Ulnar nerve thickness at the elbow on longitudinal ultrasound view in control subjects.

INTRODUCTION: Ulnar mononeuropathy at the elbow is the second most frequent neuropathy in humans. Diagnosis is based on clinical and electrophysiological criteria and, more recently, also on ultrasound. Cross-sectional ultrasound is currently the most valued, although longitudinal ultrasound allows assessment of the entire affected trajectory of the nerve in a single view, but always in a straight line with no changes in direction, as in the extended elbow. The main aim of this work is to propose normative values ​​for longitudinal ultrasound of the ulnar nerve at the elbow. METHODS: The neurological exploration of upper extremity, and electrophysiological and ultrasound parameters at the elbow of ulnar nerve were evaluated in 76 limbs from 38 asymptomatic subjects. RESULTS: The diameters of the nerve as well as the distal and proximal areas were larger at the proximal region of the ulnar groove, and even more so in older individuals. In most of these elderly subjects, we found a small, non-significant slowdown in motor conduction velocity at the elbow with respect to the forearm (less than 5 m/s). CONCLUSIONS: We observed a good correlation between the longitudinal and cross-sectional ultrasounds of the ulnar nerve at the elbow. Longitudinal ultrasound proved to be sensitive, reliable, simple and rapid, but its greatest contribution was allowing the visualization of the entire nerve trajectory in an integrated way, providing an image with good definition of the outline, proportions and intraneural characteristics of the nerve.

Monitorización neurofisiológica intraoperatoria del nervio frénico: utilidad y descripción de la técnica / Intraoperative neurophysiological monitoring of the phrenic nerve: utility and descriptions of the technique

En procedimientos quirúrgicos de las regiones supraclaviculares y laterales cervicales, así como en cirugías cardíacas y mediastínicas, la función diafragmática puede comprometerse desde la base del riesgo de lesión del nervio frénico y/o la raíz C4. Son escasas las publicaciones que tratan la estimulación intraoperatoria de estas estructuras nerviosas para evaluar su funcionalidad y, en nuestro conocimiento, hasta ahora no se ha hipotetizado acerca de si es posible reducir las tasas de lesión situadas en hasta el 26% en algunos estudios de cirugía cardíaca. Describimos la técnica empleada para la monitorización neurofisiológica del nervio frénico. Asimismo, se discute su utilidad y ventajas respecto a otras técnicas. Concluimos que con la incorporación creciente de la monitorización neurofisiológica intraoperatoria en los últimos años, es posible su aplicación al nervio frénico en los procedimientos en los que se considere que existe riesgo de lesión del mismo y, con ella, puede ser factible la reducción de las tasas de lesión iatrógena

In surgical procedures of the supraclavicular and lateral cervical regions, as well as in cardiac and mediastinal surgeries, diaphragm function can be compromised by the risk of injury to the phrenic nerve and/or the C4 root. There are few publications that treat the intraoperative stimulation of these nerve structures to evaluate their functionality and, to our knowledge, until now it has not been hypothesized about whether it is possible to reduce the injury rates, which reach 26% in some cardiac surgery studies. We describe the technique used for the neurophysiological monitoring of the phrenic nerve. Also, its usefulness and advantages over other techniques are discussed. We conclude that, with the increasing incorporation in recent years of intraoperative neurophysiological monitoring, its application to the phrenic nerve is possible in procedures with a risk of injury and, thus, the reduction of iatrogenic injury rates may be feasible

Intraoperative neurophysiological monitoring of the phrenic nerve: utility and descriptions of the technique. / Monitorización neurofisiológica intraoperatoria del nervio frénico: utilidad y descripción de la técnica.

In surgical procedures of the supraclavicular and lateral cervical regions, as well as in cardiac and mediastinal surgeries, diaphragm function can be compromised by the risk of injury to the phrenic nerve and/or the C4 root. There are few publications that treat the intraoperative stimulation of these nerve structures to evaluate their functionality and, to our knowledge, until now it has not been hypothesized about whether it is possible to reduce the injury rates, which reach 26% in some cardiac surgery studies. We describe the technique used for the neurophysiological monitoring of the phrenic nerve. Also, its usefulness and advantages over other techniques are discussed. We conclude that, with the increasing incorporation in recent years of intraoperative neurophysiological monitoring, its application to the phrenic nerve is possible in procedures with a risk of injury and, thus, the reduction of iatrogenic injury rates may be feasible.

Exceptional response to brivaracetam in a patient with refractory idiopathic generalized epilepsy and absence seizures.

Brivaracetam is currently indicated as adjunctive therapy for patients with focal-onset seizures with or without secondary generalization. However, it has been suggested that it could provide broad-spectrum efficacy given its similarity to levetiracetam and based on the results from preclinical studies and others of patients with generalized epilepsy. We present the case of a woman with refractory idiopathic generalized epilepsy and absence seizures with dramatic response to brivaracetam. Our report supports a consideration of treatment with this new antiepileptic drug on a case-by-case basis in patients with refractory generalized epilepsy, while we await further studies on this topic.

Evaluación del nervio vago en un paciente con neuropatía hereditaria sensitivomotora tipo 1° / Evaluation of the vagal nerve in a patient with hereditary motor sensory neuropathy type 1°

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Lepra neural pura. Aspectos diagnósticos en un caso clínico / Pure neural leprosy. Diagnostic aspects of a clinical case

Introducción. La lepra es una enfermedad infecciosa causada por la bacteria Mycobacterium leprae. Presenta especial avidez por la piel y los troncos nerviosos, y, de hecho, ambos se afectan en la mayor parte de los infectados. Se trasmite por exposición con enfermos y en ocasiones por reactivación. Una posibilidad inhabitual es la lepra neural pura, caracterizada por neuropatía, pero sin lesiones en la piel. Se describe un paciente con lepra neural pura y se revisan los aspectos diagnósticos. Caso clínico. Varón de 40 años, inmigrante, diagnosticado y tratado de lepra 20 años antes. Acudió por parestesias y disestesias dolorosas en las manos y las piernas sin lesiones en la piel. Se demostró mononeuritis múltiple aguda con principal afectación de cubitales. La enfermedad, tipificada como tuberculoide paucibacilar, se trató y en pocas semanas la mejoría fue evidente. Conclusiones. En este caso de lepra neural pura por reactivación, el diagnóstico temprano permitió un rápido tratamiento. Es recomendable la evaluación de la neuropatía integrada con criterios clínicos, electrofisiológicos y ecográficos. De este modo se consigue una alta sensibilidad y especialmente una precocidad en el diagnóstico y la instauración del tratamiento, y por consecuencia una mejor recuperación funcional (AU)

Introduction. Leprosy is an infectious disease caused by the bacteria Mycobacterium leprae. It is particularly prone to affect the skin and the nerve trunks and, in fact, both are compromised in most infected patients. It is transmitted by exposure to those with the disease and sometimes by reactivation. One uncommon possibility is pure neural leprosy, which is characterised by neuropathy, but without skin lesions. We report the case of a patient with pure neural leprosy and review the diagnostic aspects. Case report. A 40-year-old male, an immigrant who was diagnosed and treated for leprosy 20 earlier. The patient visited due to painful paraesthesias and dysesthesias in the hands and legs without the presence of any skin lesions. Acute multiple mononeuritis with mainly ulnar involvement was observed. The disease, typified as paucibacillary/tuberculoid, was treated and in a few weeks there was a clear improvement. Conclusions. In this case of pure neural leprosy due to reactivation, early diagnosis allowed timely treatment to be established. Evaluation of neuropathy together with clinical, electrophysiological and ultrasound criteria is recommended. By so doing, a high degree of sensitivity is achieved as well as allowing early diagnosis and treatment, and therefore a better functional recovery (AU)

Aportación de la electroencefalografía en la detección temprana de leucinosis neonatal / Value of electroencephalography in the early detection of neonatal leucinosis

Introducción. La leucinosis es una metabolopatía neonatal grave. Es consecuencia del déficit enzimático determinado genéticamente del complejo descarboxilasa-dihidrolipoil transacilasa y dihidrolipoil deshidrogenasa, y del acúmulo consecuente de los metabolitos precursores, aminoácidos ramificados de cadena larga y sus alfa-cetoácidos. Son potentes neurotóxicos, responsables del rápido establecimiento de edema y desmielinización cerebral difusa. La demora en el diagnóstico suele provocar graves secuelas psicomotoras o incluso la muerte. Caso clínico. Se presenta una paciente neonata con encefalopatía neonatal grave, crisis epilépticas y un electroencefalograma (EEG) con unas características especiales que orientó el diagnóstico hacia una posible leucinosis. El diagnóstico temprano permitió instaurar rápidamente el tratamiento específico y conseguir una evolución favorable de la paciente. Conclusiones. El EEG en pacientes con sospecha de encefalopatía neonatal ofrece información funcional de alta rentabilidad con un bajo coste, en especial por promover diagnósticos y tratamientos tempranos. El EEG en la leucinosis presenta signos peculiares, reconocibles en períodos tempranos en la mayor parte de los afectados, como ocurrió en el caso descrito. Parece recomendable integrar el EEG en el cribado de encefalopatías neonatales por ser una técnica diagnóstica valiosa, inocua y, por lo general, accesible y especialmente de ayuda en metabolopatías tratables, como la leucinosis (AU)

Introduction. Leucinosis is a severe neonatal metabolic disease. It is the consequence of the genetically determined enzyme deficiency of the complex formed by decarboxylase-dihydrolipoyl transacylase and dihydrolipoyl dehydrogenase, and of the subsequent accumulation of precursor metabolites, long branched-chain amino acids and their alpha ketoacids. They are powerful neurotoxins, responsible for the swift onset of oedema and diffuse cerebral demyelination. Delays in its diagnosis usually result in severe psychomotor sequelae or even death. Case report. We report the case of a newborn female patient with severe neonatal encephalopathy, epileptic seizures and an electroencephalogram (EEG) with certain special characteristics that guided the diagnosis towards that of possible leucinosis. Early diagnosis makes it possible to establish specific treatment and achieve a favourable patient outcome. Conclusions. An EEG in patients with suspected neonatal encephalopathy offers highly cost-effective functional information at a low cost, especially because it promotes early diagnoses and treatments. In cases of leucinosis, EEG presents peculiar signs that are easily recognisable in early periods in most patients, as occurred in the case reported here. We believe EEG should be included in screening for neonatal encephalopathies because it is a valuable, innocuous and generally accessible diagnostic technique. It is especially helpful in treatable metabolic diseases, such as leucinosis (AU)

Tonic Seizure Status Epilepticus Triggered by Valproate in a Child with Doose Syndrome.

Antiepileptic drugs may occasionally increase seizure frequency or eliciting de novo seizure occurrence; the underlying mechanism of these effects is not known. The potential adverse effects of valproic acid in myoclonic astatic epilepsy have been noted by experienced clinicians in various different regions of the world, but this important observation has not been sufficiently reported. We present the case of tonic status epilepticus in an 8-year-old boy with Doose syndrome related to valproic acid. Valproic acid, such as others antiepileptic drugs, is liable to produce paradoxical effects such as the atypical seizures we report. We emphasize the importance for the management of acute seizures in an intensive care unit setting and increase awareness of the acute toxic effects of antiepileptic drugs.

Síndrome de Guillain-Barré. Hallazgos ecográficos tempranos / Guillain-Barré syndrome. Early ultrasound findings

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Utilidad de los ultrasonidos en la detección de fasciculaciones linguales / The value of ultrasounds in the detection of lingual fasciculations

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Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

Spinal muscular atrophy and progressive myoclonic epilepsy (SMAPME, OMIM#159950) is a rare autosomal recessive disorder characterized by the combination of progressive myoclonic epilepsy and muscular weakness due to lower motor neuron disease. Mutations in ASAH1, previously associated only to Farber disease, have been recently described in seven patients with SMAPME. A homozygous c.125C>T mutation was initially found in six patients with a clinical homogeneous phenotype. A heterozygous compound mutation found in an additional patient has broadened the clinical and genetic spectrum of clinical SMAPME. We report a new case of a 13-year-old girl with SMAPME with the homozygous ASAH1 c.125C>T mutation, unique in that it is due to paternal uniparental disomy. She experienced muscle weakness from the age of three due to lower motor neuron involvement that lead to severe handicap and onset in late childhood of a progressive myoclonic epilepsy. This clinical picture fully overlaps with that of previously reported patients with this mutation and supports our view that the clinical phenotype associated with the homozygous c.125C>T mutation constitutes a clinically homogenous and recognizable disease.

Correlación morfológica funcional en un paciente con neuroma de Morton. Ultrasonografía y electrofisiología / Functional morphological correlation in a patient with Morton's neuroma. Ultrasonography and electrophysiology

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Síndrome del túnel carpiano. Aportación de la ultrasonografía / Carpal tunnel syndrome. The contribution of ultrasonography

El síndrome del túnel carpiano es la mononeuropatía más frecuente. La incidencia es enorme, y la consecuente problemática sociosanitaria, preocupante. Se impuso en esta situación la necesidad de desarrollar un punto clave en el manejo de la enfermedad, encontrar procedimientos diagnósticos ágiles, sensibles, específicos y rentables. Contamos hoy con herramientas de contrastada utilidad, en especial la electrofisiología, y desde no hace mucho también la ultrasonografía. Ambas permiten confirmar y caracterizar neuropatías por atrapamiento, y, de hecho, son numerosas las contribuciones bibliográficas que podemos encontrar, en los últimos años, con profusión sobre la ecografía. No es de extrañar que muchos autores reputados hayan asumido con éxito esta técnica. Hacemos una revisión de aspectos fisiopatológicos y diagnósticos del síndrome del túnel carpiano, con mayor dedicación a la aportación de la evaluación morfológica del nervio atrapado mediante ultrasonografía. Este método ha demostrado ventajas significativas no sólo por ser accesible, barato, rápido e indoloro, sino, y sobre todo, por su alta capacidad para detectar alteraciones neurales y perineurales. La revisión crítica de la bibliografía apoya esta tesis y hace recomendable su incorporación en la evaluación rutinaria (AU)

Carpal tunnel syndrome is the most frequent mononeuropathy. Its incidence is huge and the ensuing community health problems are therefore the cause of much concern. Such a situation has made it necessary to develop a key point in the management of the illness, that is, to find flexible, sensitive, specific and cost-effective diagnostic procedures. Today tools of proven worth are now available, especially electrophysiology, and quite recently we also have ultrasonography. Both of these techniques allow us to confirm and characterise neuropathies due to entrapment and indeed a large number of papers dealing with ultrasound imaging have been published in the literature over the last few years. It therefore comes as no surprise that many renowned authors have acknowledged the usefulness of this technique. Here, we review the pathophysiological and diagnostic aspects of carpal tunnel syndrome, with greater emphasis on how ultrasonography has contributed to the morphological evaluation of the entrapped nerve. This method has proved itself to have significant advantages not only due to its being readily available, inexpensive, fast and painless, but also, and above all, because of its high capacity to detect neural and perineural alterations. A critical review of the literature supports this thesis and shows its incorporation into routine daily evaluation to be highly recommendable (AU)