Intraoperative Neurophysiological Monitoring in Syringomyelia Surgery: A Multimodal Approach.

Syringomyelia can be associated with multiple etiologies. The treatment of the underlying causes is first-line therapy; however, a direct approach to the syrinx is accepted as rescue treatment. Any direct intervention on the syrinx requires a myelotomy, posing a significant risk of iatrogenic spinal cord (SC) injury. Intraoperative neurophysiological monitoring (IONM) is crucial to detect and prevent surgically induced damage in neural SC pathways. We retrospectively reviewed the perioperative and intraoperative neurophysiological data and perioperative neurological examinations in ten cases of syringomyelia surgery. All the monitored modalities remained stable throughout the surgery in six cases, correlating with no new postoperative neurological deficits. In two patients, significant transitory attenuation, or loss of motor evoked potentials (MEPs), were observed and recovered after a corrective surgical maneuver, with no new postoperative deficits. In two cases, a significant MEP decrement was noted, which lasted until the end of the surgery and was associated with postoperative weakness. A transitory train of neurotonic electromyography (EMG) discharges was reported in one case. The surgical plan was adjusted, and the patient showed no postoperative deficits. The dorsal nerve roots were stimulated and identified in the seven cases where the myelotomy was performed via the dorsal root entry zone. Dorsal column mapping guided the myelotomy entry zone in four of the cases. In conclusion, multimodal IONM is feasible and reliable and may help prevent iatrogenic SC injury during syringomyelia surgery.

RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.

INTRODUCTION: Pathogenic expansions in RFC1 have been described as a cause of a spectrum of disorders including late-onset ataxia, chronic cough, and cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). Sensory neuronopathy/neuropathy appears to be a major symptom of RFC1-disorder, and RFC1 expansions are common in patients with sensory chronic idiopathic axonal neuropathy or sensory ganglionopathy. We aimed to investigate RFC1 expansions in patients with suspected RFC1-related disease followed-up in a Neuromuscular Diseases Unit, with a particular interest in the involvement of the peripheral nervous system. METHODS: We recruited twenty consecutive patients based on the presence of at least two of the following features: progressive ataxia, sensory neuropathy/neuronopathy, vestibulopathy and chronic cough. Medical records were retrospectively reviewed for a detailed clinical description. More extensive phenotyping of the RFC1-positive patients and clinical comparison between RFC1 positive and negative patients were performed. RESULTS: Biallelic AAGGG repeat expansions were identified in 13 patients (65%). The most frequent symptoms were chronic cough and sensory disturbances in the lower extremities (12/13). Only 4 patients (31%) had complete CANVAS. The phenotypes were sensory ataxia and sensory symptoms in extremities in 4/13; sensory ataxia, sensory symptoms, and vestibulopathy in 3/13; sensory symptoms plus chronic cough in 2/13. Chronic cough and isolated sensory neuronopathy were significantly more prevalent in RFC1-positive patients. CONCLUSION: Pathogenic RFC1 expansions are a common cause of sensory neuropathy/neuronopathy and should be considered in the approach to these patients. Identification of key symptoms or detailed interpretation of nerve conduction studies may improve patient selection for genetic testing.

Usefulness of intravenous lacosamide in status epilepticus.

Lacosamide (LCM) is a treatment option for status epilepticus (SE) described in several series. We therefore proposed to describe its use in status epilepticus patients in our hospital. All patients admitted to our hospital for SE from September 2010 to April 2012 were evaluated. We collected related variables including the type of SE, etiology, antiepileptic drugs (AEDs) used, loading dose of AEDs, cessation of SE after AEDs, ICU admission and mortality. In those patients receiving LCM, we reviewed the infusion rate and time to response. We compared patients receiving LCM with patients in whom it was not used. This was a retrospective and uncontrolled study. A total of 92 patients were included; 67.7 % of SE patients who received LCM responded to treatment. The vast majority of the patients presented non-convulsive and motor focal SE. When we selected patients to receive four or more AEDs, the LCM efficacy was 55.6 %, a very similar result compared to when it was not used. Subsequently, we analyzed the sample regarding the AED administered as the second or third line of treatment, and the responder rate was significantly higher when LCM was used (84.6 vs. 47.8 %, p 0.041). After an adjusted regression analysis, the use of LCM was independently associated with cessation of SE. The total percentage of undesirable effects was very low (12 %), and they were all mild. No relationship was found between a specific etiology and better response. LCM is a useful drug that represents an alternative in the treatment of non-convulsive or focal motor SE. Its efficacy might be more important when it is administered as a second or third option after benzodiazepines. A randomized trial is required to confirm these results.

[Reversible encephalopathy caused by valproic acid in an adolescent with idiopathic generalised epilepsy]. / Encefalopatía reversible por ácido valproico en un adolescente con epilepsia generalizada idiopática.

INTRODUCTION: Encephalopathy due to valproic acid (VPA) is a rare complication leading to a disorder that affects the patient's mental status to a greater or lesser extent and which can be accompanied by a paradoxical worsening of the seizures. The diagnosis is obvious when it appears within the context of hyperammonemia or a liver pathology, but can be difficult to diagnose if it appears in isolation in patients who show no other signs of intoxication due to VPA. CASE REPORT: We report the case of an adolescent who suffered idiopathic generalised epilepsy and presented sub-acute cognitive impairment and a worsening of his pattern of seizures some months after starting treatment with VPA. These manifestations were accompanied by a slowing of the baseline electroencephalogram (EEG) tracing; no biochemical signs of overdosage or toxicity that could be attributed to the drug or any other possible aetiology were observed. Withdrawing VPA resulted in a swift improvement in the patient's mental status and in the control of his seizures. Likewise, EEG recordings also returned to normal. CONCLUSIONS: Encephalopathy due to VPA should be considered in patients who present a deterioration of their neurological status, whether associated to an aggravation of their seizures or not, despite the absence of any analytical signs suggestive of VPA toxicity or overdosage. If liver functioning is not affected, withdrawal of the drug will determine the disappearance of the symptoms and will also allow confirmation of the diagnosis.

Trastorno de conducta durante el sueño REM como primera manisfestación de atrofia olivopontocerebelosa / Rem sleep behaviour disorder as an early marker of olivopontocerebellar atrophy

INTRODUCCIÓN. El Trastorno de Conducta durante el Sueño REM (TCSR) se caracteriza por pérdida de la atonía muscular propia de este estadio, acompañándose de actos motores. Se ha asociado a diversas enfermedades neurodegenerativas. Describimos un paciente con TCSR como síntoma inicial de enfermedad neurodegenerativa consistente en demencia, ataxia y parkinsonismo. CASO CLÍNICO. Varón de 55 años remitido por hipersomnia en 2002. La anamnesis constata TCSR de doce años de evolución. La exploración y Escala Epworth de Somnolencia fueron normales. La PSG mostró un patrón respiratorio normal y un incremento importante del tono muscular durante el sueño REM. Diagnosticado como parasomnia REM se inició tratamiento. Al año refiere acusada pérdida de memoria, dificultad para aparcar, sensación de "caminar sobre algodones" y su familia constata cambio conductual. La exploración evidenció marcha atáxica, dismetría, disdiadococinesia izquierdas y Romberg positivo. La TC y SPET craneales y el EEG fueron normales. En 2005 se añadió rigidez extrapiramidal izquierda, incontinencia urinaria y habla escándida con empeoramiento del deterioro cognitivo y la dificultad para la marcha. En ese momento una TC craneal muestra atrofia cerebelosa y el SPET moderada hipoperfusión cortical difusa y cerebelosa y disminución de perfusión de ganglios basales y tálamo izquierdo. CONCLUSIÓN. Este caso ilustra la necesidad de un seguimiento de los pacientes con TCSR por la posibilidad de representar el primer síntoma de una enfermedad neurodegenerativa de desarrollo posterior (AU)

INTRODUCTION. The REM Sleep Behaviour Disorder (RBD) is characterised by the intermittent loss of REM sleep atonia and the appearance of elaborate motor activity associated to dream mentation. It has been associated to some neurodegenerative diseases. We describe a patient suffering from RBD as initial symptom of neurodegenerative disease consisting of dementia, ataxia and parkinsonism. CASE REPORT. Man, 55 years old, remitted in 2002 for hypersomnia. Anamnesis showed a twelve years RBD evolution. Neurological examination and Epworth Sleepiness Scale were normal. Nocturnal PSG showed a normal respiratory pattern and important increase of muscular tone during REM sleep. Diagnosed as REM parasomnia, corresponding treatment was started. One year later, he related a noticeable memory loss, difficulty for parking, sensation of "walking on cotton" and his family mentioned a behavioural change. During exploration, ataxic gait, left dismetry, disdiadochokinesia and positive Romberg were found. Cerebral TC and SPET were normal. In 2005, extrapyramidal left rigidity, urinary incontinence and scandidum speech talk with worsening of cognitive impairment and difficulty for walking appeared. The performed cranial TC showed cerebellar atrophy and the SPET moderated cortical diffuse and cerebellar hypoperfusion and perfusion diminution in basal ganglia and left thalamus. CONCLUSION. This case report shows the necessity of controlling patients suffering from RBD, since this disorder might be the first symptom of a neurodegenerative disease (AU)

Hematoma disecante intramiocárdico postinfarto tras revascularización coronaria percutánea / Postinfarction intramyocardial dissecting hematoma after percutaneous coronary revascularization

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