Fistula espontánea de LCR como manifestación de la hipertensión intracraneal idiopática / Spontaneous CSF fistula as manifestation of idiopathic intracranial hypertension

Introducción: La fistula espontanea de líquido cefalorraquídeo (LCR) de origen desconocido, es una afección poco frecuente cuya etiología se relaciona cada vez más con la hipertensión intracraneal idiopática (HII). Este estudio trata de concienciar que no deben considerase como 2 procesos distintos, sino que las fistulas pueden ser una forma de inicio, requiriendo un estudio y tratamiento posterior. Se describen las técnicas de reparación, así como el estudio de la HII. Resultados: Se trataron 8 pacientes, 5 mujeres y 3 varones, con edades comprendidas entre 46 y 72 años, con diagnóstico de fistula espontánea de LCR, 4 nasales y 4 óticas a los que se le sometió a tratamiento quirúrgico. Tras la reparación se realizó un estudio diagnóstico para la HII mediante RMN y angio-RM, presentando en todos los casos una estenosis de seno venoso transverso. Los valores de presión intracraneal obtenidos mediante punción lumbar mostraron valores de 20mmHg o superiores. Todos los pacientes fueron diagnosticados de HII. El seguimiento a un año no reveló ninguna recidiva de las fistulas, manteniendo un control de la HII. Conclusión: A pesar de su escasa frecuencia tanto de las fistulas craneales de LCR como de la HII, debe considerarse una asociación de ambas afecciones continuando el estudio y vigilancia de estos pacientes tras el cierre de la fístula.(AU)

Introduction: Spontaneous cerebrospinal fluid (CSF) fistula, of unknown origin, is a rare condition whose etiology is increasingly related to idiopathic intracranial hypertension (IIH). This study tries to raise awareness that they should not be considered as two different processes, but that fistulas can be a form of debut, requiring a study and subsequent treatment. Repair techniques are described, as well as the study of IIH. Results: We treated eight patients, five women and three men, aged between 46 and 72 years, with a diagnosis of spontaneous CSF fistula, four nasal and four otics who underwent surgical treatment. After repair, a diagnostic study was performed for IIH by MRI and angio-MRI, presenting in all cases a transverse venous sinus stenosis. The intracranial pressure values obtained by lumbar puncture showed values of 20mmHg or higher. All patients were diagnosed with IIH. The one-year follow-up did not reveal any recurrence of the fistulas, maintaining a control of the IIH. Conclusion: Despite their low frequency of both cranial CSF fistula and IIH, an association of both conditions should be considered by continuing the study and surveillance of these patients after fistula closure.(AU)

Spontaneous CSF fistula as a manifestation of idiopathic intracranial hypertension.

INTRODUCTION: Spontaneous cerebrospinal fluid (CSF) fistula, of unknown origin, is a rare condition whose aetiology is increasingly related to idiopathic intracranial hypertension (IIH). This study tries to raise awareness that they should not be considered as two different processes, but that fistulas can be a form of debut, requiring a study and subsequent treatment. Repair techniques are described, as well as the study of HII. RESULTS: We treated 8 patients, 5 women and three men, aged between 46 and 72 years, with a diagnosis of spontaneous CSF fistula, four nasal and four otics who underwent surgical treatment. After repair, a diagnostic study was performed for IIH by MRI and Angio-MRI, presenting in all cases a transverse venous sinus stenosis. The intracranial pressure values obtained by lumbar puncture showed values of 20mm Hg or higher. All patients were diagnosed with HII. The one-year follow-up did not reveal any recurrence of the fistulas, maintaining a control of the HII. CONCLUSION: Despite their low frequency of both cranial CSF fistula and IIH, an association of both conditions should be considered by continuing the study and surveillance of these patients after fistula closure.

Association between RS3763040 polymorphism of the AQP4 and idiopathic intracranial hypertension in a Spanish Caucasian population.

Background: Idiopathic intracranial hypertension (IIH) is a condition of increased intracranial pressure of unknown aetiology. Principal symptoms are headache, visual disturbances, and obesity, together with elevated intracranial pressure. Unspecified MRI, despite normal ventricle size, suggests alterations in the water flux cellular mediated by the brain water channel aquaporin-4 (AQP4). The association among IIH, cerebral spinal fluid malfunction, reabsorption, and functional or regulatory modifications of AQP4 is a hypothesis not confirmed. Methods: Blood samples were collected from 72 Spanish Caucasian patients with IIH. A genetic association study was performed with bi-allelic SNPs rs1049305 and rs10244884 in AQ1 and rs2075575, rs3763043, and rs3763040 in AQ4. Genetic data were compared with 94 healthy Caucasian control. Statistics studies were assessed by Pearson's χ 2 tests for 2 × 2 (alleles) or 3 × 2 (genotypes) contingency tables. A P value < 0.05 was considered to be statistically significant. Results: Statistically significant differences were found when comparing the results of the rs3763040 polymorphism of the AQ4 locus of IIH patients with controls, in genotypic frequencies (P = 0.0442) and allele frequencies (P = 0.0171). Furthermore, a statistically significant difference (P = 0.0207) was found in individuals carrying and not carrying the minor allele (GG + GA individuals vs GG homozygotes). No statistically significant differences were found when comparing allele and genotypic frequencies for SNPs rs1049305 and rs10244884 of AQ1 and rs2075575 and rs3763043 of AQ4. Conclusions: The association of AQP4 and specifically of its polymorphic variant rs3763040 with IIH should be validated in other ethnic groups in order to assess more precisely the role of AQP4 in the etiopathogenesis of IIH.

Las Aquaporinas Y El Sistema Nervioso Central / Aquaporins And System Nervous Central

RESUMEN El descubrimiento de las acuaporinas, que constituyen una familia de proteínas integrales de membrana, ha supuesto un cambio con respecto a la comprensión del transporte de agua en las membranas biológicas. La más importante es la aquaporina 4 (AQP4) en la que nos centraremos a continuación, aunque existen otras dos acuaporinas la 1y la 9. Estas acuaporinas tienen una gran importancia en la fisiología del control del volumen celular y los mecanismos de control osmótico de las células. También en el control del flujo de glicerol y otros solutos. Además, las alteraciones en su funcionamiento se han relacionado con distintas enfermedades del sistema nervioso central como la neuromielitis óptica, el edema cerebral, la hipertensión intracraneal idiopática o la hidrocefalia crónica del adulto entre otras. Se realiza una revisión sobre este tema.

ABSTRACT The discovery of aquaporins, which constitute a family of integral membrane proteins, has meant a change with respect to the understanding of water transport in biological membranes. The most important is aquaporin 4 (AQP4) which we will focus on below, although there are two other aquaporins, 1 and 9. These aquaporins are of great importance in the physiology of cell volume control and osmotic control mechanisms of the cells. Also in the control of the flow of glycerol and other solutes. In addition, alterations in its functioning have been related to various diseases of the central nervous system such as neuromyelitis optics, cerebral edema, idiopathic intracranial hypertension or chronic hydrocephalus of the adult among others. A review is made on this topic.

Linfadenopatías por picaduras de garrapatas: a propósito de dos casos / Lymphadenopathy by tick bite: concerning two cases

Muchos niños manifiestan linfadenopatías en algún momento de su infancia, debidas sobre todo a enfermedades infecciosas. Es precisa una buena historia clínica, exploración física y pruebas complementarias que permitan su diagnóstico diferencial. Se describen los casos de dos niños que presentaban un cuadro clínico similar de linfadenopatías regionales, sin fiebre ni exantemas. Ambos tenían como antecedente la picadura de garrapata en el cuero cabelludo. El cuadro clínico y la serología positiva a rickettsias nos llevaron al diagnóstico de linfoadenopatía transmitida por garrapatas, TIBOLA, DEBONEL o SENLAT. El diagnóstico serológico en nuestros casos se encuentra limitado por la existencia de reacciones cruzadas con las distintas especies de rickettsias, en concreto con R. conorii (que es la habitualmente detectada en nuestro medio) e incluso con otras bacterias. La evolución de ambos casos fue favorable con tratamiento de azitromicina durante cinco días. Pese a la dificultad que supone la interpretación de los resultados serológicos, el diagnóstico de esta rickettsiosis se puede hacer a la luz de los datos clínicos y epidemiológicos. Debe plantearse la utilización simultánea de otras técnicas para aumentar la sensibilidad diagnóstica como pueden ser en la actualidad las técnicas de reacción en cadena de la polimerasa en biopsia cutánea que nos darán el diagnóstico etiológico de la infección

Many children manifest lymphadenopathy at some point in their childhood, mainly due to infectious diseases. A correct clinical history, physical examination and complementary tests are required to allow differential diagnosis. We describe the cases of two children who presented a similar clinical presentation of regional lymphadenopathies without fever or rash. Both had as antecedent the tick bite on the scalp. The clinical presentation and the positive serology to Rickettsias led us to the diagnosis of lymphadenopathy transmitted by ticks, TIBOLA, DEBONEL or SENLAT. The serological diagnosis in our cases is limited by the existence of cross reactions with the different species of Rickettsias in particular with R. conorii (which is the one usually detected in our environment) and even with other bacteria. The evolution of both cases was favorable with treatment of azithromycin for five days. Despite the difficulty involved in the interpretation of serological results, the diagnosis of this rickettsiosis can be made in the light of clinical and epidemiological data. It should be considered the simultaneous use of other techniques to increase diagnostic sensitivity, such as PCR techniques in skin biopsy that will give us the etiological diagnosis of the infection