Revista de neurologia最新文献

Introduction: Epilepsy is a common manifestation in inborn errors of metabolism, with varying degrees of severity and response to treatment.

Objective: To determine its incidence and characteristics in metabolic diseases.

Material and methods: A retrospective review of neuropaediatric and metabolic databases was performed. Data on the type of epilepsy, age of onset and refractoriness were collected.

Results: Two cases out of three (66%) with molybdenum cofactor deficiency and neonatal epileptic encephalopathy; three with vitamin-sensitive epilepsies: pyridoxamine sulphate oxidase deficiency, antichitin and biotinidase deficiency, early onset and good seizure control with biotin; one with homocystinuria, with late onset and polytherapy; one with Menkes disease difficult to control; two with GLUT-1 deficiencies with absent and generalized discharges in the electroencephalogram; five (33%) peroxisomes in monotherapy, except for a suspected peroxisome biogenesis deficiency; 13 (34%) lysosomal deficiencies; a glycosylation disorder, with infantile and refractory spasms; seven (8.5%) organic aminoacidopathies and acidurias, one with infantile spasms (propionic acidemia), three with nonketotic hyperglycinemia with neonatal epileptic encephalopathy, one with monotherapy (leukinosis) and two (3.3%) with unscreened hyperphenylalaninemia; and five (20%) mitochondrial, most of which had oxidative phosphorylation deficiencies.

Conclusions: The diagnosis of metabolic epilepsy requires a high level of suspicion in unscreened diseases. The semiology of the seizures and the electrocardiogram data are not characteristic, but some clinical data may provide guidance, such as early onset and refractoriness, neuroimaging and some biochemical markers. Although genetic studies are increasingly cost-effective in epilepsy, we must continue to search for earlier biomarkers and test targeted therapeutic trials.

The original idea of rejecting studies with low power and authorising them if their power is sufficiently high is reasonable and even an obligation, although in practice this reasoning is heavily constrained by the fact that the power of a study depends on several factors, rather than a single one. Furthermore, there is no threshold separating 'high' power values from 'low' power values'. However, if the result is very significant, considering how powerful it was it makes little sense after the study has been carried out. It is only possible to take advantage of the result. Situations in which this result is not statistically significant warrant further consideration. Consideration of the power may be useful in these circumstances. This article focuses on the position that should be adopted in these cases, and it shows that in order to draw reasonable conclusions about the effect size of the population, calculating the confidence interval is more useful than calculating the power, and its interpretation is more easily understood by physicians who lack training in statistical analysis.

Introduction: Parkinson's disease (PD) can affect the intelligibility of speech. Although studies of vowel production are useful for measuring this impairment, they do not exist in Spanish speakers with the disease who have been treated with subthalamic nucleus deep brain stimulation (STN-DBS). STN-DBS is an effective treatment for the classic signs of PD, but with varied effects on speech.

Patients and methods: Data from two individuals with PD treated with STN-DBS were studied: one (P1) had impairment and the other (P2) had stable speech intelligibility after STN-DBS implantation. The triangular vowel space area (tVSA) and the vowel articulation index (VAI) were measured and compared before the implantation surgery, and at three, six and nine months after surgery. These measurements were compared with measurements of speech intelligibility (percentage of words correctly identified and degree of intelligibility).

Results: Both participants presented variations in measurements of vowel articulation after surgery. In P1, the reduction in the tVSA, but not the post-surgical change in the VAI, was consistent with reduced speech intelligibility. However, in P2, both measurements (tVSA and VAI) reflected stable speech intelligibility after surgery.

Conclusions: Reduced speech intelligibility in Spanish speakers with PD after STN-DBS implantation may be reflected in a reduced tVSA.

Introduction: Hereditary distal myopathies represent a heterogeneous group of rare genetic disorders characterized by progressive distal muscle weakness.

Aim: The objective of this study was to describe the clinical spectrum and genetic findings in a series of patients with distal myopathy from Colombia.

Patients and methods: A retrospective review of the medical records of 12 patients with distal myopathy seen at a neuromuscular center in Bogota, Colombia, between 2015 and 2023 was performed. Clinical data, family history, diagnostic studies and genetic test results were obtained.

Results: The mean age of onset was 15.7 years. Patterns of limb weakness included distal involvement in the upper and lower extremities (50%), distal involvement in the lower extremities in isolation (33.3%), and proximal and distal involvement in the upper and lower extremities (8.3%). Additional weakness was observed in the face (8.3%) and paraspinal muscles (25.0%). Creatine kinase levels were elevated in 58.3% of cases. Electromyography revealed a myopathic pattern in 91.6% of cases. Variants identified included MYH7, ANO5, TTN, HNRNPA1, DES, DYSF and CAV3 genes.

Conclusion: This case series describes the clinical and genetic spectrum of inherited distal myopathies in Colombia. Findings demonstrate phenotypic and genotypic heterogeneity, with variants in genes encoding structural proteins. There is a need to expand access to genetic testing in Latin America to enable more accurate comprehensive diagnosis and treatment.

Introduction: Aortic arch complex atheromatosis is a source of cerebral embolism. A percentage of lacunar infarct could be of embolic etiology, especially due to microemboli of the aortic arch.

Case report: We present the case of a 63-year-old hypertensive man suffering from dysarthria-clumsy hand syndrome for a right hemispheric minor ischemic stroke. The patient developed sequential acute thromboembolism of the left lower and right upper limbs. Computed tomography angiography revealed an aortic arch thrombus. Vascular surgery was successfully performed.

Conclusion: This case highlights the importance of considering embolic sources in lacunar syndromes, especially at the level of the aortic arch.

Introduction: There are many variables to be considered in the withdrawal of treatment for epileptic seizures, which requires a risk-benefit assessment.

Patients and methods: A retrospective study of patients in a neuropaediatric practice who required the reintroduction of treatment for epilepsy after its initial withdrawal, and who continue to receive anti-seizure drugs.

Results: Twenty-three of 57 children whose treatment was withdrawn are currently being administered the treatment as a monotherapy. Attempts at withdrawal were made with 17 patients, with a mean seizure-free period of 26 months; range: 8-47 months (excluding one patient who never stopped presenting seizures). Mean age at the time of the last known data: 16 years; range: 7-28 years. Average time until the first seizure after withdrawal: 12 months; range: 1-82 months. Seizures persist despite the current treatment administered in eight cases. Two or three attempts to withdraw treatment were made in six patients, with a mean seizure-free period of 28.6 months; range: 22-48 months. Mean age at the time of the last known data: 18.68 years; range: 13-37 years. Average time until the first seizure after withdrawal: 8.2 months; range: 1-30 months. They presented seizures after treatment four was reintroduced. 52% of the patients presented seizures while receiving the drug, which was discontinued. The treatment was withdrawn in cases meeting criteria for persistent seizures: three refractory epilepsies, five symptomatic focal epilepsies, four cases with intellectual disability, five adolescent-onset epilepsies, and failures in previous withdrawal in 23 cases and 30 attempts.

Conclusion: The decision to withdraw treatment must be personalised, and consider the risk of relapse, taking into account efficacy and tolerability, and behaviour and neurodevelopment in particular.

This review, conducted by the Andalusian Epilepsy Society, provides an update on recent advances in the treatment of drug-resistant epilepsy, focusing on three new anti-seizure drugs: cenobamate, fenfluramine and cannabidiol. These emerging drugs offer new therapeutic alternatives for patients with drug-resistant focal epilepsy, Dravet syndrome, and Lennox-Gastaut syndrome. The primary objective of this review is to provide healthcare professionals with an up-to-date overview of the efficacy, safety and potential clinical applications of these treatments, backed by the latest evidence. In addition to reviewing the available clinical evidence, the document addresses essential practical considerations for the implementation of these drugs in routine clinical practice, including aspects such as their dosage, drug interactions, and management of their side-effects. With this review, the Andalusian Epilepsy Society aims to contribute to improving the care for and quality of life of patients with drug-resistant epilepsy and their families.

Introduction: Migraine is the second most common type of primary headache disorder in Europe, accounting for 2.8% of visits to emergency departments. Some studies have shown that emergency departments may approach the disorder in ways that may be insufficient or inadequate.

Materials and methods: A retrospective observational study was conducted of patients with migraine who were discharged from the adult emergency department of the Hospital Universitario Virgen del Rocio in 2020. Variables related to their healthcare were analysed.

Results: 73.9% were women, with a mean age of 38 years. They were not asked about the frequency of their migraines. The mean length of time patients spent in the emergency department before receiving initial medical care was 45 minutes (standard deviation: 41). Computed tomography scans were requested for 27.4% of the patients, and these were not pathological. Nonsteroidal anti-inflammatory drugs were the most commonly used treatment for the symptoms. Opioids were also used. Preventive treatments were prescribed in 6% of cases.

Conclusions: Management of migraines by emergency departments is limited, and as such continuous and updated training is important. The use of triptans and occipital nerve blocks should be encouraged, and the use of opioids, among other drugs, should cease.

Introduction: Neurovascular involvement in patients with neurofibromatosis type 1 (NF1) presents with a wide spectrum of manifestations. Its frequency is low, albeit probably underestimated. There is currently no known specific treatment, and treatment is based on recommendations with limited evidence. This report describes a case of vascular dysplasia in a patient with NF1.

Case report: A 67-year-old woman with a genetic diagnosis of NF1 and a history of multiple exeresis of neurofibromas in the left cervical region. The patient presented with a painful flare-up and swelling in the region. A cervical magnetic resonance imaging was performed, which showed signs of plexiform neurinoma growth and a lesion suggestive of aneurysm in the left cervical internal carotid artery. A subsequent computed tomographic angiography confirmed the presence of a thrombosed aneurysm with associated critical stenosis, and identified three additional aneurysms in the proximal left vertebral artery. Given the asymptomatic presentation and adequate haemodynamic compensation, the patient was prescribed a conservative treatment and clinicoradiological follow-up.

Conclusions: Neurovascular alterations associated with NF1 are infrequent, and the optimal treatment for them is unknown. Studies to define its true prevalence, determine its pathophysiological substrate and estimate the risk of cerebrovascular complications more precisely are needed. This could provide more robust recommendations for the population of NF1 patients, especially in asymptomatic cases.

Introduction and aims: The objective of treatment of complex regional pain syndrome is to relieve pain and restore function in the affected limb. The aim of this study is to evaluate spinal cord stimulation as a therapy for patients diagnosed with complex regional pain syndrome, for whom adequate pain control could not be achieved with other previous treatments.

Patients and methods: A prospective study was conducted from 2018 to 2020. We included patients diagnosed with complex regional pain syndrome refractory to other treatments or techniques, classified by demographic data. Efficacy, functionality and opioid dependence in each patient were subsequently monitored for one year.

Results: Seven of the 13 patients (53.84%) included in the study achieved significant pain relief with spinal cord stimulation. Improvements in pain and functionality were obtained, and both were statistically significant (p < 0.001 and p = 0.003, respectively). Improvement in the Oswestry Disability Index/Neck Disability Index (ODI/NDI) was significantly associated with body mass index (BMI) (p = 0.011) and was lower as BMI increased.

Conclusions: The results suggest that spinal cord stimulation is an effective therapeutic option for patients with CRPS refractory to other treatments. BMI and ODI/NDI also showed a significant correlation.