención temprana y toxina botulínica. Nuestra experiencia en el siglo XXI / Early care and botulinum toxin our experience in the 21ST century

Introducción. En neuropediatría, el diagnóstico etiológico pocas veces permite un tratamiento causal. En muchas ocasiones sólo podemos ofrecer la derivación a atención temprana (AT) y la toxina botulínica tipo A (TBA). Ambas intervenciones sólo precisan para su inicio el diagnóstico funcional o sindrómico. Pacientes y métodos. Se analiza la experiencia enel programa de AT para Aragón desde febrero de 2003 y con la consulta de TBA de la Unidad de Neuropediatría del Hospital Universitario Miguel Servet desde noviembre de 2003. Resultados. El número de solicitudes al programa de AT hasta finales de 2007 ascendía a 2.629, y en 2007 se atendía a 702 niños. En cuatro años y cuatro meses se ha infiltrado con TBA a 122 niñoscon parálisis cerebral infantil, con resultados positivos del 70%, y efectos adversos leves y transitorios del 13,1%. Conclusiones. La AT y la TBA se perciben con alta satisfacción por niños, padres y profesionales implicados. La neuropediatría es una de las especialidades médicas más adecuadas en los equipos de atención temprana (CDIAT). El neuropediatra participaen todas las etapas de AT: detección, diagnóstico, información e intervención. Puede ser el elemento coordinador y homogeneizador de la AT, el enlace entre CDIAT y servicios sanitarios. Es necesario en programas de formación y docencia de AT, en campañas de sensibilización, información y formación de familias, atención primaria, servicios sociales y guarderías.El tratamiento con TBA no puede entenderse como una técnica aislada, sino dentro de un programa donde son fundamentales fisioterapia, ortesis y, en ocasiones, cirugía. Es imprescindible la coordinación con los profesionales implicados en el tratamientodel niño con parálisis cerebral infantil

Introduction. In neuropaediatrics, the aetiological diagnosis rarely allows a causal treatment to be established. In many cases, all we can offer is referral to early intervention (EI) and botulinum toxin type A (BTA). The only requirement before starting both interventions is a functional or syndromic diagnosis. Patients and methods. Here we analyse the experience gained from an EI programme carried out in the region of Aragon since February 2003 and with the BTA servicein the Neuropaediatric Unit of the Hospital Universitario Miguel Servet since November 2003. Results. By the end of 2007, 2629 requests had been made for admission to the EI programme and in the year 2007 a total of 702 children were treated. Infour years and four months 122 children with infantile cerebral palsy (ICP) were infiltrated with BTA, with positive results in 70% of cases and mild, transient side effects in 13.1%. Conclusions. The children, parents and professionals involved all view EI and BTA with satisfaction. Neuropaediatrics is one of the medical specialties that are best suited to child development andearly intervention centres (CDIAT). The neuropaedia-trician participates in all the stages of the EI: detection, diagnosis, information and intervention. He or she may act as the coordinating and homogenising element in EI, that is to say, as a link between CDIAT and health care services. Neuropaediatricians are also essential in EI training and education, in familytraining, information and awareness campaigns, primary care, social services and nurseries. Treatment with BTA cannot be viewed as an isolated technique, but instead as part of a programme in which physiotherapy, orthosis and sometimes surgery play a fundamental role. Coordination among the different professionals involved in treating the child with ICP is absolutelycrucial

Neuropediatría y atención primaria. Nuestra experiencia en el siglo XXI / Neuropaediatrix and primary care our experience in the 21ST century

Introducción. La calidad asistencial de gran parte de la neuropediatría se beneficia de una adecuada comunicacióny de estrategias consensuadas con los pediatras de atención primaria (AP). Pacientes y métodos. Se analizan los niños valorados en la consulta de neuropediatría del Hospital Universitario Miguel Servet de Zaragoza en ocho años y se exponen las líneas más importantes de actuación en los problemas más prevalentes. Resultados. El 86% de las primeras visitas se reparteentre ocho motivos de consulta: trastornos paroxísticos (33%), cefalea (27%), retraso psicomotor (11,5%), alteraciones de la forma o tamaño de la cabeza (5,6%), problemas escolares y/o atención deficiente (4,5%), alteraciones del comportamiento (4,25%), trastornos de la marcha (3,5%) y sufrimiento perinatal (3,4%). Los diagnósticos más frecuentes son cefaleas/migrañas(26%), trastornos paroxísticos no epilépticos (16,5%), encefalopatía prenatal (10,5%), epilepsia (8%), retardo mental (7,5%), parálisis cerebral infantil (4,6%), trastorno por déficit de atención con hiperactividad (TDAH) criptogénico (3,8%) y autismo criptogénico (3,6%). Conclusiones. El pediatra de AP cercano a los niños y sus familias en todos los casos es el principalresponsable del seguimiento de algunos de los problemas más prevalentes, como cefaleas, muchos trastornos paroxísticos no epilépticos y TDAH. Los procesos deben estar establecidos, claramente explicitados, basados en las mejores evidencias, con la participación y al alcance de todos los profesionales involucrados, en beneficio de la homogeneidad y reducida variabilidadde las actuaciones. Es necesario establecer vías de comunicación, incluidas las tecnologías de la información y comunicación para una continua actualización y el mejor control de los pacientes

Introduction. The quality of the health care in a major part of neuropaediatrics benefits from appropriatecommunication and strategies that have been agreed with primary care (PC) paediatricians. Patients and methods.We analyse the children who were assessed in the Neuropaediatric service at the Hospital Universitario Miguel Servet in Saragossa over aperiod of eight years and we also discuss the most important courses of action followed in the most prevalent problems. Results. Eight reasons for visiting accounted for 86% of the total number: paroxysmal disorders (33%), headache (27%), psychomotor retardation (11.5%), alterations affecting the shape or size of the head (5.6%), problems at school and/or attention deficit (4.5%), behavioural disorders (4.25%), gait disorders (3.5%) and perinatal distress (3.4%). The most frequent diagnoses areheadaches/migraines (26%), non-epileptic paroxysmal disorders (16.5%), prenatal encephalopathy (10.5%), epilepsy (8%), mental retardation (7.5%), infantile cerebral palsy (4.6%), cryptogenic attention deficit hyperactivity disorder (ADHD) (3.8%) and cryptogenic autism (3.6%). Conclusions. The PC paediatrician working in close relation with the children and theirfamilies in all cases is the person mainly responsible for conducting a follow-up on some of the most prevalent problems, such as headaches, many non-epileptic paroxysmal disorders and ADHD. The processes must be established, clearly specified, based on the best evidence, with the participation and within reach of all the professionals involved, in order to favourhomogeneity and keep variability in the interventions to a minimum. Channels of communication, including the information and communications technologies, need to be set up to allow health professionals to be permanently up-to-date and capable of controlling their patients in the best possible way

Experiencia en el cambio brusco de carbamazepina por oxcarbazepina en niños y adolescentes / Immediate switching from carbamazepine to oxcarbazepine. Our experience in children and adolescents

Objetivo. Revisión retrospectiva de historias clínicascon cambio brusco de carbamazepina (CBZ) por oxcarbazepina(OXC) mediante la administración de al menos 1,3 vecesla dosis que tomaba de CBZ en dos dosis diarias de OXC.Método. Se hizo el cambio brusco en 22 casos pediátricos.Tomaban CBZ en monoterapia 17 casos y 5 en politerapia.La razón del cambio fue en 20 casos para disminuir lascrisis (y evitar efectos secundarios en 4 de ellos) y en 2 sólopor disminuir efectos de somnolencia y cansancio. El cambiomedio fue de 18,62 mg/kg de CBZ a 28,89 mg/kg deOXC. La relación media del cambio CBZ/OXC fue de 1,6:1(máximo: 2:1).Resultados. En 19 casos no se apreció ningún efectonegativo. Un niño empeoró el temblor esencial y 2 niñas semostraron más cansadas y somnolientas. Tres refirieron menorsomnolencia y uno menor tendencia al engorde. En12 casos no se apreció ningún cambio en las crisis. Cese inicialde las crisis en 5 casos; en 3 de ellos de manera mantenida.Disminuyó la frecuencia en 2 casos y acabaron desapareciendoen uno de ellos. En 3 casos disminuyó la intensidad de lascrisis. En dos casos se suspendió la OXC tras 24 meses sincrisis. Seguían tomando OXC 14 pacientes, 8 en monoterapia,con un tiempo medio de seguimiento de 31,5 meses.Conclusión. Dados los beneficios potenciales, facilidady buena tolerabilidad, aconsejamos antes de añadir a la CBZotro antiepiléptico probar con el cambio brusco por OXC (AU)

Objetive. We review retrospectively the clinical historiesof patients who were immediately switched fromcarbamazepine (CBZ) to oxcarbazepine (OXC), beingadministered a minimum of 1.3 times the CBZ dosis in2 daily dosis of OXC.Method. The immediate switching was carried out in22 paediatric cases. 17 patients were taking CBZ in monotherapyand 5 in politherapy. The change was made in20 cases to lower the number of seizures (and to avoid sideeffects in 4 of them), and in 2 only to reduce drowsinessand fatigue. The average change was from 18.62 mg/kg ofCBZ to 28.89 mg/kg of OXC. The medium change ratewas 1.6:1 (maximum: 2:1).Results. In 19 cases there were no side effects. Withone boy, the essential tremor worsened and two girls becamemore tired and drowsy. Three experienced lessdrowsiness and one less weight increase. Twelve casesshowed no seizure changes. Five cases became immediatelyseizure-free, three of them for a prolongated time.There was a reduction in seizure frequency in 2 cases,with posterior disappearance in one of them. Three casesexperienced a reduction in seizure intensity. In two casesOXC was stopped after 24 seizure-free months. Fourteenpatients were still taking OXC, 8 in monotherapy, with amean follow-up of 31.5 months.Conclusion. Given the potential benefits, ease andgood tolerability, we advise trying with immediate switchingto OXC, before adding another antiepileptic drugto CBZ (AU)

[Immediate switching from carbamazepine to oxcarbazepine. Our experience in children and adolescents]. / Experiencia en el cambio brusco de carbamazepina por oxcarbazepina en niños y adolescentes.

OBJECTIVE: We review retrospectively the clinical histories of patients who were immediately switched from carbamazepine (CBZ) to oxcarbazepine (OXC), being administered a minimum of 1.3 times the CBZ dosis in 2 daily dosis of OXC. METHOD: The immediate switching was carried out in 22 paediatric cases. 17 patients were taking CBZ in monotherapy and 5 in politherapy. The change was made in 20 cases to lower the number of seizures (and to avoid side effects in 4 of them), and in 2 only to reduce drowsiness and fatigue. The average change was from 18.62 mg/kg of CBZ to 28.89 mg/kg of OXC. The medium change rate was 1.6:1 (maximum: 2:1). RESULTS: In 19 cases there were no side effects. With one boy, the essential tremor worsened and two girls became more tired and drowsy. Three experienced less drowsiness and one less weight increase. Twelve cases showed no seizure changes. Five cases became immediately seizure-free, three of them for a prolongated time. There was a reduction in seizure frequency in 2 cases, with posterior disappearance in one of them. Three cases experienced a reduction in seizure intensity. In two cases OXC was stopped after 24 seizure-free months. Fourteen patients were still taking OXC, 8 in monotherapy, with a mean follow-up of 31.5 months. CONCLUSION: Given the potential benefits, ease and good tolerability, we advise trying with immediate switching to OXC, before adding another antiepileptic drug to CBZ.

Infección congénita por citomegalovirus y displasia cortical difusa / Congenital cytomegalovirus infection and diffuse cortical dysplasia

Introducción: La infección congénita por citomegalovirus(CMV) es la infección vírica más frecuente transmitida de forma intra uterina que afecta al sistema nervioso central (SNC), con un amplio espectro de alteraciones, incluidos los trastornos del desarrollo cortical, en especial la polimicrogiria, aunque cualquier displasia cortical es posible. Caso clínico: Niña de 4 años y 2 meses, con infección congénita por CMV diagnosticada en el periodo neonatal por hepatosplenomegalia que presenta retraso psicomotor global, tetraparesia espástica y microcefalia. La tomografía axial computarizada evidencia displasia cortical difusa sin otras alteraciones. Discusión: El CMV es el agente infeccioso más implicado en las malformaciones del desarrollo cortical y debe considerarse en su investigación etiológica. El riesgo de repetición en siguientes embarazos es menor que en los trastornos de la migración neuronal de causa genética, como enfermedades peroxisomales o agiria-paquigiria hereditaria

Introduction: Congenital cytomegalovirus(CMV) infection is the most common viral disease known to be transmitted in utero and to affect the central nervous system. It is associated with a wide spectrum of abnormalities, including disorders of cortical development, especially polymicrogyria, although any type of cortical dysplasia can be involved. Case report: The authors report the case of a 4-year 2-month-old girl with congenital CMV infection diagnosed at the neonatal period by hepatosplenomegaly, with a global developmental delay, spastic tetraparesia and microcephaly. Cranial CT showed diffuse cortical dysplasia without other abnormalities. Discussion: CMV is the most common infectious agent involved in disorders of cortical development and has to be considered in the investigation of the etiology. The risk of repetition is lower than for other causes of disorder of neuronal migrationas genetic disease like peroxisomal disorders and hereditary agyria/pachygyria

Réplica. Diagnóstico diferencial entre osteogénesis imperfecta y maltrato infantil: un dilema con repercusiones legales en Neuropediatría / Reply. Differential diagnosis between osteogenesis imperfecta and child abuse: a dilemma with legal implications in Neuropaediatrics

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[Shaken baby syndrome and osteogenesis imperfecta]. / Síndrome del lactante zarandeado y osteogénesis imperfecta.

INTRODUCTION: Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal haemorrhages and, in general, absence of other physical signs of traumatic injury. Osteogenesis imperfecta (OI) is a genetic disorder affecting the synthesis of type I collagen that leads to brittle bones with frequently occurring fractures, with presenting clinical symptoms taking a variety of forms. A differential diagnosis allowing it to be distinguished from physical abuse is known, due to the existence of bone fractures with no known traumatic injuries, but we do not understand the link between OI and SBS. CASE REPORT: We describe the case of an infant who, at the age of 3 months, suffered symptoms of acute encephalopathy with convulsions, subdural haematoma and retinal haemorrhages compatible with SBS, as well as bilateral rib fractures. The skeletal series of X-rays revealed alterations in bone structure and texture, which led to a diagnosis of OI that was confirmed by a study of the collagen in skin fibroblasts. CONCLUSIONS: The suspected existence of SBS is unpleasant both for the health care professional and for the patient's relatives. The existence of rib fractures in an obvious case of shaken baby syndrome suggested malicious abuse; however, the parents' attitude and the existence of OI made us think that no harm was intended. Shaking could have been secondary to bouts of crying due to microfissures related to the OI. The differential diagnosis of processes that can be mistaken for shaken baby or from favourable or predisposing medical factors must be taken into consideration.

[Retrospective diagnosis of congenital infection by cytomegalovirus in the case of one infant]. / Diagnóstico retrospectivo de infección congénita por citomegalovirus en un caso clínico infantil.

INTRODUCTION: 10-15% of asymptomatic congenital infections by cytomegalovirus (CMV) in the neonatal period develop persistent problems with varying degrees of severity, fundamentally involving neurological disorders, neurosensory hypoacusis and hypovision, which appear from the age of 6-9 months onwards, when a diagnosis is no longer possible. The PCR (polymerase chain reaction) technique can detect DNA of CMV in blood samples on filter paper used for screening hypothyroidism and metabolic pathologies that were kept from the neonatal period. CASE REPORT: A child aged 3 years and 8 months with delayed intrauterine growth, autism, mental retardation, microcephalus and neurosensory hypoacusis; periventricular calcifications, leukoencephalopathy and bilateral malformation of the temporal lobe; and a diagnosis of congenital CMV confirmed by detection of DNA by PCR in the blood sample on filter paper saved from the neonatal period. CONCLUSIONS: The retrospective study of congenital infection by CMV should be considered when faced with severity and varying association of delayed intrauterine growth, microcephalus, neurosensory hypoacusis, chorioretinitis, mental retardation, autism or other behavioural disorders, intracranial calcifications, encephaloclastic alterations, leukoencephalopathy, cortical dysplasia and malformations of the temporal lobe and the hippocampus. Since the filter papers from neonatal screening are not kept for ever, perhaps the idea of doing so ought to be considered, given the possibilities they offer for retrospective studies.

Síndrome del lactante zarandeado y osteogénesis imperfecta / Shaken baby syndrome and osteogenesis imperfecta

Introducción. El síndrome del lactante zarandeado (SLZ) es una forma de maltrato físico que incluye la presencia de hematoma subdural o subaracnoideo o edema cerebral difuso, hemorragias retinianas y, en general, ausencia de otros signos físicos de traumatismos. La osteogénesis imperfecta (OI) es un trastorno genético de la síntesis del colágeno de tipo I que ocasiona fragilidad ósea con fracturas frecuentes, y que tiene diferentes formas clínicas de presentación. Se realiza el diagnóstico diferencial con el maltrato físico por la existencia de fracturas óseas sin traumatismos conocidos, pero desconocemos la asociación de la OI con el SLZ. Caso clínico. Se presenta un lactante que a los 3 meses padeció un cuadro de encefalopatía aguda con convulsiones, hematoma subdural y hemorragias retinianas compatibles con el SLZ, así como fracturas costales bilaterales. La serie esquelética evidenció la alteración de la estructura y la textura ósea, lo que llevó al diagnóstico de OI mediante el estudio del colágeno en fibroblastos de piel. Conclusiones. La sospecha del SLZ es desagradable para los profesionales y los familiares. La existencia de fracturas costales en un claro caso de lactante zarandeado orientaba al maltrato malintencionado; sin embargo, la actitud de los padres y la existencia de OI hicieron pensar que no hubo intención de dañar. El zarandeo pudo ser secundario a episodios de llanto por microfisuras en relación con la OI. Debe plantearse el diagnóstico diferencial de procesos que pueden confundirse con el niño zarandeado o de factores médicos favorecedores o predisponentes

Introduction. Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal haemorrhages and, in general, absence of other physical signs of traumatic injury. Osteogenesis imperfecta (OI) is a genetic disorder affecting the synthesis of type I collagen that leads to brittle bones with frequently occurring fractures, with presenting clinical symptoms taking a variety of forms. A differential diagnosis allowing it to be distinguished from physical abuse is known, due to the existence of bone fractures with no known traumatic injuries, but we do not understand the link between OI and SBS. Case report. We describe the case of an infant who, at the age of 3 months, suffered symptoms of acute encephalopathy with convulsions, subdural haematoma and retinal haemorrhages compatible with SBS, as well as bilateral rib fractures. The skeletal series of X-rays revealed alterations in bone structure and texture, which led to a diagnosis of OI that was confirmed by a study of the collagen in skin fibroblasts. Conclusions. The suspected existence of SBS is unpleasant both for the health care professional and for the patient’s relatives. The existence of rib fractures in an obvious case of shaken baby syndrome suggested malicious abuse; however, the parents’ attitude and the existence of OI made us think that no harm was intended. Shaking could have been secondary to bouts of crying due to microfissures related to the OI. The differential diagnosis of processes that can be mistaken for shaken baby or from favourable or predisposing medical factors must be taken into consideration

Hiponatremia por pérdida renal de sal en paciente con diabetes insípida central / Hyponatremia due to renal salt wasting in a patient with partial central diabetes insipidus

La hiponatremia en el contexto de una diabetes insípida suele corresponder a un exceso en el uso de desmopresina; sin embargo, existen otras posibilidades. Se presenta el caso de un lactante de 18 meses, remitido por un cuadro de 2 meses de evolución de poliuria, polidipsia y pérdida ponderal. Los antecedentes, exploración física y exploraciones complementarias, incluida neuroimagen, eran normales, salvo la presencia de una poliuria hiposmolar de 3 litros que, tras dieta seca y administración de hormona antidiurética (ADH), se catalogó de diabetes insípida central parcial. Se inició tratamiento con desmopresina intranasal. Seis meses más tarde, ingresó en UCI por un cuadro de deshidratación hiponatrémica grave (sodio de 108 mEq/L), convulsiones y poliuria con fracción de excreción de sodio de 3 mL/100 mL de filtrado glomerular. Un mes más tarde, presentó otro cuadro similar, por lo que se inició la administración de sal por vía oral. A los cuatro meses, la poliuria-polidipsia mejoró. Ante la mejoría clinicoanalítica, se suspendió el tratamiento. El paciente permanece asintomático un año más tarde. El síndrome cerebral pierde sal se caracteriza por diuresis y natriuresis elevadas, hiponatremia y depleción del espacio extravascular. En su patogénesis, se baraja la acción de distintos péptidos natriuréticos; su desencadenante no es siempre una enfermedad intracraneal. En el caso descrito, se dudó de si se trataba de una verdadera diabetes insípida central parcial transitoria o bien de una polidipsia-poliuria primaria que desarrolló, posteriormente, un síndrome pierde sal por desajuste en el eje ADH-péptidos natriuréticos

Hyponatremia in association with diabetes insipidus usually corresponds to an overdose of desmopressin; nevertheless, there are other possibilities. We present the case of an 18-month-old boy who was referred to us with a 2-month history of polyuria, polydipsia and weight loss. His medical record and the results of physical examination and additional tests, including neuroimaging, were normal, except for the presence of hypo-osmolar polyuria (3 L). After dry diet and the administration of antidiuretic hormone (ADH), he was diagnosed as having partial central diabetes insipidus, and intranasal desmopressin therapy was begun. Six months later, he was admitted to the intensive care unit with severe dehydration associated with hyponatremia (Na: 108 mEq/L), seizures and polyuria, with fractional excretion of sodium of 3 mL/100 mL glomerular filtration rate (GFR). One month later, he presented a similar episode and oral salt supplementation was begun. Four months later, his polyuria and polydipsia had improved. Given the clinical and analytical improvement, the treatment was discontinued and the child remains asymptomatic one year later. Cerebral salt-wasting syndrome is characterized by marked diuresis and natriuresis, in the presence of hyponatremia and depletion of the extravascular space. Its pathogenesis has been attributed to the action of different natriuretic peptides, and it is not always triggered by an intracranial disease. In our case, we questioned whether the patient presented true transient partial central diabetes insipidus or, in contrast, primary polydipsia-polyuria with subsequent development of salt-wasting syndrome due to an imbalance in the ADH-natriuretic peptide axis

[Absence epilepsy. A review of our 14 years' experience]. / Epilepsia con ausencias. Revisión de nuestra experiencia de 14 años.

INTRODUCTION: Absence epilepsy (AE), typically occurring at the paediatric age, is characterised by episodes of diminished consciousness accompanied by a generalised rapid spike-wave in electroencephalogram recordings. PATIENTS AND METHODS: Our study involved children with AE from the Neuropaediatrics database between May 1990 and May 2004. Patient records were reviewed and cases no longer controlled were contacted by telephone. RESULTS: Of a total of 7,562 patients surveyed in the period under study, 757 subjects (10%) had epilepsy and there were 49 cases of AE (6.47% of the total number of cases of epilepsy): 29 were females (59.2%) and 20 were males (40.8%). Mean age at the time of the first visit was 7.93 years (ranging between 3 years and 10 months and 13 years and 6 months). The average follow-up time between the first visit and the last time information was updated was 5.3 years (ranging between 10 days and 13 years and 2 months). Only two females, receiving treatment, still have absences. 42 children have been without absences for more than six months, 16 with treatment and 26 without therapy; 21 children have been without absences for over four years and are not under treatment. 12 have problems at school. CONCLUSIONS: AE is easy to diagnose and usually responds well to treatment either as monotherapy or, in some cases, in association with two antiepileptic agents. Strict initial control by experts in its management prevents absences from continuing over long periods of time. The psychosocial and learning dysfunctions that are associated in some cases require close attention.

Epilepsia con ausencias. Revisión de nuestra experiencia de 14 años / Absence epilepsy. A review of our 14 years experience

Introducción. La epilepsia con ausencias (EA), propia de las edades pediátricas, se caracteriza por episodios de disminución de la conciencia acompañados de punta onda rápida generalizada en el electroencefalograma. Pacientes y métodos. Niños con EA de la base de datos de Neuropediatría desde mayo de 1990 hasta mayo de 2004. Se han revisado las historias clínicas y se ha contactado telefónicamente con los casos que ya no se controlaban. Resultados. De 7.562 pacientes valorados en el período de estudio, figuran 757 pacientes (10%) con epilepsia y 49 casos de EA (6,47% del total de las epilepsias): 29 mujeres (59,2%) y 20 varones (40,8%). La edad media en el momento de la primera consulta era de 7,93 años (rango entre 3 años y 10 meses y 13 años y 6 meses). El tiempo medio de seguimiento entre la primera visita y la última actualización de datos es de 5,3 años (rango entre 10 días y 13 años y 2 meses). Sólo persisten ausencias en dos niñas, en tratamiento. Hay 42 niños que llevan más de seis meses sin ausencias, 16 con tratamiento y 26 sin tratamiento; 21 niños llevan más de cuatro años sin ausencias y no están con tratamiento. 12 niños presentan dificultades escolares. Conclusiones. La EA es de fácil diagnóstico y, habitualmente, buena respuesta terapéutica, con monoterapia o, en algunos casos, la asociación de dos antiepilépticos. Un estrecho control inicial por expertos en su manejo evita la persistencia de las ausencias durante períodos prolongados. Deben vigilarse disfunciones psicosociales y de aprendizaje que se asocian en algunos casos (AU)

Introduction. Absence epilepsy (AE), typically occurring at the paediatric age, is characterised by episodes of diminished consciousness accompanied by a generalised rapid spike-wave in electroencephalogram recordings. Patients and methods. Our study involved children with AE from the Neuropaediatrics database between May 1990 and May 2004. Patient records were reviewed and cases no longer controlled were contacted by telephone. Results. Of a total of 7,562 patients surveyed in the period under study, 757 subjects (10%) had epilepsy and there were 49 cases of AE (6.47% of the total number of cases of epilepsy): 29 were females (59.2%) and 20 were males (40.8%). Mean age at the time of the first visit was 7.93 years (ranging between 3 years and 10 months and 13 years and 6 months). The average follow-up time between the first visit and the last time information was updated was 5.3 years (ranging between 10 days and 13 years and 2 months). Only two females, receiving treatment, still have absences. 42 children have been without absences for more than six months, 16 with treatment and 26 without therapy; 21 children have been without absences for over four years and are not under treatment. 12 have problems at school. Conclusions. AE is easy to diagnose and usually responds well to treatment either as monotherapy or, in some cases, in association with two antiepileptic agents. Strict initial control by experts in its management prevents absences from continuing over long periods of time. The psychosocial and learning dysfunctions that are associated in some cases require close attention (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.

[Fatal rhabdomyolysis in an 8-year-old female]. / Rabdomiólisis fatal en una niña de 8 años.

INTRODUCTION: Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication. CASE REPORT: An 8 year old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample. CONCLUSIONS: Even with all today's progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctor's duty and right to exhaust all the diagnostic possibilities available.

Rabdomiólisis fatal en una niña de 8 años / Fatal rhabdomyolysis in an 8-year-old female

Introducción. La rabdomiólisis es un síndrome caracterizado por una destrucción muscular que lleva al paso de metabolitos tóxicos intracelulares al sistema circulatorio. Suele tener un curso evolutivo benigno, pero puede tener complicaciones graves y potencialmente fatales, dependientes en gran parte de la causa. Los trastornos del metabolismo energético muscular se pueden manifestar por una rabdomiólisis recurrente, cuyo mayor riesgo es habitualmente el fracaso renal. Caso clínico. Niña de 8 años con antecedente de un episodio de rabdomiólisis e1 año previo, que falleció en la Unidad de Cuidados Intensivos Pediátricos durante un cuadro agudo de rabdomiólisis y shock refractario. Se obtuvo una biopsia muscular, pero la muestra no resultó adecuada para establecer un diagnóstico. Conclusiones. Incluso con todos los avances bioquímicos, moleculares y genéticos actuales, la causa de la rabdomiólisis recurrente no es fácil de identificar. Se destaca la evolución fatal de un problema habitualmente benigno, cuya complicación más grave se considera el fallo renal, producido de forma retardada en caso de una grave descompensación inadecuadamente tratada. Se aconseja tener pautada la adecuada recogida, preparación y almacenaje de muestras biológicas para estudios bioquímicos, enzimáticos, inmunohistoquímicos y de ADN, que pueden llevar al diagnóstico en caso de fallecimiento por causa desconocida. Se destaca el deber y el derecho de los médicos a apurar las posibilidades diagnósticas (AU)

Introduction. Rhabdomyolysis is a syndrome characterised by the destruction of muscle fibres which results in the release of toxic intracellular metabolites into the circulatory system. It usually has a benign progression but can have serious, potentially fatal, complications that largely depend on the cause. Disorders affecting the metabolism of energy in muscles can manifest as recurring rhabdomyolysis, which usually has kidney failure as its most common complication. Case report. An 8-year-old girl who had suffered an episode of rhabdomyolysis one year earlier and later died in the Paediatric Intensive Care Unit while suffering from acute symptoms of rhabdomyolysis and refractory shock. A muscular biopsy specimen was collected, but it was not possible to establish a diagnosis from that sample. Conclusions. Even with all today’s progress in the biochemical, molecular and genetic fields, the cause of recurring rhabdomyolysis is not easy to identify. What stands out in this case is the fatal progression of a usually benign problem, whose most serious complication is considered to be the delayed production of kidney failure when there is severe decompensation that does not receive adequate treatment. We recommend having guidelines set out for the correct collection, preparation and storage of the biological samples needed for the biochemical, enzymatic, immunohistochemical and DNA studies that can provide a diagnosis when death due unknown causes occurs. We emphasise the fact that it is the doctor’s duty and right to exhaust all the diagnostic possibilities available (AU)

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)