Revista de neurologia最新文献

Aim: To determine post-surgical cognitive risk and associated factors according to lesion location in a sample of patients evaluated for epilepsy surgery with Wada test at the Fundacion Instituto Neurologico de Colombia.

Materials and methods: An observational, retrospective, analytical study was completed in patients with drug-resistant temporal lobe epilepsy candidates for epilepsy surgery treated from 2001 to 2021, who completed the Wada test as part of the pre-surgical evaluation. A descriptive analysis of sociodemographic, clinical, imaging and neuropsychological variables was completed; a multivariate logistic regression was performed analyzing factors associated with resection risk in patients with left lesions. RESULTS A total of 369 patients were included, 54.74% of the cases were women, with a median age of seizure onset of 11 years. 92.66% of the cases had lesional epilepsy and 68.56% were secondary to hippocampal sclerosis. Left hemisphere was the most frequently affected (65.68%) being dominant for memory and language in most of the patients with a proportion of 42.82% and 81.3%, respectively. The median functional adequacy was 43.75 (IQR 0-75) and the functional reserve was 75 (IQR 25 -93.75). In 104 patients, the Wada test determined a resection risk. In patients with a left lesion, it was found that functional reserve (PRadjusted 0.99, CI 95% 0.9997-0.9998) and having a right hemispheric dominance for memory (PRadjusted 0.92, CI 95% 0.547-0.999) were protective factors for post-surgical resection risk.

Conclusion: Wada test is a useful tool for surgical decision-making in patients with drug-resistant temporal lobe epilepsy. When considering cognitive risk, components such as memory dominance and functional reserve should be considered as protective factors for postsurgical cognitive function preservation in patients with left lesions.

Introduction: Pathogenic variants in BRWD3 gene have been described as a rare cause of syndromic X-linked intellectual disability. Its phenotype shows neurodevelopmental delay with intellectual disability in all reported patients, facial dysmorphic features, macrocephaly, overgrowth and obesity. The great majority of cases yield point variants in the gene, only three large deletions including only the BRWD3 gene have been reported. The BRWD3 protein is an epigenetic reader that regulates chromatin remodeling. We report a boy with a compatible phenotype and a deletion including only this gene.

Case report: Boy, without family and perinatal pathological background, with neurodevelopmental delay: psychomotor delay, speech delay and intellectual disability, macrocephaly (p > 99) and obesity. Phenotype with facial dysmorphic features: wide forehead, deep set eyes, bulbous nose, prominent ears and pointed chin. The array-CGH analysis showed a 586 kb deletion at Xq21.1 including only one gene with associated disorder, BRWD3. Afterwards, the deletion was also identified in his asymptomatic mother and sister.

Conclusions: Our patient confirms that the haploinsufficiency due to BRWD3 deletion is a causal genetic mechanism of the BRWD3-related syndromic X-linked intellectual disability. It is important to recognize the phenotype for the diagnosis and follow up of the patients, and also to carry out the family genetic analysis in order to identify and give genetic counselling to the women who also have the genetic defect, because the majority of them are asymptomatic, as the mother and sister of our patient.

Introduction: Depression is one of the most prevalent psychiatric conditions in adulthood, reaching figures of around 20%. The methodologies used to study depression are varied, and range from a self-administered test to structured psychiatric assessment. Several studies of patients with multiple sclerosis (MS) have been conducted in the last 20 years, and figures of around 35% have been found for depressive symptoms, while depressive disorders are less frequent, at approximately 21%.

Aims: The aim of this study is to evaluate the usefulness of patient self-reported scales such as the Beck depression inventory (BDI) for identifying depressive symptoms in patients with MS, and to analyse their correlation with the diagnosis of clinical depression or depressive disorder using the psychiatric clinical interview based on the criteria of the Diagnostic and statistical manual of mental disorders, fifth edition.

Patients and methods: This is a multicentre descriptive cross-sectional study of patients with MS and depressive symptoms. The BDI and the Hamilton depression rating scale (HDRS) were used, and the patients with the highest scores underwent psychiatric assessment.

Results: A total of 191 patients were included; 81 of these (40.5%) had depressive symptomatology in the pathological range according to the BDI (cut-off point of 14), and 20 had a severe score (above 28). Nineteen patients with severe depressive symptoms according to both scales were selected and finally evaluated by a psychiatrist, who also assessed five patients who according to the neurologist had severe depressive symptoms despite a BDI score of almost 28, but did not reach that level. The suspected major depressive disorder was confirmed in only four (21%) cases with BDI scores indicative of severe symptoms. There is no correlation between the severity score as evidenced by the BDI and the psychiatric assessment. A major depressive disorder was diagnosed in 16 (66.6%) of the 24 patients with BDI > 26 evaluated by psychiatry. A score above 26 on the BDI enables identification of 75% of cases of depressive disorder without subtyping. The correlation between the HDRS and the BDI was statistically significant (r = 0.8; p < 0).

Conclusions: The BDI is a useful screening test for identifying patients with depressive symptoms; in specific terms, a score above 26 is probably indicative of a depressive disorder that may benefit from psychiatric assessment.

Introduction: Basilar artery dolichoectasia (BADE) refers to abnormal enlargement or displacement of the basilar artery (BA). The previously reported prevalence of BADE among patients with stroke is 0.3 to 33.1%, however, it might vary among studied populations. We aim is to determine the prevalence of BADE in patients presenting with acute ischemic stroke (AIS) or transient ischemic attack (TIA) in a Stroke Unit in a single center in Spain.

Patients and methods: Patients 50 years old or older presenting with AIS or TIA were eligible for inclusion. Demographic and clinical data were prospectively collected. Two neuroradiologists, blind to each other, assessed BA morphology.

Results: Among 126 patients, 34.1% fulfilled the criteria for BADE (ectasia or dolichosis). BADE was associated with advanced age (p = 0.04). Patients with fetal-type circle of Willis presented smaller BA diameters (2.9 ± 0.1 vs. 3.5 ± 0.1; p < 0.001), whereas patients with lacunar strokes presented a greater diameter than other stroke subtypes (3.8 ± 0.3 mm vs. 3.3 ± 0.1 mm; p = 0.04).

Discussion and conclusions: In this single-center study of patients presenting with AIS or TIA, the prevalence of BADE (ectasia or dolichosis) is high. Further studies focusing on Spaniards should confirm our results.

Introduction: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition.

Case reports: We report three patients who presented regression in their neurodevelopment, focal dystonia of the lower limbs with subsequent generalization, in whom two de novo variants were reported in the KMT2B gene, with a mean age of presentation lower than the average reported worldwide.

Conclusions: We describe the largest local series of patients with KMT2B dystonia in Colombia (to our knowledge), which allows us to expand the genotype-phenotype relationship of this genetic dystonia. Although many affected individuals follow a similar disease course, it is important to determine clinical features that may be associated such as neurodevelopmental regression.

Aim: Patients whose epilepsy begins with seizures with unknown etiology in old age have been studied to a limited extent. The aim is to clinically characterise these patients, and predict their risk of developing epilepsy in the long term.

Materials and methods: This is a retrospective observational study of patients over 55 years old experiencing a first epileptic seizure with unknown etiology. The data were collected from their clinical history, including electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) results.

Results: Eighty-seven patients (58.6% male; 71.5 ± 8.1 years) were included. The mean follow-up was 7.3 ± 4.9 years. The most common vascular risk factor was arterial hypertension (77%; n = 67). Focal seizures with altered consciousness were the most frequent type of seizure (44.8%; n = 39), followed by focal seizures evolving to bilateral tonic-clonic seizures (39.1%; n = 34). Brain MRI showed cortical atrophy (50%; n = 42) and signs of small-vessel vascular disease (SVVD) (67.8%; n = 57). Interictal epileptiform EEG abnormalities were observed in 43.7% (n = 38) of the patients, mostly with temporal localisations (94.7%; n = 36). 44.8% (n = 39) had mild cognitive impairment at baseline. Recurrence of seizures, which was observed in 49 patients (56.1%), occurred after a median of 12 months (interquartile range: 4.4-25.9). Finally, 71 patients (81.6%) developed epilepsy.

Conclusion: The risk of epilepsy in the long term following a single seizure of unknown etiology in elderly patients is greater than 80%. Arterial hypertension and mild cognitive impairment at baseline are the most common clinical features. Cortical atrophy and the presence of SVVD are frequent in MRI, and routine EEGs do not usually show epileptiform alterations.

Introduction: Acute ischemic stroke is one of the leading global causes of morbidity and mortality. Mechanical thrombectomy has improved the functional prognosis of this condition; however, hemorrhagic transformation is a common complication. Spectral computed tomography (CT) imaging, as a neuroimaging control test, distinguishes contrast extravasation from hemorrhagic transformation due to the differential behavior of materials at dual energy levels. This distinction is valuable in its clinical therapeutic management.

Material and methods: A single-center, observational, retrospective study was conducted in which the presence of various clinical, radiological, and therapeutic variables in patients with acute ischemic stroke treated with mechanical thrombectomy at our hospital between July 2022 and March 2023 was investigated using access to a dissociated database and medical records.

Results: Out of 155 included patients, spectral cranial CT was performed in 63, and conventional cranial CT in 75. In the spectral CT group, 21 hyperdense images were detected, compared to 28 in the conventional CT group. In 42.8% of cases where hyperdensity was detected in the conventional CT group, it was not possible to distinguish between contrast extravasation and hemorrhagic transformation, in contrast to the 4.8% in the spectral CT group (p < 0.001).

Conclusions: Spectral CT provides high diagnostic confidence to the radiologist in identifying the type of detected hyperdensity, thereby offering significant therapeutic confidence to the neurologist in early resuming anticoagulation therapy.

Normal epileptiform-like variants or benign epileptiform variants are a diagnostic challenge in the interpretation of electroencephalograms, which require the knowledge and extensive experience of those responsible for the electroencephalographic report. They include a heterogeneous group of findings, some quite uncommon, initially related to epilepsy and various neurological conditions. Most of them are currently considered variants with no pathological significance, and their over-interpretation usually leads to misdiagnosis and the establishment of unnecessary treatments. Prevalence data are variable and usually come from selected populations, so they are difficult to extrapolate to a healthy population. Studies with invasive electrodes and recent series link some of these variants with epilepsy. We aim to review the characteristics and prevalence of the main benign epileptiform variants and to update their clinical significance.

Introduction: Genetic myopathies constitute a collection of rare diseases that significantly impact patient functionality and quality of life. Early diagnosis of genetic myopathies can prevent future complications and provide families with genetic counselling. Despite the substantial impact of genetic myopathies on the adult population, the global epidemiology of these disorders is inadequately addressed in the literature.

Aims: To enhance understanding of both the epidemiology and genetics of these disorders within the province of Alicante, situated in southeastern Spain.

Material and methods: Between 2020 and 2022, a prospective observational study was conducted at the Alicante Health Area-General Hospital, enrolling patients aged 16 years or older with suspected genetic myopathies. Sociodemographic, clinical, and genetic data were collected. The reference date for prevalence calculation was established as December 31, 2022. Official demographic data of the health area were used to set the population at risk.

Results: In total, 83 patients were identified with confirmed genetically related myopathy, resulting in an overall prevalence of 29.59 cases per 100,000 inhabitants. The diagnostic yield for molecular genetic testing was found to be 69.16%. The most prevalent genetic myopathies identified included myotonic dystrophy (27.5%), dystrophinopathies (15.7%), and facioscapulohumeral dystrophy (15.7%).

Conclusion: The prevalence of GMs can vary considerably depending on the geographical region and the studied population. The analysis of diagnostic yield suggests that genetic studies should be considered useful in the diagnosis of genetic myopathies.