[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.

[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.

Esquistosomiasis urogenital: un diagnóstico sencillo / Urogenital schistosomiasis: A simple diagnosis

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Diagnóstico retrospectivo de infección congénita por citomegalovirus en un caso clínico infantil / Retrospective diagnosis of congenital infection by cytomegalovirus int he case of one infant

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 (AU)

Introducción. Un 10-15% de las infecciones congénitas por citomegalovirus (CMV) asintomáticas en el período neonatal desarrollan problemas persistentes de gravedad variable, fundamentalmente afectación neurológica, hipoacusia neurosensorial e hipovisión, que se manifiestan a partir de los 6-9 meses, cuando ya no es posible efectuar el diagnóstico. La técnica de la PCR (del inglés, polymerase chain reaction) puede detectar el ADN del CMV en las muestras de sangre del papel de filtro que se emplean para el cribaje de hipotiroidismo y metabolopatías, guardadas desde el período neonatal. Caso clínico. Se trata de un niño de 3 años y 8 meses de edad con retraso de crecimiento intrauterino, autismo, retraso mental, microcefalia e hipoacusia neurosensorial, con calcificaciones periventriculares, leucoencefalopatía y malformación bilateral del lóbulo temporal, con confirmación diagnóstica de CMV congénito por detección del ADN mediante PCR en la sangre del papel de filtro guardado desde el período neonatal. Conclusiones. El estudio retrospectivo de infección congénita por CMV debería plantearse ante la presencia de gravedad y asociación variables de retraso de crecimiento intrauterino, microcefalia, hipoacusia neurosensorial, coriorretinitis, retraso mental, autismo u otros problemas de conducta, calcificaciones intracraneales, alteraciones encefaloclásticas, leucoencefalopatía, displasia cortical y malformaciones del lóbulo temporal y el hipocampo. Dado que los papeles de filtro de cribaje neonatal no se guardan indefinidamente, se plantea la posibilidad de hacerlo, dadas las posibilidades de estudios retrospectivos que ofrecen (AU)

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)