Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 26
Filtrar
Mais filtros










Intervalo de ano de publicação
3.
Rev Neurol ; 46(4): 194-6, 2008.
Artigo em Espanhol | MEDLINE | ID: mdl-18327740

RESUMO

INTRODUCTION: Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is a disease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. AIM: To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia. PATIENTS AND METHODS: We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. RESULTS: Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures (73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients required surgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. CONCLUSIONS: Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemic areas who visit because of clinical symptoms involving the central nervous system.


Assuntos
Neurocisticercose/diagnóstico , Neurocisticercose/epidemiologia , Adulto , Feminino , Hospitais , Humanos , Masculino , Estudos Retrospectivos , Espanha
4.
Rev. neurol. (Ed. impr.) ; 46(4): 194-196, 27 feb., 2008. ilus, tab
Artigo em Es | IBECS | ID: ibc-65416

RESUMO

La neurocisticercosis es la enfermedad parasitaria más frecuente del sistema nervioso central. Setrata de una enfermedad endémica de ciertos países de Sudamérica. Sin embargo, debido al fenómeno de la inmigración, ha aumentado su prevalencia en zonas desarrolladas debido a la llegada de inmigrantes procedentes de áreas endémicas. Objetivo.Presentar las características clínicas y demográficas de los casos de neurocisticercosis atendidos en un hospital terciario de la ciudad de Murcia. Pacientes y métodos. Estudio descriptivo, retrospectivo mediante revisión de historias clínicas de pacientes con diagnóstico hospitalario de neurocisticercosis en un período de nueve años (1997-2005). Se recogen los datosdemográficos y clínicos de estos pacientes. Resultados. Se estudiaron 23 pacientes (tres menores de 12 años). Edad media: 29,6 años. Países de origen: Ecuador y Bolivia. Las manifestaciones clínicas más frecuentes fueron: crisis epilépticas (73,9%),cefalea (39,1%) y focalidad neurológica (26,1%). Se utilizó albendazol en el 91,3% de los casos y corticoides en el 73,9%. De los pacientes que recibieron tratamiento antiepiléptico, el fármaco más utilizado fue la fenitoína. cuatro pacientes precisarontratamiento quirúrgico. En el período de seguimiento estaban asintomáticos el 52,8% de los pacientes. Conclusiones. La neurocisticercosis es una enfermedad cada vez más prevalente en España y que debemos sospechar en pacientes procedentes de zonasendémicas que consulten por clínica de afectación del sistema nervioso central


Neurocysticercosis is the most frequent parasitic disease affecting the central nervous system. It is adisease that is endemic to certain countries in South America. The phenomenon of immigration, however, has increased its prevalence in developed regions due to the arrival of immigrants from endemic areas. Aim. To present the clinical and demographic characteristics of the cases of neurocysticercosis attended in a tertiary care hospital in the city of Murcia.Patients and methods. We conducted a descriptive, retrospective study by reviewing the medical records of patients with a hospital diagnosis of neurocysticercosis over a nine-year period (1997-2005). Demographic and clinical data on these patients were collected. Results. Twenty-three patients (three under 12 years of age) were found. Mean age: 29.6 years. Countries of origin: Ecuador and Bolivia. The most frequently observed clinical manifestations were: epileptic seizures(73.9%), headache (39.1%) and neurological focus (26.1%). Albendazole was employed in 91.3% of cases and corticoids in 73.9%. The most frequently used drug in patients who received antiepileptic therapy was phenytoin. Four patients requiredsurgical treatment. During the follow-up period, 52.8% of the patients were asymptomatic. Conclusions. Neurocysticercosis is a disease that is becoming increasingly more prevalent in Spain and we should suspect its presence in patients from endemicareas who visit because of clinical symptoms involving the central nervous system


Assuntos
Humanos , Masculino , Feminino , Criança , Adulto , Neurocisticercose/epidemiologia , Atenção Terciária à Saúde , Infecções Parasitárias do Sistema Nervoso Central/epidemiologia , Emigração e Imigração/estatística & dados numéricos , Albendazol/uso terapêutico , Corticosteroides/uso terapêutico , Antiparasitários/uso terapêutico , Anticonvulsivantes/uso terapêutico
5.
Rev Neurol ; 43 Suppl 1: S209-16, 2006 Oct 10.
Artigo em Espanhol | MEDLINE | ID: mdl-17061193

RESUMO

INTRODUCTION: Advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have aroused renewed interest in these diseases in recent years. The vast degree of complexity involved in this pathology requires a great amount of effort in its diagnosis and, on many occasions, the need to resort to complex complementary examinations that can only be performed in specialised reference centres. AIMS. To review and outline the clinical features and diagnostic methods by drawing up a protocol to be followed in an attempt to offer care to these patients. Development and conclusions. We propose a diagnostic schema divided into three levels: the first level is based on the patient record, age at onset, and the signs and symptoms, which will enable us to establish the clinical suspicion of the type of IEM. On the second diagnostic level, the foregoing information is taken into account in order to decide whether it is advisable to carry out certain basal confirmatory tests in order to establish groups of biochemical patterns that allow us to get closer to an aetiological diagnosis. We believe that these basal tests should be available in most hospitals. A third level refers to employing specific diagnostic methods which are frequently carried out in reference centres. We also review metabolic encephalopathies that are associated to epilepsy and psychomotor or mental retardation due to their being the most common reasons for visits related to IEM in Neuropaediatric units.


Assuntos
Encefalopatias Metabólicas Congênitas/diagnóstico , Protocolos Clínicos , Adolescente , Criança , Pré-Escolar , Humanos , Lactente , Recém-Nascido
6.
Rev. neurol. (Ed. impr.) ; 43(supl.1): s209-s216, 10 oct., 2006. ilus, tab
Artigo em Es | IBECS | ID: ibc-052575

RESUMO

Introducción. Los avances en el diagnóstico y el tratamientode los errores congénitos del metabolismo (ECM) han reavivadoel interés por estas enfermedades en los últimos años. Laenorme complejidad de esta patología supone un gran esfuerzo enel diagnóstico y la necesidad de recurrir, en muchas ocasiones, aexámenes complementarios complejos que sólo se realizan en centrosde referencia especializados. Objetivo. Revisar y exponer laclínica y los métodos de diagnóstico mediante la elaboración de unprotocolo de actuación para intentar facilitar la asistencia a estospacientes. Desarrollo y conclusiones. Proponemos un esquema diagnósticoen tres niveles: un primer nivel basado en la historia clínica,la edad de presentación, los signos y los síntomas, con el queestableceremos la sospecha clínica del tipo de ECM. Un segundonivel diagnóstico en el que, teniendo en cuenta los datos obtenidospreviamente, se valorará la realización de unos tests confirmatoriosbasales para establecer grupos de patrones bioquímicos que nosacercan más al diagnóstico etiológico. Pensamos que estas pruebasbasales deberían estar disponibles en la mayoría de los hospitales.Un tercer nivel se refiere a la realización de métodos diagnósticosespecíficos y que habitualmente se llevan a cabo en centros de referencia.Revisamos también aquellas encefalopatías metabólicasasociadas a epilepsia y retraso psicomotor o mental por ser losmotivos de consulta más frecuentes asociados a ECM en Neuropediatría


Introduction. Advances in the diagnosis and treatment of inborn errors of metabolism (IEM) have aroused renewedinterest in these diseases in recent years. The vast degree of complexity involved in this pathology requires a great amount ofeffort in its diagnosis and, on many occasions, the need to resort to complex complementary examinations that can only beperformed in specialised reference centres. Aims. To review and outline the clinical features and diagnostic methods bydrawing up a protocol to be followed in an attempt to offer care to these patients. Development and conclusions. We proposea diagnostic schema divided into three levels: the first level is based on the patient record, age at onset, and the signs andsymptoms, which will enable us to establish the clinical suspicion of the type of IEM. On the second diagnostic level, theforegoing information is taken into account in order to decide whether it is advisable to carry out certain basal confirmatorytests in order to establish groups of biochemical patterns that allow us to get closer to an aetiological diagnosis. We believethat these basal tests should be available in most hospitals. A third level refers to employing specific diagnostic methods whichare frequently carried out in reference centres. We also review metabolic encephalopathies that are associated to epilepsy andpsychomotor or mental retardation due to their being the most common reasons for visits related to IEM in Neuropaediatricunits


Assuntos
Criança , Humanos , Erros Inatos do Metabolismo/diagnóstico , Protocolos Clínicos , Deficiência Intelectual/complicações , Epilepsia/complicações , Neurologia , Pediatria , Encefalopatias Metabólicas/complicações
7.
Rev Neurol ; 42(2): 91-4, 2006.
Artigo em Espanhol | MEDLINE | ID: mdl-16450323

RESUMO

INTRODUCTION: Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does not affect its effectiveness as an antiepileptic, it does account for certain side effects such as nephrolithiasis. The frequency of nephrolithiasis secondary to TPM in childhood is unknown and we have only found reports of five cases in children. CASE REPORTS: We describe two cases of medication-resistant infantile epilepsy--a 3-year-old female with Dravet's syndrome and a male aged 4.5 years with Lennox-Gastaut syndrome. In both cases the decision was made to introduce TPM as add-on therapy after a prolonged therapeutic programme; a high degree of effectiveness was achieved in both patients. Nevertheless, the two patients developed nephrolithiasis secondary to TPM, which in the second case was related to the simultaneous treatment with adrenocorticotropic hormone (ACTH), while no known favouring factor was found in the first patient. CONCLUSIONS: We outline the physiopathogenic mechanism explaining nephrolithiasis secondary to TPM, the risk factors involved and the therapeutic and preventive options available in dealing with this side effect, which occurs in a low percentage of cases but which usually means stopping administration of this therapy. We therefore believe it necessary to analyse the risk factors for nephrolithiasis before prescribing the drug and we suggest that generalised preventive measures should be implemented, especially in children who are carriers of encephalopathies or conditions that reduce mobility.


Assuntos
Anticonvulsivantes , Epilepsia/tratamento farmacológico , Frutose/análogos & derivados , Cálculos Urinários/induzido quimicamente , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Pré-Escolar , Feminino , Frutose/efeitos adversos , Frutose/uso terapêutico , Humanos , Masculino , Topiramato , Cálculos Urinários/patologia
8.
Rev. neurol. (Ed. impr.) ; 42(2): 91-94, 16 ene., 2006. ilus
Artigo em Es | IBECS | ID: ibc-043918

RESUMO

Introducción. El topiramato (TPM) es un nuevo antiepiléptico cuyo mecanismo de acción múltiple justifica tanto su amplio espectro terapéutico como su empleo cada vez mayor en la epilepsia infantil. Aunque no influye en su eficacia antiepiléptica, el TPM inhibe la anhidrasa carbónica, efecto que es el responsable de reacciones adversas como la nefrolitiasis. La frecuencia de la nefrolitiasis secundaria al TPM en la infancia es desconocida y únicamente hemos encontrado cinco casos comunicados en niños. Casos clínicos. Se presentan dos casos de epilepsia infantil refractaria al tratamiento farmacológico, una niña de 3 años con síndrome de Dravet y un niño de 4,5 años con síndrome de Lennox-Gastaut, en los que después de un prolongado programa terapéutico se decide introducir TPM en terapia añadida, obteniendo en ambos pacientes un elevado grado de eficacia. No obstante, los dos desarrollan nefrolitiasis secundaria al TPM, que en el segundo caso relacionamos con el tratamiento simultáneo con hormona corticotropa (ACTH) no existiendo un factor favorecedor conocido en el primero. Conclusiones. Se hace una exposición del mecanismo fisiopatogénico de la nefrolitiasis secundaria al TPM, de los factores de riesgo implicados y de las opciones terapéuticas y preventivas de este efecto adverso, que representa un porcentaje muy bajo, pero que obliga usualmente a prescindir de esta alternativa terapéutica, por lo que creemos que se deben analizar los factores de riesgo de nefrolitiasis antes de prescribir este fármaco y que se deben generalizar las medidas preventivas, especialmente en los niños portadores de encefalopatías o de patologías que reduzcan la movilidad (AU)


Introduction. Topiramate (TPM) is a new antiepileptic drug whose multiple mechanisms of action justify both its broad therapeutic spectrum and its increasingly widespread use in childhood epilepsy. TPM acts as a carbonic anhydrase inhibitor and, although this does not affect its effectiveness as an antiepileptic, it does account for certain side effects such as nephrolithiasis. The frequency of nephrolithiasis secondary to TPM in childhood is unknown and we have only found reports of five cases in children. Case reports. We describe two cases of medication-resistant infantile epilepsy – a 3-year-old female with Dravet’s syndrome and a male aged 4.5 years with Lennox-Gastaut syndrome. In both cases the decision was made to introduce TPM as add-on therapy after a prolonged therapeutic programme; a high degree of effectiveness was achieved in both patients. Nevertheless, the two patients developed nephrolithiasis secondary to TPM, which in the second case was related to the simultaneous treatment with adrenocorticotropic hormone (ACTH), while no known favouring factor was found in the first patient. Conclusions. We outline the physiopathogenic mechanism explaining nephrolithiasis secondary to TPM,the risk factors involved and the therapeutic and preventive options available in dealing with this side effect, which occurs ina low percentage of cases but which usually means stopping administration of this therapy. We therefore believe it necessaryto analyse the risk factors for nephrolithiasis before prescribing the drug and we suggest that generalised preventivemeasures should be implemented, especially in children who are carriers of encephalopathies or conditions that reduce mobility (AU)


Assuntos
Masculino , Feminino , Lactente , Humanos , Anticonvulsivantes/efeitos adversos , Anticonvulsivantes/uso terapêutico , Epilepsia/tratamento farmacológico , Frutose/análogos & derivados , Cálculos Urinários/induzido quimicamente , Frutose/efeitos adversos , Frutose/uso terapêutico , Cálculos Urinários/patologia
9.
Rev Neurol ; 35 Suppl 1: S21-9, 2002 Sep.
Artigo em Espanhol | MEDLINE | ID: mdl-12373651

RESUMO

INTRODUCTION: Transient cognitive disorder (TCD) defines the existence of a decrease in reaction time that coincides with an epileptiform EEG discharge, without any simultaneous manifestation of a classical epileptic seizure. Aims. To analyse the relation between episodes of TCD and the neurolopsychological manifestations in infancy that condition a high percentage of neuropaediatric visits to the surgery. At the same time we analyse the relation between the interictal paroxysmal disorders of patients with childhood benign partial idiopathic epilepsy with centrotemporal spikes (BIE CS) and the neurolopsychological manifestations that are frequently detected in such patients. PATIENTS AND METHODS: Two groups of patients were studied. Group A: 23 children who sought medical attention because of different neurolopsychological disorders (language retardation, hyperactivity, lack of attention, retarded academic achievement, behavioural disorders, bad social interaction); gender: 16 males and 7 females; age interval: from 2 years and 10 months to 11 years and 1 month (average age: 6 years and 8 months). Group B: 10 patients who were BIE CS carriers, two of which evolved toward atypical BIE; gender: 5 males and 5 females; age interval: from 3 years and 3 months to 9 years and 9 months (average age: 7 years and 4 months). Both groups were submitted to a clinical examination protocol involving neurological, EEG, child psychiatric and psychological aspects. RESULTS: In group A, sub clinical paroxysmal EEG discharges were seen in three cases, two of which corresponded to a lack of attention disorder with hyperactivity, and the third had a generalised growth disorder. In group B we detected a high percentage of perceptive and psychomotor disorders, without the existence of differences between those who displayed an irritative focus in the right or in the left hemisphere, although the alteration in the level of language was greater in the latter. Likewise, in a large percentage of cases (80%) the evaluation of the level of personality revealed obvious anxiety traits, which were related with suffering from seizures. CONCLUSIONS: Sufficient evidence has been found to demonstrate the existence of the possible relation between different neuropsychological disorders and epileptic EEG discharges, although revealing it in daily clinical practice requires a thorough diagnostic protocol and an accurate neuropsychological examination under video EEG monitoring, the positive results of which are considered to be decisive in evaluating the possibility of pharmacological treatment.


Assuntos
Transtornos Cognitivos/fisiopatologia , Eletroencefalografia , Epilepsia do Lobo Frontal/fisiopatologia , Transtornos Psicomotores/fisiopatologia , Tempo de Reação , Criança , Pré-Escolar , Transtornos Cognitivos/diagnóstico , Diagnóstico Diferencial , Epilepsia do Lobo Frontal/diagnóstico , Epilepsia do Lobo Frontal/genética , Feminino , Humanos , Masculino , Testes Neuropsicológicos , Transtornos Psicomotores/diagnóstico , Gravação de Videoteipe
10.
Rev. neurol. (Ed. impr.) ; 35(supl.1): 21-29, 9 sept., 2002.
Artigo em Es | IBECS | ID: ibc-22470

RESUMO

Introducción. La afectación o alteración cognitiva transitoria (ACT) define la existencia de un descenso del tiempo de reacción coincidente con una descarga epileptiforme en el registro electroencefalográfico, sin manifestación simultánea de una crisis epiléptica clásica. Objetivo. Analizar la relación fisiopatogénica entre los episodios de ACT y las manifestaciones neuropsicológicas infantiles que condicionan un elevado porcentaje de consultas neuropediátricas. Simultáneamente se analiza la relación existente entre las alteraciones paroxísticas interictales de pacientes con epilepsia parcial idiopática benigna de la infancia con puntas centrotemporales (EPBICT) y las manifestaciones neuropsicológicas que frecuentemente se detectan en dichos pacientes. Pacientes y métodos. Se estudian dos grupos de pacientes. Grupo A: 23 niños que consultan por alteraciones neuropsicológicas diversas (retraso del lenguaje, hiperactividad, déficit de atención, retraso del rendimiento escolar, alteración de conducta, mala interacción social); sexo: 16 de sexo masculino y siete de sexo femenino; intervalo de edad: de 2 años y 10 meses a 1 años y 1 mes (edad media: 6 años y 8 meses). Grupo B: 10 pacientes portadores de EPBICT, dos de los cuales evolucionan hacia EPBI atípica; sexo: cinco de sexo masculino y cinco de sexo femenino; intervalo de edad: de 3 años y 3 meses a 9 años y 9 meses (edad media: 7 años y 4 meses). En ambos grupos se aplicó un protocolo de examen clínico neurológico, electroencefalográfico, paidopsiquiátrico y psicólogico. Resultados. En el grupo A se constatan descargas paroxísticas subclínicas EEG en tres, dos de ellos correspondientes a un trastorno de déficit de atención con hiperactividad, y el tercero, a un trastorno generalizado del desarrollo. En el grupo B se detecta un alto porcentaje de alteraciones en el nivel perceptivo y psicomotor, sin existir diferencias entre los que muestran el foco irritativo en el hemisferio derecho o en el izquierdo, aunque en éstos últimos es mayor la alteración del nivel del lenguaje. Asimismo se comprueba en la valoración del nivel de personalidad un elevado porcentaje de casos (80 por ciento) con rasgos evidentes de ansiedad, que se relacionan con la vivencia de las crisis. Conclusiones. La posible relación entre diferentes alteraciones neuropsicológicas y descargas epilépticas en el registro EEG se ha demostrado suficientemente, aunque su hallazgo en la práctica clínica diaria requiere un protocolo diagnóstico riguroso y precisa exploración neuropsicológica bajo monitorización vídeo-EEG, cuyos resultados positivos se consideran determinantes para valorar la posibilidad de tratamiento farmacológico. (AU)


Assuntos
Pré-Escolar , Masculino , Feminino , Humanos , Criança , Tempo de Reação , Eletroencefalografia , Transtornos Psicomotores , Diagnóstico Diferencial , Transtornos Cognitivos , Gravação de Videoteipe , Epilepsia do Lobo Frontal , Testes Neuropsicológicos
11.
Rev Neurol ; 33(5): 443-7, 2001.
Artigo em Espanhol | MEDLINE | ID: mdl-11727213

RESUMO

INTRODUCTION: The neuroaxonal dystrophies make up a group of neurodegenerative disorders of unknown origin, which are characterized by all showing axonal lesions. The infantile form, or Seitelberger s disease, is one of the forms of earliest onset and rapid progression. The clinical, neurophysiological and pathological criteria described by Aicardi and Castelein in 1979 are still valid. However, we should emphasise the great usefulness of cerebral MR scanning in making an early diagnosis of this condition. CLINICAL CASES: We report two brothers, sons of consanguineous parents, who fulfilled the above clinical criteria. Their illness presented before the age of three years, with arrested psychomotor development followed by regression, an initial hypotonia syndrome which progressed to spastic tetraplegia, optic atrophy and progressive deafness, blindness and dementia. Neurophysiological findings were of central conduction disorders, and chronic denervation was shown on EMG. On EEG there were high frequency, high voltage rhythms. MR scanning showed the cerebral cortex to become atrophied and hyperintense at an early stage. On biopsy of the sural nerve and of skin there was spheroid swelling of the axons with tubulous vesicular material seen in myelinated and nonmyelinated axons. CONCLUSIONS: We reviewed the literature published over the past ten years (1990 2000). From this we conclude that on the initial clinical and neurophysiological criteria of Aicardi and with the aid of current neuroimaging techniques, the diagnosis may be suspected sufficiently early so as to permit genetic counselling. This would help to avoid further, high risk pregnancies, even before the diagnosis had been confirmed by the biopsy findings.


Assuntos
Encéfalo/patologia , Distrofias Neuroaxonais/patologia , Atrofia/patologia , Cerebelo/patologia , Eletroencefalografia , Eletromiografia , Epilepsia Generalizada/diagnóstico , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Índice de Gravidade de Doença
12.
Rev. neurol. (Ed. impr.) ; 33(5): 443-447, 1 sept., 2001.
Artigo em Es | IBECS | ID: ibc-27179

RESUMO

Introducción. Las distrofias neuroaxonales constituyen un grupo de enfermedades neurodegenerativas de origen desconocido, que se caracterizan por una común lesión axonal. La forma infantil o enfermedad de Seitelberger es una de las formas de presentación más precoz y de rápida evolución. Los criterios clínicos, neurofisiológicos y patológicos enunciados por Aicardi y Castelein en 1979 siguen vigentes. Resaltamos, sin embargo, la importante ayuda, que para un diagnóstico precoz, ha supuesto la RM cerebral. Casos clínicos. Presentamos dos hermanos hijos de padres consanguíneos, que cumplen los criterios clínicos referidos anteriormente, con un comienzo de la enfermedad anterior a los 3 años de edad, detención de las adquisiciones psicomotrices, con posterior regresión, síndrome hipotónico inicial con evolución a la tetraplejía espástica, atrofia óptica y progresivo cuadro de sordera, ceguera y demencia. Neurofisiológicamente se constatan los trastornos de la conducción central y denervación crónica en el EMG. El EEG muestra presencia de ritmos de alta frecuencia y alto voltaje. La RM evidenció precozmente la atrofia y hiperintensidad cortical cerebelosas. La biopsia de nervio sural y piel puso de manifiesto los hinchamientos axonales esferoides con material tubulovesicular en axones mielínicos y amielínicos. Conclusión. Hemos revisado la literatura de los últimos 10 años (1990-2000) y podemos concluir que con los iniciales criterios clínicos y neurofisiológicos de Aicardi y la ayuda de las actuales técnicas de neuroimagen, la sospecha diagnóstica puede ser lo suficientemente precoz como para permitir el consejo genético, que evite nuevos embarazos de riesgo, incluso antes de obtener la confirmación del diagnóstico por la biopsia (AU)


Assuntos
Masculino , Lactente , Feminino , Humanos , Distrofias Neuroaxonais , Atrofia , Cerebelo , Imageamento por Ressonância Magnética , Eletroencefalografia , Eletromiografia , Epilepsia Generalizada , Índice de Gravidade de Doença , Telencéfalo
13.
Hum Mol Genet ; 7(8): 1327-32, 1998 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-9668176

RESUMO

Subcortical band heterotopia (SBH) and classical lissencephaly (LIS) result from deficient neuronal migration which causes mental retardation and epilepsy. A single LIS/SBH locus on Xq22.3-q24 was mapped by linkage analysis and physical mapping of the breakpoint in an X;2 translocation. A recently identified gene, doublecortin ( DCX ), is expressed in fetal brain and mutated in LIS/SBH patients. We have identified four novel missense mutations in the gene, one familial mutation with LIS in a male and SBH in the carrier females, one de novo mutation in an SBH female, and two mutations in sporadic SBH female patients. The DCX gene is found to be expressed exclusively at a very high level in the adult frontal lobe. We have also cloned the X-linked mouse doublecortin (Dcx) gene. It encodes isoforms of a highly hydrophilic 40 kDa protein, homologous to its human counterpart and containing several potential phosphorylation sites. Both human and mouse DCX proteins are homologous to a CNS protein containing a Ca2+/calmodulin kinase domain, suggesting that the DCX protein may belong to a novel class of intracellular proteins involved in neuronal migration through Ca2+-dependent signaling.


Assuntos
Movimento Celular/genética , Epilepsia/genética , Deficiência Intelectual/genética , Proteínas Associadas aos Microtúbulos , Neurônios/patologia , Neuropeptídeos/genética , Cromossomo X , Adulto , Sequência de Aminoácidos , Animais , Cálcio/metabolismo , Proteínas do Domínio Duplacortina , Proteína Duplacortina , Epilepsia/metabolismo , Epilepsia/patologia , Feminino , Ligação Genética , Humanos , Deficiência Intelectual/metabolismo , Deficiência Intelectual/patologia , Masculino , Camundongos , Dados de Sequência Molecular , Homologia de Sequência de Aminoácidos , Transdução de Sinais/genética
14.
Rev Neurol ; 27(160): 988-91, 1998 Dec.
Artigo em Espanhol | MEDLINE | ID: mdl-9951021

RESUMO

INTRODUCTION: The carpal tunnel syndrome (CTS) is the commonest neuropathy due to compression to be seen in adults. There are very few cases in the literature referring to patients of paediatric age, particularly those under ten years old. Most of these young patients had a metabolic disorder (mucopolysaccharidosis (MPS) or mucolipidosis (ML). In fact, as many as 90% of the MPS had CTS, sometimes subclinically. This syndrome is caused by compression of the median nerve at the level of the carpal tunnel, to which multiple factors may contribute, both local and systemic, as reviewed in this paper. The clinical findings differ from those in adults, but the appearance of suggestive symptoms and signs should make one suspect the condition and request an electromyographic study (EMG) which would be diagnostic. CLINICAL CASE: We describe the case of a five year old girl, with a clinical history suggesting the presence of a carpal tunnel syndrome for 12 months and characterized by paraesthesia and limitation of flexon-extension movements of the fingers of the affected hand, with pain on movement. The symptoms appeared on waking in the morning, gradually improved as the day advanced and became bilateral over a period of six months. The diagnosis was confirmed by EMG and MR helped to clarify the aetiology. CONCLUSION: The interesting aspect of this article is the youth of the patient, the absence of known etiological factors and the presence of tenosynovitis detected on MR as has been described in some idiopathic/familial forms.


Assuntos
Síndrome do Túnel Carpal/diagnóstico , Fatores Etários , Criança , Diagnóstico Diferencial , Eletromiografia , Feminino , Humanos , Imageamento por Ressonância Magnética , Tenossinovite/diagnóstico , Punho/inervação
15.
An Esp Pediatr ; 36(5): 355-8, 1992 May.
Artigo em Espanhol | MEDLINE | ID: mdl-1616193

RESUMO

Dermoid cysts of the anterior fontanel present as a tumor lesion that tenses up when the child cries or strains. Their midline position in the skull, the fact that some of these cysts contain clear fluid and the presence of an underlying bone defect, lead the clinician to the erroneous diagnosis of encephalocele, for which they are sent for consultation. We report a series of five of these cysts (3 dermoid and 2 epidermoid) located over the anterior fontanel, remark on their clinical significance, and stress their differential diagnosis from encephalocele and from other tumor lesions of the anterior fontanel.


Assuntos
Cisto Dermoide/diagnóstico , Encefalocele/diagnóstico , Neoplasias Cranianas/diagnóstico , Adolescente , Criança , Pré-Escolar , Cisto Dermoide/congênito , Diagnóstico Diferencial , Humanos , Lactente , Neoplasias Cranianas/congênito
17.
An Esp Pediatr ; 35(1): 7-11, 1991 Jul.
Artigo em Espanhol | MEDLINE | ID: mdl-1772178

RESUMO

In recent literature the question of the convenience of neurosurgical treatment of cranial depressed fracture of the newborn has been a subject of discussion. The authors review their experience with 4 cases of this condition, that stress the necessity of the operation. Most reported series have dealt with the short-term results of the different ways of treatment. In this article the outcome is evaluated at least 10 years after surgery.


Assuntos
Traumatismos do Nascimento/diagnóstico por imagem , Fraturas Cranianas/etiologia , Traumatismos do Nascimento/cirurgia , Criança , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Masculino , Fraturas Cranianas/diagnóstico por imagem , Fraturas Cranianas/cirurgia , Tomografia Computadorizada por Raios X
20.
An Esp Pediatr ; 28(6): 503-7, 1988 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-2461673

RESUMO

Twenty-six cases of neonatal meningitis in term newborns are studied. Incidence, etiological features, treatment, clinical and biochemical evolution and mortality are analysed. Lief motif of this paper is the search for deficits in psychomotor growth in propositi of four and six years old, finding an important relation between neonatal bacterial meningitis and neuropsychological deficits (hyperkinesia, perceptive area impairment, reading-writing disorders, etc.) in contrast to the good evolution of lymphocytic meningitis.


Assuntos
Deficiências do Desenvolvimento/etiologia , Inteligência , Meningite/complicações , Desempenho Psicomotor/fisiologia , Seguimentos , Humanos , Recém-Nascido , Meningite/microbiologia , Meningite/fisiopatologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...