Absceso cerebral en paciente con Enfermedad de Rendu-Osler-Weber. Revisión del síndrome a partir de un caso ilustrativo / Brain abscess in patient with Rendu-Osler-Weber disease. Revision of the syndrome from an illustrative case

Introducción: La Enfermedad de Rendu-Osler-Weber o telangiectasia hemorrágica hereditaria (THH) está considerada como una causa rara de ictus en paciente joven. Asimismo la presencia de malformaciones arteriovenosas pulmonares (MAVP) se ha relacionado con la aparición de abscesos cerebrales. Método: Descripción del caso de una paciente de 52 años que, en el contexto de un ataque de migraña, presenta una pérdida de fuerza en hemicuerpo izquierdo acompañada de afectación de la sensibilidad tactoalgésica, progresivas. En la evolución observamos disminución del nivel de conciencia y signos de hipertensión intracraneal secundarios edema por la presencia de un absceso cerebral causado por un embolismo séptico paradójico debido a la existencia de MAVP. Resultados: A través de la realización de una exhaustiva historia clínica se llega al diagnóstico de THH confirmado mediante los estudios genéticos, describiéndose una deleción completa, mediante técnica de MLPA (Multiplex Ligation-dependent Probe Amplification), de uno de los alelos del gen de la Endoglina (ENG). Conclusión: La Enfermedad de Rendu-Osler-Weber, aunque infrecuente, debe considerarse en la etiología de los abscesos cerebrales en pacientes con historia de fistulas pulmonares. El seguimiento de los pacientes con THH es importante para minimizar el riesgo de aparición de procesos potencialmente graves. Aunque el diagnóstico sigue basándose en los criterios clínicos, los estudios moleculares pueden confirmar la presencia de mutaciones genéticas relacionadas con la enfermedad (AU)

Introduction: Rendu-Osler-Weber syndrome also known as hereditary hemorrhagic telangiectasia (THH) is considered as a rare cause of stroke in young people. Also pulmonary arteriovenous malformations (MAVP) are related to brain abscess. Method: We describe the case of a 52 years old female patient that, during a migraine attack, suffers a progressive onset of weakness in left body with numbness. In the evolution there appear signs of altered consciousness and intracranial hypertension, due to a cerebral abscess caused by a septic embolism as a manifestation of PAVM. Results: Through the clinical history we reached the diagnosis of THH confirm by genetic studies, our patient shows, by means of MLPA (Multiplex Ligation-dependent Probe Amplification), a complete delection of one of the alelo of Endogline (ENG) gene. Conclusions: Rendu-Osler-Weber disease, although its low prevalence, should be consider as a cause of brain abscesses in patients with history of pulmonary fistula. The follow of these patients with THH is very important to minimize the risk of fatal events. The diagnostic criteria are clinic but molecular studies can confirm the presence of genetic mutations related to this disease (AU)

[Prophylaxis of chronic daily headache with a simplified regimen of subcutaneous administration of botulinum toxin type A]. / Profilaxis de la cefalea crónica diaria con una pauta simplificada de administración subcutánea de toxina botulínica tipo A.

INTRODUCTION: Primary headaches are one of the most prevalent conditions in neurology. Botulinum toxin type A (TBA) has been used for years as a prophylactic measure for chronic daily headache (CDH) with varying infiltration regimens and outcomes. AIM: To demonstrate the speed, convenience and safety of a subcutaneous regimen of TBA as a prophylactic for CDH, and also to determine how effective it is as a preventive therapy. PATIENTS AND METHODS: A total of 843 patients were infiltrated subcutaneously with 100 U of TBA (Botox) using a 'fixed dose-fixed site' technique in six pericranial points in periods of at least three months. We evaluated the reduction in the mean frequency of crises and days with headaches and the intake of analgesics, as well as the percentage of patients with a reduction of over 50% in the mean frequency of headache crises. RESULTS: Subcutaneous infiltration of TBA brought about a reduction of 78.91+/-6.81% in the frequency of monthly crises (p<0.001) and a reduction of 62.38+/-12.8% in the number of days per month with headache after three months' infiltration. Reports from patients indicated that 92.8% of them had reduced the number of days with headache per month by at least 50%. Mean frequency and total intake of analgesics decreased from 21.48+/-2.47 to 1.96+/-1.27 (p<0.001) and from 126.01+/-24.7 to 6.65+/-2.27 doses, respectively. There were few side effects, none of which were severe. CONCLUSION: Simplified subcutaneous infiltration of TBA is very effective, convenient, fast and safe as a means of preventing CDH.

Profilaxis de la cefalea crónica diaria con una pauta simplificada de administración subcutánea de toxina botulínica tipo A / Prophylaxis of chronicdaily headache with a simplified regimen of subcutaneous administration of botulinum toxin type A

Las cefaleas primarias constituyen una de las afecciones más prevalentes en neurología. La toxinabotulínica tipo A (TBA) se utiliza desde hace años en la profilaxis de la cefalea crónica diaria (CCD) con pautas de infiltración y resultados variables. Objetivo. Determinar la eficacia preventiva y demostrar la rapidez, comodidad y tolerabilidad de una pauta subcutánea de TBA en la profilaxis de la CCD. Pacientes y métodos. 843 pacientes fueron infiltrados subcutáneamente con una técnica ‘dosis fija-sitio fijo’ de 100 U de TBA (Botox) en seis puntos pericraneales en períodos de al menos tres meses. Se valoró la reducción de la frecuencia media de crisis y días con cefalea, y del consumo de analgésicos y porcentaje de pacientes con reducción de más del 50% de la frecuencia media de crisis de cefalea. Resultados. La infiltración subcutáneade TBA produjo una reducción del 78,91 ± 6,81% en la frecuencia de crisis mensuales (p < 0,001) y una reducción del 62,38 ± 12,8% en los días mensuales con cefalea a los tres meses de la infiltración. El 92,8% de los pacientes refirió una reducción de al menos un 50% de los días con cefalea mensuales. La frecuencia media y el total de consumo de analgésicos se redujo de 21,48 ± 2,47 a 1,96 ± 1,27 (p < 0,001), y de 126,01 ± 24,7 a 6,65 ± 2,27 dosis, respectivamente. Hubo pocos efectosadversos, ninguno grave. Conclusión. La infiltración simplificada subcutánea de TBA es muy eficaz, cómoda, rápida y segura en la prevención de la CCD

Primary headaches are one of the most prevalent conditions in neurology. Botulinum toxin type A(TBA) has been used for years as a prophylactic measure for chronic daily headache (CDH) with varying infiltration regimens and outcomes. Aim. To demonstrate the speed, convenience and safety of a subcutaneous regimen of TBA as a prophylactic for CDH, and also to determine how effective it is as a preventive therapy. Patients and methods. A total of 843 patients wereinfiltrated subcutaneously with 100 U of TBA (Botox) using a ‘fixed dose-fixed site’ technique in six pericranial points in periods of at least three months. We evaluated the reduction in the mean frequency of crises and days with headaches and theintake of analgesics, as well as the percentage of patients with a reduction of over 50% in the mean frequency of headache crises. Results. Subcutaneous infiltration of TBA brought about a reduction of 78.91 ± 6.81% in the frequency of monthly crises (p < 0.001) and a reduction of 62.38 ± 12.8% in the number of days per month with headache after three months’ infiltration. Reports from patients indicated that 92.8% of them had reduced the number of days with headache per month byat least 50%. Mean frequency and total intake of analgesics decreased from 21.48 ± 2.47 to 1.96 ± 1.27 (p < 0.001) and from 126.01 ± 24.7 to 6.65 ± 2.27 doses, respectively. There were few side effects, none of which were severe. Conclusion. Simplified subcutaneous infiltration of TBA is very effective, convenient, fast and safe as a means of preventing CDH

[Syndrome of rostral occlusion of the basilar artery]. / Síndrome de oclusión rostral de la arteria basilar.

Upper occlusion of the basilar artery ("top of the basilar" syndrome) causes ischemics lesions in brainstem, thalamus and occipital and temporal lobes, producing visual, oculomotor and behavioral disorders, with slight motor affectation concomitant. We expose a case with a typical clinical setting and infarctions in thalamus and both occipital lobes with an unusual symmetric distribution.

[Heterotopic gray matter: an infrequent cause of epilepsy]. / Heterotopias de sustancia gris: una causa infrecuente de epilepsia.

Heterotopia of gray matter is a developmental malformation in which ectopic cortex is found in the white matter of the brain. A case of a 27-year-old woman with generalized convulsions is reported, including the results of cerebral computed tomography and magnetic resonance imaging. In this patient, nodular masses of gray matter were present in the periventricular region. We emphasize that magnetic resonance imaging is the current method of choice for diagnosing heterotopic gray matter.

[Unusual neurologic manifestation of Graves-Basedow disease]. / Manifestación neurológica inusual en la enfermedad de Graves-Basedow.

A 74 year old, male patient had an acute, painful bilateral exophtalmos, ptosis, ophtalmopathy and vision impairment. The CT-scan showed a thickness of the extrinsic ocular muscles which oriented the diagnosis of Graves-Basedow disease, later confirmed by the laboratory test. We highlight the rarity of the acute onset contrary to the slowly progressive ophtalmopathy frequently seen in this type of thyrotoxicosis, as well as the importance of the orbital CT-scan for an early diagnosis. We review the pathogenic theories of the process with its important immunologic back-ground, taking part the humoral and the cellular immunity associated with the HLA-B35 haplotype commenting on the good response to high dosage of steroids, later combined with bromocriptine.

Present criteria for the diagnosis of in vivo of olivopontocerebellar atrophy.

We present 6 cases of olivopontocerebellar atrophy (OPCA) of Dèjérine-Thomas type. The diagnosis was based on an appropriate clinical picture, anomalous brainstem auditory evoked potentials (BAEP) and computerized tomography (CT) and/or magnetic nuclear resonance (MNR) imaging which demonstrated atrophy of the cerebellum and the pons. We believe that these methods will provide greater uniformity in the diagnosis of such an heterogeneous entity as OPCA.