Neurologia Argentina最新文献

The Percheron artery is a rare arterial variant that irrigates the thalamic region bilaterally. Infarction due to obstruction of the Percheron artery has been reported at a frequency between 0.1 to 2% and classically causes an alteration in the level of consciousness, neurocognitive disorder and vertical gaze palsy. We present a 70-year-old female patient with altered level of consciousness, involvement of vertical gaze palsy, ophthalmoparesis and bilateral ptosis. The patient progressed with partial improvement of symptoms: she persisted severe bilateral ptosis and paresis of vertical gaze with slight improvement of the alteration of horizontal gaze and bilateral internuclear ophthalmoplegia. In conclusion, we report the atypical case of an infarction of the artery of Percheron and describe the anatomical substrate for presenting these clinical signs. It is important to suspect a possible case in every patient with symptoms of compromised level of consciousness and alteration in ocular mobility since this will allow us to make a timely diagnosis and treatment.

Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy, having a prevalence of 28,2 cases per 100.000 inhabitants. It is one of the genetically most complex neurodegenerative syndromes in which 31 cloned pathogenic genes have been described. Demyelinating forms with autosomal recessive transmission represent 4% of the European population affected by CMT. In countries with high consanguinity risk, the percentage may be higher. In gypsy ethnic groups it must be considered that three founding mutations represent three variants: CMT4D Lom type (NDRG1 mutation), CMT4G Russe type (HK1 mutation) and CMT4C (SH3TC2 mutation) all of them described in Spain. In this article, three cases of demyelinating CMT AR heredity and HK1 mutations will be discussed for the same gypsy families.

Introduction and objective

To describe the clinical characteristics of children with spinal muscular atrophy (SMA) followed at a Paediatric Hospital during 2021.

Patients and methods

Observational, cross-sectional, retrospective study.

Results

Of 74 patients included 41.9% were female, median age 96 (RIQ 60 - 135) months. Patients SMA type 1 n = 16 (24.6%); 2 n = 41 (55.4%); 3 n = 17 (23%). Median age at diagnosis for SMA 1: 6 (RIQ 4.2 - 7.7) months; 2: 16 (RIQ 12 - 24) months and 3: 36 (RIQ 24.5 - 48) months. Current motor status was described: 23 (31.1%) subjects lost motor achievements, 4 (5.4%) gained motor skills and 47 (63.5%) maintained functional level. Regarding access to standards of care, 55 (74.3%) had access to physical therapy and 67 (90.5%) had adequate equipment. 58 children (78.3%) had scoliosis. Regarding the respiratory profile, 65 (87%) subjects were performing airway clearance techniques; 31 (42.4%) required ventilatory support. 14 (18.9%) patients required hospitalization for respiratory intercurrences. Regarding pharmacological treatment, 40 (54%) participants received nusinersen.

Conclusion

Of the 74 patients, the majority were SMA 2, male, from Buenos Aires area and were enrolled in school. More than half maintained the highest motor achievement for their classification and phenotype. Noninvasive ventilation was the predominant method of ventilation. The incidence of hospitalizations for respiratory causes was low. Most had access to the necessary medical treatment and equipment.

Cerebral fat embolism (CFE) is an incomplete and rare form of fat embolism syndrome (FES), characterized by variable neurological compromise, including irritability, headache, seizures, stupor, and coma. It usually occurs in the first 12 to 72 hours after trauma. The case of a 77-year-old patient with a diagnosis of primary membranous glomerulonephritis is presented, who during hospitalization presented neurological deterioration, with altered state of consciousness, as a pure manifestation of fat embolism; which represented a diagnostic challenge given the causal association of non-traumatic origin, considered infrequent.

Introduction

Mitochondrial diseases are maternally inherited, and the most prevalent is MELAS syndrome. The clinical features of the disease are myopathy, encephalopathy, seizures, lactic acidosis, and stroke-like episodes (SLEs). Its typical presentation is in young adults, adolescents and children, its debut in older adults being much rarer.

Clinical cases

We present clinical cases of 2 female patients, daughter and mother, aged 31 and 75, respectively. Both are short of stature and had hearing loss as a previously shared symptom. The first with debut in early adulthood characterized by several episodes that resembled a stroke, lactic acidosis and seizures; and the second with encephalopathy, and a SLE. Both with brain MRI that showed extensive lesions without respecting specific vascular territories and an evolution with subsequent imaging improvement. The youngest performed a genetic test that confirmed mitochondrial disease. His mother debuted later, so the diagnostic suspicion was directed to MELAS. To assess the consequences, neuropsychological tests were performed, both with evidence of showing minor (daughter) and major (mother) neurocognitive disorder.

Conclusion

MELAS syndrome should be suspected in patients with recurrent SLEs and images that subsequently resolve. We emphasize the foolishness of a high diagnostic suspicion, even in late presentations after the 6 th decade of life. Although there is no specific therapy, the disease can be controlled with amino acid supplementation and strict nutritional guidelines to avoid metabolic crises that exacerbate the condition. It should be considered that there is no proven treatment to stop the progression of the disease.

Introduction

Different metabolic pathways may be altered after a seizure, including amino acids. Our study aims to analyze serum amino acid concentrations in patients with epilepsy through metabolomic evaluation using magnetic resonance spectroscopy and determine their utility as biomarkers of seizures.

Methods

A cross-sectional study involving patients with epilepsy and a healthy control group. Serum levels of fifteen amino acids were analyzed using magnetic resonance spectroscopy, and clinical-demographic variables were collected. Statistical analysis was conducted with SPSS21, considering a significant value of p ≤ 0.05.

Results

The study included fourteen patients with epilepsy and thirteen controls. Patients exhibited higher levels of glutamic acid (3.613 AUC vs. 2.861 AUC, p 0.043) and proline (4.851 AUC vs. 3.843 AUC, p 0.038), while phenylalanine (0.706 AUC vs. 0.861 AUC, p 0.016), tryptophan (2.129 AUC vs. 2.512 AUC, p 0.007), and threonine (4.424 AUC vs. 5.313 AUC, p 0.033) showed lower concentrations than the control group. Following seizures, a decrease in threonine (5.006 AUC vs. 4.424 AUC, p 0.007), isoleucine (3.974 AUC vs. 3.240 AUC, p 0.027), valine (2.783 AUC vs. 2.534 AUC, p 0.044), and leucine (1.790 AUC vs. 1.572 AUC, p 0.025) was observed in the serum.

Conclusion

The reduction in threonine, valine, isoleucine, and leucine after a seizure could be considered a biomarker for the disease, although further investigations are required to confirm these findings.

Background

Thyrotoxic periodic paralysis (TPP) is a rare but dangerous complication observed in thyrotoxic patients, where a clinical presentation of muscle compromise common in channelopathies occurs.

Objective

The objective of the study was to present 2 clinical cases of patients who presented PPT.

Clinical cases

Case 1: A 31-year-old male patient, with a progressive picture of asthenia, cramps, decreased muscle strength in the 4 extremities with greater involvement of the lower extremities, gait slower than usual, and tremor over the course of 4 days distal postural position in all 4 extremities, not triggered by any physical activity or stressful situation. Case 2: A 25-year-old male patient, with a 3-day progression of weakness in the 4 extremities, with a greater predominance in the lower extremities associated with myalgia in the thighs and calves, not triggered by any physical activity or stressful situation.

Conclusion

In the cases presented, the patients reported hypokalemia and uncontrolled hyperthyroidism in the paraclinical tests, so it was decided to perform management with K⁺ replacement to prevent rebound hyperkalemia and β blockers, with which an adequate evolution was obtained, concluding that it presented with PPT. This pathological entity should be suspected in patients with thyrotoxicosis, hypokalemia, and sudden proximal symmetric muscle weakness of the lower extremities.

Introduction

Although some studies have shown the presence of cardiac dysautonomia in amyotrophic lateral sclerosis (ALS) patients, its relationship with the disease is still controversial.

Objective

To explore cardiac dysautonomia in ALS and its possible association with disease evolution and patient's quality of life.

Materials and methods

We evaluated demographics and disease-related variables, comorbidities and quality of life in 20 ALS patients. We performed the autonomic symptoms profile and SF-36 (quality of life) scales. Patients were also evaluated with dynamometry, orthostatic testing and RR interval variability (RRIV) in resting and deep breathing electrocardiograms. Twenty age- and gender- matched healthy individuals served as controls for autonomic cardiovascular measurements.

Results

The mean age of ALS patients was 52 ± 14 years, 75% were male and 85% had spinal disease onset. The mean score as per the ALS-FRS and FVC were 25.65 ± 10.55 and 67% ± 21, respectively. Cardiac parasympathetic dysautonomia was found in 4 out of 17 (25%) ALS patients vs. none of the controls (P = 0.031). ALS patients with reduced RRIV did not differ statistically in any variably from those without. Only 1 patient (6%) vs. none of the controls had orthostatic hypotension (P  = 0.18).

Conclusion

Parasympathetic cardiac dysautonomia was observed in 25% of the ALS patients. Lack of association with epidemiological or ALS-related variables suggests a different pathological process.

Introduction

Among the idiopathic generalized epilepsies, absence epilepsy is the most prevalent type. They can be associated with cognitive, behavioral, or psychiatric disorders.

Objective

To describe the clinical and electroencephalographic characteristics, as well as the comorbidities, in children under 18 years old who had childhood and juvenile absences epilepsy.

Patients and methods

Retrospective, single-center, observational study in a referral center for 8 years.

Results

Of the 103 patients, 67 were female (65%). The median age of the first crisis was 7 years. Forty-four percent of patients had a personal history of seizures, and half had a family history of epilepsy. Learning disorders were present in 21% of the patients; 14% had associated attention-deficit hyperactivity disorders, and 11% had both. Anxiety and depression were found in 10% of children. The electroencephalogram, in most cases (68%), presented abnormal activity. The most used drug was valproic acid.

Conclusion

Behavioral, cognitive, and psychiatric comorbidities are common in children with childhood and juvenile absence epilepsy, so an active search for these disorders is required in order to achieve timely treatment and reduce the impact on the school life of children and adolescents.

Introduction

Mindfulness is defined as a form of conscious and deliberate attention to the present moment without judgment. The objective of this research was to evaluate the impact of the application of a brief online group program based on mindfulness on the cognitive functions, emotional and mindfulness variables of an adult community population.

Method

58 people participated, to whom a battery of neuropsychological and psychological tests were administered pre and post intervention. A 6-week training program in mindfulness skills was applied in order to evaluate its impact on emotional variables, as well as performance in episodic memory, attentional processes and executive functions.

Results

For most of the emotional variables, a statistically significant interaction effect was verified, observing in the experimental group an improvement in the variables anxiety and depression, state and trait well-being, in the post-test compared to the pre-test except in the perceived stress variable. where there were no changes after the intervention. In the cognitive functions of verbal episodic memory, sustained, selective and alternating attention, attentional span, cognitive flexibility, inhibitory control and information processing speed, no statistically significant interaction differences were observed after training.

Conclusion

The study results provide more evidence in favor of the benefits of programs based on mindfulness, online and brief modality, for the emotional well-being of the general population.