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.

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.

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.

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.

[Ulnar neuropathy in the elbow and Martin-Gruber anastomosis in four patients. The contribution made by ultrasound imaging]. / Neuropatia cubital en el codo y anastomosis de Martin-Gruber en cuatro pacientes. Aportacion ecografica.

TITLE: Neuropatia cubital en el codo y anastomosis de Martin-Gruber en cuatro pacientes. Aportacion ecografica.

Contribution of a new electrophysiologic test to Morton's neuroma diagnosis.

BACKGROUND: Morton's neuroma causes metatarsalgia due to the interdigital neuropathy. The small nerve diameter compromises their evaluation in image studies. To overcome this problem we propose a new electrophysiological test. METHODS: We conducted a prospective case-control study performing a orthodromic electroneurography using subdermal electrodes in controls and patients to assess the validity. Additionally all patients were tested with magnetic resonance. Some patients required surgery and subsequent histological evaluation. RESULTS: The new ENG procedure showed higher sensitivity and specificity. Methodological standardization was easy and the test was well tolerated by the subjects. CONCLUSIONS: Our test demonstrated remarkable diagnostic efficiency, and also was able to identify symptomatic patients undetected by magnetic resonance, which underlines the lack of correlation between the size and intensity of the lesion. This new electrophysiological method appears to be a highly sensitivity, well-tolerated, simple and low-cost for Morton's neuroma diagnosis.

[Contribution made by sonography in a patient with motor neuropathy with conduction blocks]. / Aportación de la sonografía en un paciente con neuropatía motora con bloqueos.

TITLE: Aportacion de la sonografia en un paciente con neuropatia motora con bloqueos.

EEG characterization of audiogenic seizures in the hamster strain GASH:Sal.

The study was performed to characterize GASH:SAL audiogenic seizures as true epileptic activity based on electroencephalographic markers acquired with a wireless implanted radiotelemetry system. We analyzed cortical EEG patterns synchronized with video recordings of convulsive behavior of the GASH:Sal hamster following an acoustic stimulus. All GASH:Sal presented archetypal motor symptoms comparable to current animal models of generalized tonic-clonic epilepsy. Seizures consisted of an initial bout of wild running, followed by opisthotonus, tonic-clonic convulsions, tonic limb extension, and terminated in postictal depression. EEG patterns correlated with behavior and displayed phase appropriate spike-wave complexes, low-amplitude desynchronized activity, and high frequency large-amplitude peaks. Our results confirm that electroencephalographic profiles of the audiogenic seizures of the hamster GASH:Sal are parallel to EEG patterns of other animal models of generalized tonic-clonic seizures. Therefore, this animal may serve as an appropriate model for epilepsy research.

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.

We present a girl with the characteristic clinical picture associated with Marden-Walker syndrome (MWS; OMIM 248700), including mask-like face with blepharophimosis, joint contractures, intellectual disability, a multicystic dysplastic kidney and cerebral dysgenesis. The long-term follow-up allowed us to monitor the evolution of the phenotype in this patient, and among the main findings we highlight the following: demyelination of the pyramidal tract demonstrated by transcranial magnetic stimulation and the involvement of the levator muscles of angle of mouth in fixed facial expression with relative integrity of the rest of the facial expression muscles. A 244 k array comparative genomic hybridization (aCGH) was carried out and showed a de novo interstitial deletion of approximately 2.84 Mb affecting only the cytoband 21q22.11 (genome coordinates chr21:31,874,016-34,711,763). We selected 10 of the most recent published cases with either total or partial deletions of cytoband 21q22.11 that provided good characterization of the genomic size or the genes in the deleted regions. We observed that in nine of the 10 cases the deleted regions included the RUNX1 gene in 21q22.12, which is not affected in the current patient's deletion or in that of Patient 3 from Roberson et al. [2011]. After a comparison of shared deleted genes between cases, and correlation of their potential phenotypes, we concluded that the pattern of defects considered for a diagnosis of MWS may represent part of the phenotypic expression of a partial or total deletion of 21q22.11.

[Value of simultaneous electromyographic recording of the levator palpebrae and the orbicularis oculi muscles as an early diagnostic marker for blepharospasm]. / Aportación del registro electromiográfico simultáneo del levator palpebrae y el orbicularis oculi como marcador diagnóstico precoz de blefaroespasmo.

INTRODUCTION: Blinking is usually a spontaneous movement that takes place as a consequence of the alternating and antagonistic activity of the orbicularis oculi and levator palpebrae superioris muscles. In order to achieve an efficient movement, they are regulated by a reciprocal inhibition in such a way that the agonistic movement triggers the simultaneous inhibition of the antagonist, and vice-versa. Co-contraction is the dysfunction of this mechanism and is a significant phenomenon in dystonic disorders, especially in simple movements that are not subject to variability, as is the case of blinking. Blepharospasm is the most frequent dystonia affecting adults and it is easy to diagnose. In incipient processes it may offer some difficulties and can even be mistaken for other processes. We evaluate the possibility of an early diagnosis of blepharospasm in patients with palpebral hyperfunction with a short time to progression. PATIENTS AND METHODS: A prospective evaluation of 23 patients with suspected blepharospasm was conducted. Each of them was submitted to a simultaneous electromyographic study of the orbicularis oculi and levator palpebrae muscles. RESULTS: The presence of co-contraction in any of the blinking movements recorded was related with the chances of developing blepharospasm in the following years. None of the patients who did not have dystonic blinking presented blepharospasm in the years of the follow-up; in contrast, it was developed by all of those who presented it on some occasion. CONCLUSIONS: Dystonic blinking was observed in all the patients with blepharospasm, and blinking was physiological in those who did not present it. Simultaneous electromyographic evaluation of the muscles of the eyelids is a simple, sensitive, well-tolerated and particularly specific examination that can be used to determine whether a patient will show blepharospasm in an early stage of development.