[Chronic relapsing axonal neuropathy. A case report]. / Polineuropatía crónica axonal recidivante en brotes. Caso clínico.

INTRODUCTION: Polyneuropathies (PNP) result from damage to a number of nerves. They are classified according to the anatomical-functional, histological, aetiological and genetic characteristics. Here we report on the prolonged follow-up carried out on an adult male who had a chronic recurring axonal-type PNP. CASE REPORT: We describe the case of a 65-year-old male who presented episodes of neurological deficit over a period of 10 years that were interspersed with prolonged, stable periods in which he was free of new symptoms. The patient's functional limitations became greater with each successive relapse and the situation is now one of extreme disability. The characteristics of the clinical picture pointed towards a diffuse peripheral nerve disorder, and the neurophysiological studies carried out revealed polyneuropathic, sensory and motor injury mediated by an axonal mechanism with no associated demyelination. A comprehensive analytical, imaging and functional study was conducted, but did not reveal any specific causes. The particular clinical process, the exclusion of other pathologies and the electrophysiological findings allowed us to reach a diagnosis of recurring or episodic chronic primary axonal PNP. CONCLUSIONS: This description can be added to the few cases reported in the literature. As we see it, this is an unusual, although probably underdiagnosed, disease and it must be taken into account in the differential diagnosis of chronic recurring PNP because of the diagnostic implications and--with respect to its usually poor response to therapy--due to the prognoses.

Polineuropatía crónica axonal recidivante en brotes. Caso clínico / Chronic relapsing axonal neuropathy. A case report

Introducción. Las polineuropatías (PNP) son el resultado del daño de múltiples nervios. Se clasifican en relación con las características anatomofuncionales, histológicas, etiológicas y genéticas. Describimos el seguimiento prolongado de un hombre adulto afectado por una PNP de tipo axonal crónico con un curso recidivante. Caso clínico. Paciente de 65 años que presentó, durante 10 años, déficit neurológicos episódicos en los que se intercalaron períodos estables y prolongados libres de nuevos síntomas. Con las sucesivas recidivas el enfermo acumuló una importante limitación funcional que le ha llevado en la actualidad a una situación muy invalidante. Las características del cuadro clínico orientaron hacia una afectación difusa de nervio periférico, y los estudios neurofisiológicos demostraron una lesión polineuropática, sensitiva y motora mediada por un mecanismo axonal sin desmielinización asociada. Se realizó un amplio estudio analítico, de imagen y funcional, sin que se evidenciaran etiologías específicas. El proceso clínico particular, la exclusión de otras patologías y los hallazgos electrofisiológicos, permitieron realizar el diagnóstico de PNP crónica axonal primaria recidivante o en brotes. Conclusiones. Este caso es otra descripción de los pocos documentados en la bibliografía. En nuestra opinión constituye una enfermedad inusual, aunque con probabilidad infradiagnosticada, y debe considerarse en el diagnóstico diferencial de PNP crónicas recidivantes por las implicaciones diagnósticas y, en relación con su habitual mala respuesta terapéutica, por las pronósticas

Introduction. Polyneuropathies (PNP) result from damage to a number of nerves. They are classified according to the anatomical-functional, histological, aetiological and genetic characteristics. Here we report on the prolonged follow-up carried out on an adult male who had a chronic recurring axonal-type PNP. Case report. We describe the case of a 65-year-old male who presented episodes of neurological deficit over a period of 10 years that were interspersed with prolonged, stable periods in which he was free of new symptoms. The patient’s functional limitations became greater with each successive relapse and the situation is now one of extreme disability. The characteristics of the clinical picture pointed towards a diffuse peripheral nerve disorder, and the neurophysiological studies carried out revealed polyneuropathic, sensory and motor injury mediated by an axonal mechanism with no associated demyelination. A comprehensive analytical, imaging and functional study was conducted, but did not reveal any specific causes. The particular clinical process, the exclusion of other pathologies and the electrophysiological findings allowed us to reach a diagnosis of recurring or episodic chronic primary axonal PNP. Conclusions. This description can be added to the few cases reported in the literature. As we see it, this is an unusual, although probably underdiagnosed, disease and it must be taken into account in the differential diagnosis of chronic recurring PNP because of the diagnostic implications and –with respect to its usually poor response to therapy– due to the prognoses

Tibial muscular dystrophy with late adult onset in a Spanish family.

PURPOSE: We report autosomal dominant distal muscular dystrophy in 5 members of a Spanish family. INTRODUCTION: This unusual muscular disorder has late adult onset and predominantly it affects the anterior compartment of the legs. This myopathy presented clinical and electromyographical characteristics, but unspecific histological findings. Early there have appeared genetical studies, the most frequently used is chromosome linkage, but it is not an absolute criterion for diagnosis, and it is not available in most hospitals. PATIENTS DESCRIPTIONS: In our cases walking difficulties appeared between the fourth and fifth decades, characterized by progressive and varied weakness with amyotrophy in the tibial anterior compartment. The electromyography confirmed the presence of a severe non-inflammatory myopathy, chronic and symmetric in the pretibial muscles and of less intensity in the calf muscles. The levels of creatine phosphokinase were normal and muscle biopsy identified a chronic, unspecific lesion with important fibrosis. CONCLUSIONS: The findings, although with some phenotypical differences, were those commonly found in Markesbery-Griggs disease, tibial muscular dystrophy or late onset type 2 distal myopathy. We report a family affected by this muscular disorder, we describe the differential diagnosis and we discuss the review of the available literature.

Atrapamiento del nervio peroneal cutáneo lateral de la pierna / Lateral peroneal cutaneous nerve entrapment in the leg

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[Pharmacological targets in neurodegenerative diseases]. / Dianas farmacológicas en las enfermedades neurodegenerativas.

The frequency, morbidity and complexity of neurodegenerative diseases (NDD) make them the greatest therapeutic challenge to Medicine today. These diseases are characterized by a decreased number of cells in certain neuronal populations, which is clinically reflected in the appearance of specific symptoms. In this study, we will centre our attention on the two fundamental lines of action that, from a pharmacological point of view, are available for the treatment of NDD. The first is aetiopathogenic, and is aimed at stopping cell death and promoting the recovery of cell populations. The second line is physiopathological and seeks to prevent, delay or palliate the appearance of the symptoms indicating an alteration in the levels of neurotransmitters, and its chief objective is to maintain them. Pharmacology has already provided neurologists with a wide range of tried and tested drugs, yet the results obtained in research laboratories in the last few years seem to indicate that the number of therapeutic possibilities are very likely to rise sharply in the future. Progress made in genomics and the better understanding of cellular biochemical cycles allow us to expect that this century will finally be that of the Neurosciences, and that Neurology, without losing its cognitive essence, will start to be considered to be a speciality that is as therapeutic as it is diagnostic.

Dianas farmacológicas en las enfermedades neurodegenerativas / Pharmacological targets in neurodegenerative diseases

Las enfermedades neurodegenerativas (END), por su frecuencia, morbilidad y complejidad, suponen actualmente el mayor reto terapéutico de la medicina. Estas enfermedades se caracterizan por una disminución en el número de células en determinadas poblaciones neuronales, lo que se refleja clínicamente por la aparición de sintomatologías específicas. En esta revisión nos centraremos en las dos líneas de actuación fundamentales que desde el punto de vista de la farmacología hay abiertas en el tratamiento de las END: la primera, etiopatogénica, con el objetivo de detener la muerte celular y fomentar la recuperación de las poblaciones celulares; la segunda línea, fisiopatológica, busca prevenir, retardar o paliar la aparición de la sintomatología propia de la alteración en los niveles de neurotransmisores, y que presenta como objetivo principal el mantenimiento de los mismos. La farmacología ha dotado ya a los neurólogos de un amplio arsenal de fármacos de probada eficacia; sin embargo, los resultados obtenidos en los laboratorios de investigación en los últimos años hacen muy probable que las posibilidades terapéuticas aumenten considerablemente en el futuro. Los avances de la genómica y la mejor comprensión de los ciclos bioquímicos celulares hacen esperar que este siglo sea, por fin, el de las neurociencias, y que la neurología, sin perder su esencia cognitiva, empiece a considerarse una especialidad tan terapéutica como diagnóstica (AU)