[Nephrolithiasis and topiramate]. / Nefrolitiasis y topiramato.

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.

Nefrolitiasis y topiramato / Nephrolithiasis and topiramate

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)

Epilepsia benigna de la infancia con punta centrotemporal / Benign childhood epilepsy with centrotemporal peak

Se lleva a cabo un análisis del síndrome epiléptico más frecuente en la edad infantil, la Epilepsia Benigna de la Infancia con Punta Centrotemporal (EBICT), conocida desde hace casi cincuenta años en virtud de la escuela epileptológica francesa. Debe entenderse como el ejemplo genuino de las epilepsias parciales benignas y sirve para demostrar, asimismo, cómo no en todas las epilepsias deben emplearse fármacos antiepilépticos (FAEs), pudiendo incluso ser éstos un factor responsable del empeoramiento de las mismas, circunstancia que alcanza un máximo interés en éste síndrome. Se exponen los razonamientos que permiten plantear dudas sobre la aceptación del frecuentemente aceptado pronóstico benigno del síndrome, dado que es conocida la posible aparición de diferentes complicaciones evolutivas, que alcanzan su máxima expresividad en un déficit de rendimiento y aprendizaje escolar, junto con la aparición de crisis epilépticas de morfología inhabitual en el síndrome clásico, habiendo descrito Aicardi. Se revisan los criterios que configuran el fenotipo clínico y electroencefalográfico de éste síndrome epiléptico, cuya etiología idiopática ha permitido realizar investigaciones genéticas, iniciadas por Neubauer, con aparición posterior de diferentes hallazgos que permiten considerar la existencia de una heterogeneidad genética. Finalmente analiza el diagnóstico diferencial y se abre una discusión sobre las posibilidades terapéuticas, analizando tres aspectos: a) La decisión de iniciar o aplazar el tratamiento farmacológico profiláctico prolongado, b) la evidencia disponible respecto a la eficacia de los diferentes FAEs existentes, c) las diferentes recomendaciones sobre la duración del tratamiento farmacológico, en los casos en que se ha iniciado. Se concluye con la aseveración de estar ante un síndrome epiléptico usualmente de buena evolución, pero en el que las medidas terapéuticas por un lado y la evolución natural por otro, no están exentas de ofrecer problemas evolutivos de un significado neurológico más profundo y que deben ser bien conocidos para solucionarlos, minimizarlos e incluso evitarlos (AU)

[Transient cognitive disorder from sub clinical paroxysmal EEG activity]. / Afectación cognitiva transitoria por actividad electroencefalográca paroxística subclínica.

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.

Afectación cognitiva transitoria por actividad electroencefalográfica paroxística subclínica / Transient cognitive disorder from sub-clinical paroxysmal eeg activity

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)

[Infantile neuroaxonal dystrophy. A report of two new cases and a review of the literature published over the past ten years]. / Distrofia neuroaxonal infantil. Presentación de dos nuevos casos y revisión de los últimos diez años de la literatura.

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.

Distrofia neuroaxonal infantil. Presentación de dos nuevos casosy revisión de los últimos diez años de la literatura / Inantile neuroaxonal dystrophy. a report of two new cases and a review of the literature published over the past ten years

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)

Neurosurgical management of Walker-Warburg syndrome.

The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomal-recessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence for congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10,000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of pregnancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly.

Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1.

Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid collections. Following ventriculoperitoneal shunting, the patients showed only modest neurological improvement. Metabolic investigations performed later in the course of the disease disclosed increased levels of glutaric acid in the urine and decreased levels of serum carnitine, which were confirmatory of glutaric aciduria type 1. The association of macrocephaly, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.

Bilateral temporal arachnoid cysts in neurofibromatosis.

The occurrence of bilateral temporal arachnoid cysts has been considered as a rare event. Unilateral arachnoid pouches have been reported in a few instances associated with neurofibromatosis. The authors describe a 5-year-old girl with bilateral temporal arachnoid cysts who presented obvious stigmata of van Recklinghausen's disease. To the best of our knowledge, this is the first time that this association has been described in the literature.

[Walker-Warburg syndrome: experience at the Virgen de la Arrixaca Hospital]. / Síndrome de Walker-Warburg: experiencia del Hospital Virgen de la Arrixaca.

We report five patients with Walker-Warburg syndrome. These patients showed congenital hydrocephalus, encephalocele, agyria, ocular abnormalities (cataracts in 100%), and in four signs of muscular dystrophy. No cause is known for theses abnormalities. Death occurred before two years of age; however, one patient is currently alive with 6 months of age. This disease is recognized as a genetically determined condition with an autosomal recessive mode of inheritance. We comment on the similarities of this syndrome with other syndromes and the latest investigations concerning the pathogenesis. We believe that it is very important to suspect this illness in order that genetic counseling can be offered.

[Depressed skull fracture in the newborn infant. To operate or not?]. / Fractura con depresión craneal en el recién nacido. Operar o no operar?

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.

[Neonatal meningitis. Study of 26 cases and a review of its sequelae after 5 years]. / Meningitis neonatal. Estudio de 26 casos y revisión de sus secuelas a los cinco años.

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.

Congenital epidermoid cysts over the anterior fontanelle.

Epidermoid cysts over the anterior fontanelle were once regarded as rare and exclusive to blacks. The latest reports in the literature indicate a more widespread incidence. Only a few cases have been described in Europe. The authors report three cases of epidermoid cysts in this location occurring in Spaniards. Clinical, radiological, and surgical features are briefly discussed and pertinent literature is reviewed.