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Introduccion. El sindrome de Aicardi-Goutieres es un trastorno inmunitario raro debido a mutaciones en siete genes que codifican proteinas llamadas TREX1, el complejo ribonucleasa H2, SAMHD1, ADAR e IFIH1 (MAD5), las cuales estan implicadas en el metabolismo de los acidos nucleicos. A continuacion se presentan dos nuevos casos por mutacion en el gen RNASEH2B, uno de los cuales presenta una mutacion no descrita hasta la fecha. Casos clinicos. Caso 1: varon que consulto porque desde los 5 meses, coincidiendo con cuadros febriles de repeticion, presentaba perdida de los items madurativos adquiridos hasta la fecha. Caso 2: nino de 4 meses que desde los 2 meses mostraba gran irritabilidad con dificultades en la alimentacion, asociado a un grave retraso psicomotor. En ambos casos se constato un aumento de las pterinas en el liquido cefalorraquideo, principalmente de la neopterina, con calcificaciones en los ganglios basales. El diagnostico se confirmo mediante secuenciacion del gen RNASEH2B; el caso 2 presentaba una mutacion no descrita en la literatura medica. Conclusiones. Los casos corresponden a la descripcion clasica realizada por Aicardi-Goutieres. Debe tenerse en cuenta este sindrome ante un paciente con un cuadro de encefalopatia subaguda de comienzo en el primer ano de vida, distonia/espasticidad en grado variable e importante afectacion/regresion del desarrollo psicomotor, especialmente si asocia aumento de las pterinas (neopterina) en el liquido cefalorraquideo y calcificaciones en los ganglios basales.

Los trastornos paroxísticos son alteraciones episódicas con normalidad intercrítica. Pueden ser epilépticos y no epilépticos y se acompañan habitualmente de movimientos anómalos. Los trastornos paroxísticos (en gran parte el diagnóstico diferencial de la epilepsia), suponen uno de los capítulos más amplios de la Neuropediatría en la frecuencia de la demanda, por la gran variedad de problemas que plantean y por la trascendencia de muchos de ellos. El diagnóstico diferencial de los trastornos paroxísticos incluye reacciones vagales, síndromes suboclusivos intestinales o problemas que plantean riesgo vital, como los síncopes cardíacos. El diagnóstico erróneo de epilepsia supone hacer asumir un diagnóstico y tratamiento equivocados y no apurar la estrategia diagnóstica para descartar otras patologías, algunas de ellas de gran trascendencia, incluso vital. Con frecuencia el diagnóstico se obtiene por una minuciosa anamnesis de los episodios o la visualización en vídeo de los episodios. Debe insistirse en la historia familiar y debe preguntarse por la toma de fármacos. Cuando el diagnóstico es claro, no es necesaria la realización de exámenes complementarios. Pueden estar indicadas analíticas para descartar causas de crisis sintomáticas u otros trastornos del movimiento, como la tetania hipocalcémica. En algunos casos es obligatorio el estudio cardiológico. Es aconsejable en muchos casos la realización de un electroencefalograma (EEG). La neuroimagen, especialmente la resonancia magnética cerebral, está indicada en el estudio de la epilepsia y se debe realizar para descartar otras patologías en algunos TPNE como las disquinesias paroxísticas o el síndrome de hemiplejías alternantes. La mayoría de los TPNE no tienen tratamiento específico. Paroxysmal disorders are episodic events with normality between crisis. These can be epileptic or non-epileptic, and are usually accompanied by abnormal movements. The study of paroxysmal disorders (and the differential diagnosis of epilepsy) is one of the widest fields of Neuropaediatrics, due to the high number of referrals and the variety of problems and consequences that it brings. The differential diagnosis of paroxysmal disorders include vagal reactions, subocclusive syndrome due to intestinal malrotation or life threatening problems such as cardiac syncope. The erroneous diagnosis of epilepsy means accepting the wrong diagnosis and treatment and failing to rule out other pathologies that could be life threatening. The diagnosis of PNEs is generally based on a careful anamnesis or video images of the episodes. Family history and details of medication used must be queried. When the diagnosis is clear, no complementary examinations are necessary. Specific analysis can be indicated to rule out symptomatic causes or other movement disorders, such as hypocalcaemic tetany. In many cases EEG is well-advised. Brain imaging, particularly MRI is required in the study of epilepsy and to rule out others pathologies in PNEs such as paroxistic dyskinesias or the alternating hemiplegia syndrome. Most of the PNEs have no specific treatment.

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.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.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.

To make the charts of stature and head circumference of Spanish pediatric patients affected with neurofibromatosis type 1 (NF1), to compare them with the ones from a healthy population and to review the possible causes of its alterations.

The aim of this study was to analyze the neurological disorders in the Pediatric Intensive Care Unit (PICU) of the Hospital Infantil Miguel Servet in Zaragoza, Spain. Children admitted to the PICU between May 15, 1990 and December 1999 were studied. The information was obtained from the Neuropediatric Department's database, which includes all the children admitted to the PICU with neurological disorders.The study period was 9 years and 6 months. Of the 4507 children evaluated by the Neuropediatric Department, 591 were admitted to the PICU at least once, with a total of 711 admissions (32% of the 2198 admissions to the PICU). Sixty children with neurological disorders died in the PICU. The most frequent causes of admission were head injury in 212 (30%), admission following neurosurgical procedures in 127 (18%), convulsions in 110 (15%), acute encephalopathy in 72 (10%), respiratory insufficiency in 44 (6.1%) and injuries of types other than head injuries in 28% (4%).Neurological disorders represent a large part of the activity in our PICU. Some common disorders such as acute encephalopathy or convulsions are difficult to diagnose, given that they may be a manifestation of several neurological and non-neurological disorders. Some of the neurological disorders that require intensive care, such as head injury and several forms of acute encephalopathy, are associated with high morbidity and mortality.