Acta neurologica Belgica最新文献

The Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare neuromuscular disorder characterized by proximal muscle weakness, hyporeflexia or areflexia, and dysautonomia. Ocular and bulbar symptoms may also occur, though respiratory failure is uncommon; we report the case of a 21-year-old woman diagnosed with LEMS, without evidence of a tumor, who was initially treated with symptomatic medication, immunoglobulin, and steroids, resulting in significant clinical improvement. However, she later developed psychotic symptoms, prompting the discontinuation of steroids. Brain MRI and antineuronal antibody tests were negative. Subsequently, her condition deteriorated, leading to respiratory distress that required urgent intubation, and prolonged dysphagia that necessitated the insertion of a gastrostomy tube for nutrition, along with the maintenance of a tracheostomy. Plasmapheresis was performed, resulting in partial motor recovery. Rituximab was then introduced, leading to sustained improvement in her neuromuscular symptoms, although her neuropsychiatric symptoms persisted; this case highlights a severe progression of young-onset LEMS, marked by prominent bulbar dysfunction and respiratory distress. Neuromuscular improvement followed rituximab treatment, while the concurrent psychotic symptoms appeared to follow an independent course, suggesting a primary psychiatric comorbidity.

Objective: Upper extremity dysfunction is frequently seen in Parkinson's disease (PD). Existing research has shown that bradykinesia, which is main symptom of PD, is primarily responsible but the combined effects of spinal posture and axial rigidity on upper extremity functions were not investigated yet. The aim of this study was to investigate upper extremity functions in patients with PD and to evaluate relationship of these with spinal posture and axial rigidity.

Methods: This prospective controlled study included 40 patients with PD and 40 healthy controls. Upper extremity function was measured with the 9-Hole Peg Test. Spinal posture and axial rigidity were measured with a Spinal Mouse.

Results: Compared with the control group, a decrease in upper extremity functions (p < 0.001), decreased lumbar lordosis (p = 0.003), and posterior sacral tilt (p = 0.021) were determined in patients' group. Thoracic and lumbar mobility in the sagittal (all p < 0.001) and frontal planes (p = 0.004, p < 0.001) was found to be reduced in the patient group. A correlation was determined between upper extremity functions and lumbar mobility in the sagittal (p = 0.022, r= -0.362) and frontal planes (p = 0.045, r= -0.319) and lumbar lordosis (p = 0.048, r = 0.302).

Conclusions: The results of this study demonstrated that altered spinal posture and increased axial rigidity were related with decreased upper extremity functions in patients with PD. There is a need for further studies to investigate effect of trunk-based therapies on upper extremity function in patients with PD.

Purpose: The North Star Ambulatory Assessment (NSAA) is a functional motor outcome measure originally developed for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to perform the cultural adaptation and investigate the validity and reliability of the Turkish version of the NSAA (T-NSAA) in DMD.

Methods: After translation process, internal consistency, interrater and test-retest reliability of the NSAA were determined by using the Cronbach Alpha Coefficient and Intraclass Correlation Coefficient (ICC), respectively. Absolute reliability was determined by using the Standard Error of Measurement (SEM) with minimal detectable change at 95% limits of confidence (MDC₉₅). Lower limb functionality of children was evaluated by Vignos Lower Extremity Scale (VLERS). To establish convergent validity, the correlations between T-NSAA and Motor Function Measure (MFM-32), 6-minute walk test (6-MWT), and VLERS were analyzed by using the Spearman's correlation coefficient.

Results: The study was completed with 86 patients with DMD whose age were mean 104.56 ± 24.66 months. The internal consistency (Cronbach's α = 0.94), intra-reliability (ICC = 0.977) and inter-reliability (ICC = 0.972) of T-NSAA were excellent. SEM and MDC values were low indicating satisfactory absolute agreement (< %10). The T-NSAA had strong correlations with the MFM-total score, 6-MWT, and VLERS (p < 0.01).

Conclusion: T-NSAA is a valid and reliable tool to assess ambulatory status of Turkish-speaking DMD population.

Clinical trial number: NCT05549999, Date of registration: September 19, 2022.

Objective: To evaluate the safety and efficacy of bridging intravenous thrombolysis plus mechanical thrombectomy (MT) versus direct MT in different age groups of patients with acute ischemic stroke (AIS) secondary to large vessel occlusion (LVO) of the anterior circulation.

Methods: Consecutive patients from the prospective endovascular stroke registry of the Comprehensive Stroke Center, University of Rome Tor Vergata, Italy, between January 2015 and June 2021 were retrospectively analyzed. Patients were divided into age groups (≤ 80 years old and > 80 years old); for each age group, they were further divided in the bridging therapy group and the direct MT group. We performed a propensity score analysis according to baseline characteristics. Safety outcomes were any intracerebral hemorrhage (ICH), symptomatic ICH (sICH) and 3-month mortality. Efficacy outcomes were successful recanalization (modified Thrombolysis in Cerebral Infarction, mTICI, score ≥ 2b) and 3-month functional independence (modified Rankin Scale, mRS, ≤ 2).

Results: We included 761 AIS patients with anterior circulation LVO (mean age 73.5 ± 12.8 years; 44.8% males; mean baseline NIHSS 16 ± 5). After propensity score, there were 365 patients ≤ 80 years old (52% bridging therapy) and 187 patients > 80 years old (57% bridging therapy). In both age groups of patients, we found no statistically significant differences in the rates of any ICH, sICH, successful recanalization and 3-month mortality and functional independence between bridging therapy and direct MT groups.

Conclusion: In our population, safety and efficacy outcomes of bridging therapy versus direct MT did not differ in both AIS patients ≤ 80 and > 80 years old.

Background and objective: Intramedullary mature teratomas in adults are rare tumors that pose significant diagnostic and therapeutic challenges due to their diverse tissue composition and intramedullary location. This review, which includes an illustrative case, aims to provide a comprehensive overview of the clinical presentation, diagnosis, treatment, and outcomes of adult intramedullary mature teratomas through a systematic review of 89 cases.

Methods: A systematic review was conducted following PRISMA guidelines, using keyword combinations in PubMed, MEDLINE, and Web of Science databases until June 2024. Inclusion criteria were adult patients (> 18 years) with histopathologically confirmed intramedullary mature teratomas. Statistical analyses examined relationships between the extent of resection (EoR), tumor location, and patient outcomes.

Results: Among the 89 cases, the mean age was 39.94 ± 13.52 years, with a male-to-female ratio of 1.39:1. Tumors were most commonly located in the conus region (51.2%). Surgical resection was the primary treatment, with 43 cases undergoing partial resection and 33 gross total resection. No statistically significant differences in outcomes were found between EoR, sex, associated anomalies, or specific outcomes. However, younger patients showed improved outcomes for lower limb weakness and sphincter dysfunction. Recurrence was noted in three cases, all located in the conus.

Conclusion: Intramedullary mature teratomas require a nuanced approach that balances complete resection and neurological preservation. Early diagnosis and individualized surgical planning are crucial for optimizing outcomes. Despite the challenges, effective management is achievable, and ongoing research is essential to refining treatment strategies for this rare tumor.

Purpose: Contrast enhancement (CE) after mechanical thrombectomy (MT) remains a subject of investigation, with a reported prevalence ranging from 31 to 88%. We examined our patients to identify predictors of CE and its impact on outcomes, an aspect that remains understudied.

Methods: We retrospectively analyzed 106 patients who underwent MT at our hospital between 2018 and 2022. The inclusion criteria involved patients who underwent two head CT scans: one immediately after the procedure and a repeat scan within 24 h. This study compared demographic, clinical, laboratory, neuroimaging, and procedure-related variables between patients with CE and those without hyperdensity. Regression analysis was employed to determine the associations between CEs and significant variables.

Results: Among the analyzed patients, 32.1% had CE. Hyperlipidemia was more prevalent in the CE group. CE correlated with an increase in the National Institutes of Health Stroke Scale (NIHSS) score ≥ 4 within 24 h, intracerebral hemorrhage (ICH) incidence, elevated NIHSS score, and a decreased rate of modified Rankin scale (mRS) 0-3 upon discharge. The adjusted model demonstrated a significant association between CE and the incidence of hyperlipidemia and ICH, with an increase in NIHSS score ≥ 4 within 24 h of ICH and a lower mRS score of 0-3 upon discharge.

Conclusions: CE is associated with hyperlipidemia, ICH, early neurological deterioration, and poor functional outcomes upon discharge. However, no similar association was shown for long-term outcomes. Further studies are required to clarify the pathophysiology of CE and its implications for optimizing stroke care.

Background: Primary Hemifacial Spasm (pHFS) is a disorder caused by compression of vessels on the root of the facial nerve. There has been conflicting evidence regarding the side of the face that is more frequently affected. Moreover, it has been found in several studies that women are afflicted by approximately twice as many as men.

Objectives: We reviewed the literature to explain HFS tendencies from an anatomical aspect. We wanted to see whether there are anatomical variations that can increase the risk of developing HFS or underlie its tendency to a specific gender and side of the face.

Methods and material: A PubMed search was done for the articles on "Hemifacial Spasm" published in English literature, and we selected the articles regarding the significant anatomical differences in HFS patients.

Results: AICA proximal branching pattern, highly originated PICA, VA dominancy, and VA deviation are among the predisposing anatomical variances. Overall, both sides of the face are equally affected in HFS. However, there are side preferences based on the causative vessels, which may be due to differences in the anatomical features of the left and right side vessels.

Conclusions: Various anatomical variations regarding posterior circulation can increase the risk of HFS. Recent evidence suggests whether there is no side dominance or a tendency exists toward the left side. There is no comprehensive explanation for precise reasons underlying the tendency of HFS to affect women. Evidence regarding anatomical variations of the posterior circulation comparing men and women with HFS is scarce, and further studies are required.