Resumen Objetivo: estudiar el valor predictivo del examen clínico temprano y perfil evolutivo, en el neurodesarrollo de recién nacidos de término con asfixia perinatal. Población y método: se realizó estudio longitudinal prospectivo de 24 recién nacidos que sufrieron asfixia perinatal. Se realizó seguimiento con equipo interdisciplinario. Se consideraron, según el examen neurológico por criterios de Amiel Tison, recién nacidos con alteraciones leves, moderadas y severas. Se catalogaron entre los12 y 18 meses, según el examen neurológico y el grado de dependencia para las actividades de la vida diaria, en normales, con alteraciones leves y severas El desarrollo cognitivo se evaluó con el test de Bayley. En todos se realizó intervención con equipo multidisciplinario. Resultados: el examen neurológico de los recién nacidos evidenció alteraciones leves en 62%, moderadas en 21%, y severas en 17%. Entre los 12 y 18 meses, el examen fue normal en el 58%, 17%presentó alteraciones leves, y 25% lesiones severas. El rendimiento cognitivo es concordante con el examen neurológico. Conclusiones: el examen neurológico temprano puede ser orientador del pronóstico. Cuando la alteración es leve y presenta un perfil evolutivo dinámico, en la etapa neonatal, se obtiene examen normal en estos pacientes entre los 12 y 18 meses con valor predictivo de 75%. Los recién nacidos con alteraciones severas en el examen al nacer y perfil evolutivo estático, mantienen lesiones severas en nuestra muestra a los 18 meses

Objective: to study the predictive value of early clinical examination and evolutive profile in the neurodevelopment of term-newborns with perinatal asphyxia. Methods and population: a prospective longitudinal study was made including twenty four newborns who suffered perinatal asphyxia. Follow-up with an interdisciplinary team was performed. Newborns were evaluated and included according to Amiel Tison criteria for neurologic examination into the categories of mild, moderate and severe alterations. At the age of 12 to 18 month they were re-evaluated and classified according to their examination neurologic, and grade of dependency for activities of daily life into normal, or with mild, and severe sequelae. The cognitive evaluation was performed the test Bayley. All of them received physiotherapy as part of their treatment. Results: newborn neurologic examination has proved 62% mild, 21% moderate and 17% severe alterations. Between 12 and 18 months, 58% had normal clinical examination, 17% showed mild and 25% severe sequelae. Results of cognitive evaluation are in agreement with clinical examination. Conclusions: results of early neurological examination, can be an orientative prognostical factor in case of mild sequelae and when a dynamic evolutive profile is present in the perinatal period; showing normal clinical examination at age 12 to 18 months with a 75% predictive value. Newborns with severe alterations at birth and static evolutive profile, still have severe lesions at 18 months, without statistical significance in our sample

Resumen Se presenta el caso clínico de una enfermedad pediátrica poco frecuente. Se trata de una niña de 7 años con un desarrollo neurológico alterado y sintomatología cerebelosa que agrega síntomas respiratorios crónicos a la que se le diagnostica síndrome de Louis-Bar (ataxia-telangiectasia). Se le realizó paraclínica tendiente a confirmar dicho diagnóstico y se inició el tratamiento paliativo disponible. Falleció a los 9 años de edad. Se revisa la etiopatogenia y los criterios diagnósticos de la enfermedad

Summary The clinical case of an uncommon pediatric illness is presented. A 7 year old girl with an abnormal neurological development and cerebellum symptoms who added chronic respiratory symptoms was diagnosed with Louis-Bar syndrome (ataxia-telangiectasia). Laboratory studies were performed in order to confirm diagnosis, and available palliative treatment was started. She died at the age of 9. Etiology and diagnostic criteria are reviewed

INTRODUÇÃO: A via mais importante de metabolização da carbamazepina (CBZ) é feita pelo sistema citocromo P450 (CYP), sendo o CYP3A4 a enzima mais importante no processo de formação do 10,11-epóxido-carbamazepina (EPOX), o qual é o principal produto deste processo de biotransformação. Existe evidência da eliminação dose-dependente desta droga devido à sua capacidade de auto-indução. Trabalhos publicados mostraram uma biodisponibilidade incompleta da CBZ uma vez que sua absorção aumenta com a administração de suco de pomelo (grapefruit). O CYP3A4 e MRP2 (localizado no enterócito) são auto-induzidos durante o uso prolongado da CBZ. Uma vez que as outras enzimas envolvidas no metabolismo da CBZ são insignificantes no intestino, a biotransformação pelo CYP3A4 poderia ser responsável pela biodisponibilidade da droga, assim como pela formação de EPOX. OBJETIVO: Avaliar a importância da formação pré-sistêmica do EPOX durante a auto-indução da CBZ em comparação com a dose diária administrada. PACIENTES E MÉTODOS: 40 adultos (idade média: 28 anos) e 29 crianças (idade média: 9 anos) em uso de CBZ em monoterapia foram incluídos no estudo. Concentrações de CBZ e EPOX no plasma foram analisadas utilizando um método de HPLC previamente validado. RESULTADOS E CONCLUSÕES: Os resultados obtidos confirmam a indução metabólica durante a administração crônica da CBZ e fornecem novos elementos que sugerem uma forte contribuição da biodisponibilidade dose-dependente na cinética não linear da CBZ.

INTRODUCTION: Carbamazepine (CBZ) undergoes biotransformation, being CYP3A4 the major cytocrome P450 (CYP) enzyme catalyzing the carbamazepine-10,11-epoxide (EPOX) formation, which is quantitatively the most important pathway in CBZ metabolism. There is evidence of dose-dependent elimination of this drug due to its autoinduction capacity. Moreover, published data showed an incomplete bioavailability of CBZ since its absorption increases when grapefruit juice was administered. Both CYP3A4 and MRP2 (located in the enterocyte) are autoinduced during long term use of CBZ. As the other enzymes involved in CBZ metabolism are negligible in the gut, presystemic biotransformation through CYP3A4 could be responsible for the bioavailability of the drug as well as EPOX formation. OBJECTIVE: The purpose of our study was to assess the importance of presystemic formation of EPOX during the autoinduction of CBZ versus the daily administered dose. PATIENTS AND METHODS: 40 adults (average age: 28 years) and 29 children (average age: 9 years) receiving CBZ as monotherapy were included in the study. CBZ and EPOX plasma concentrations were analyzed by a previous validated HPLC method. RESULTS AND CONCLUSION: The results obtained confirmed the metabolic induction after chronic administration and provided new elements to suggest a strong contribution of dose-dependent bioavailability in the non linear kinetics of CBZ.

Resumen La parálisis facial periférica aguda “idiopática” tiene una incidencia que varía entre 11,5 y 40,2 casos por 100.000 habitantes/año. La mayor parte de los pacientes recupera espontáneamente la función en los dos o tres meses siguientes a la instalación de la parálisis; sin embargo, en un 15% de los casos pueden persistir secuelas o recidivar. La elevada frecuencia y el impacto psicosocial que determina, hacen que sea una enfermedad de interés. En su etiopatogenia actualmente se insiste en la existencia de una infección por virus del grupo herpes simple. El objetivo es analizar la presentación clínica, evolución, tratamiento y existencia de recidivas en los niños entre un mes y 14 años, que consultaron por parálisis facial periférica aguda en el Servicio de Neuropediatría del Centro Hospitalario Pereira Rossell. Se trata de un estudio retrospectivo, descriptivo. Se analizaron 69 historias clínicas de niños que consultaron por parálisis facial periférica aguda idiopática (PFPAI) en el período comprendido entre el 1 de abril de 2001 y el 1 de abril de 2003. En casi la mitad de los casos existió un proceso infeccioso previo. La recuperación varió entre 4 y 180 días, no evidenciándose una relación entre la precocidad de la consulta y el tiempo de recuperación, ni con el tratamiento recibido. Cinco pacientes presentaron recidiva. En nuestro medio no hay estudios sobre tratamientos con antivirales en niños. Sería de interés su realización para poder valorar su eficacia en relación a la recuperación y a evitar las recidivas

Summary Idiopathic acute lower motor neurone facial nerve palsy has an incidence which varies between 11,5 and 40,2 cases per 100.000 inhabitants/year. Most of these patients have a spontaneous full function recovery in the following 2 or 3 months; nevertheless in 15% of the cases sequels or relapses can occur. The high frequency and the psychosocial impact that generates makes it a very interesting pathology. Herpes simplex virus infection has been implicated in the pathogenesis of this disease. The objective of this study is to analyze the clinical manifestations, outcomes, treatment and relapses in children between 1 month and 14 years of age who visited the Neuropediatric Service of the "Centro Hospitalario Pereira Rossell" with this pathology. This is a descriptive, retrospective study. 69 histories of children who were attended in a two year period between April 1st 2001 and April 1st 2003 were analyzed. In nearly half of the cases a previous infectious process existed. The recovery period varied between 4 and 180 days with no relationship with an early visit to the physician nor with the treatment received. 5 patients relapsed. There are no clinical studies in our country using antiviral treatment in children. It will be very interesting to design one in order to demonstrate its efficiency in improving the outcome and preventing relapses

Objetivos: estudiar las características clínicas de relevancia de la migraña en los niños y determinar su incidencia como etiología de las cefaleas en la consulta neuropediátrica. Material y métodos: se realizó un estudio prospectivo de aquellos pacientes que consultaron durante el período enero/2002 a enero/2003 en la Policlínica de Cefaleas del Servicio de Neuropediatría del Hospital Pereira Rossell. Para el diagnóstico de migraña se siguieron las recomendaciones de la Sociedad Internacional de Cefaleas modificadas por Seshia. Resultados: de 153 pacientes que consultaron en la policlínica el 35% correspondió a pacientes con migraña; 58,8% a pacientes con cefalea tensional y 5,88% a pacientes con sinusitis maxilar. El inicio de los síntomas fue durante la edad escolar. La intensidad de las cefaleas en el 72% fue de grado moderado. La duración del dolor en el 61% fue inferior a 60 minutos. La topografía predominante fue la bilateral. El dolor tipo pulsátil predominó en el 83%. La frecuencia de los episodios en el 72% fue semanal o quincenal. El 100% de los pacientes presentaron como síntomas acompañantes náuseas, vómitos, fotofobia, palidez y sueño. El aura se constató en la mitad de los pacientes. Se comprobaron antecedentes familiares de migraña en todos los pacientes. El rendimiento académico no fue afectado por la enfermedad. Conclusiones: la migraña constituye el 35% de las cefaleas en la consulta neuropediátrica. En el niño la migraña se caracteriza por un dolor pulsátil, bilateral, de menos de 1 hora de duración, acompañado siempre por síntomas neurovegetativos. Evoluciona de forma aguda y recurrente con períodos asintomáticos prolongados.

Objectives: to study the most important clinic characteristics of migraine during infancy and to determine its incidence as a cause of headache in the neuropediatric office. Material and methods: a prospective study was performed including those patients whom consulted in the outpatient clinic of the Department of Neuropediatry, Hospital Pereira Rossell, during the period January/2002 - January/2003. Migraine was diagnosed according to the recommendations of the International Headache Society, modified by Seshia. Results: one hundred fifty three patients consulted during the study period. Thirty-five percent corresponded to patients with migraine; 58,8% to patients with tension headache and 5,88% of the patients was diagnosed as maxillary sinusitis. The beginning of symptoms was during school age. In 72%, the intensity of the headache was moderate. Pain lasted less than one hour in 61% and was bilateral in most of the cases. The predominant type of pain was pulsating in 83% of patients. Attacks were weekly or fortnightly in 72%. All patients presented as accompanying symptoms nausea, vomiting, photophobia, pallor and drowsiness. Aura was present in half of the population studied. All patients had family history of migraine. The academic performance was not affected. Conclusions: migraine represents the 35% of headaches consulting as outpatients in the neuropediatric office. In children, a bilateral and pulsating pain, lasting less than 1 hour in 61% of patients, characterizes migraine. Neurovegetative symptoms are always present as accompanying symptoms. The clinical course of migraine in children is characterized by acute and recurrent crisis separated by symptoms-free intervals.