Neurologia i neurochirurgia polska最新文献

Introduction: To evaluate the long-term follow-up in patients with multiple sclerosis (MS) with positive John Cunningham virus (JCV) index treated with natalizumab.

Clinical rationale for the study: The prognosis in MS patients with positive JCV index in short-term follow-up is frequently analyzed; however, it is still not clear what the long-term outcomes in these patients are.

Material and methods: We performed retrospective chart review in MS patients with positive JCV index treated with natalizumab in the Department of Neurology, Medical University of Warsaw. According to the progressive multifocal leukoencephalopathy (PML) risk stratification algorithm established for MS patients treated with natalizumab, we have divided the patients included in our study into the following subgroups according to the JCV index results: JCV Index < 0.9, 0.9-1.5, > 1.5.

Results: We have included 42 patients in our study, 28 females (67%), aged 42.9 ± 9.6 years, with mean disease duration of 13 ±7.07 years and median time of natalizumab therapy of 35 months. The most frequent indication for natalizumab use was lack of efficacy of disease-modifying drug (DMD) previously used (n = 29, 69%). The median extended disability status scale (EDSS) at the moment of last evaluation was 3.0 (range 0.0-8.5). In 14 patients (33.3%), the extended-interval dosing (EID) algorithm was implemented, while frequent brain magnetic resonance imaging (MRI) was done in 15 cases (36%). In one case, natalizumab-related serious adverse event (SAE) occurred, which was PML, but the patient survived and improved with time. When it comes to the number of patients belonging to each of the JCV subgroups, 18 (43%) were in the group with JCV index of < 0.9, 8 had intermediate JCV index (19%) and 16 (38%) had the JCV index > 1.5. There were no statistically significant differences concerning demographic data between the group with the lowest and moderate JCV index, only patients with the highest JCV index (> 1.5), were characterized by the highest disease duration (p = 0.0072). The EID algorithm was used in these cases significantly more frequently (p = 0.0023) than in the group with the lowest JCV index. Also, frequent MRI was performed significantly more often in this group (p = 0.0085). In the first group (JCV < 0.9), average variation of JCV index was between 0.17 and 0.34, in the second group (JCV 0.9-1.5) - between 1.03 to 1.54, and in the third group - between 2.6-2.8.

Conclusions: Based on our data, it can be concluded that long-term therapy with natalizumab seems to be safe, even in patients with positive JCV index.

Clinical implications: Natalizumab can be used for long-term treatment of patients with MS even with positive JCV index if recommended precautions such as EID and frequent brain MRIs are followed.

Introduction: Malignancies may coexist in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), possibly indicating shared immune mechanisms or risk factors. This study aimed to assess the frequency of cancer in patients with CIDP and the clinical characteristics of CIDP subgroups with and without cancer.

Material and methods: The study included 61 patients with CIDP (mean age 61.6 ± 11.8 years). Cancer was diagnosed after CIDP in 14 cases (23%). Diagnostic parameters: clinical, biochemical and electrophysiological, and their correlations were analyzed in patients with and without cancer.

Results: At chronic inflammatory demyelinating polyradiculoneuropathy diagnosis, the mean inflammatory neuropathy cause and treatment (INCAT) score was 2.29 ± 1.68 in the cancer group and 2.21 ± 1.81 in the non-cancer group (p = 0.891). At cancer diagnosis, the scores were 2.79 ± 1.81 vs. 2.40 ± 1.73, respectively (p = 0.489). Immunoglobulin levels were more variable in cancer patients, especially immunoglobulin M (IgM), although the differences were not significant. Cerebrospinal fluid (CSF) protein levels averaged 102.04 mg/dL in cancer patients and 92.67 mg/dL in those without cancer. In CIDP patients with cancer, a strong negative correlation was found between peroneal nerve motor latency and the INCAT score (r = -0.58). In those without cancer, CSF protein levels positively correlated with compound muscle action potentials (CMAP) latency and negatively with conduction velocity in both the ulnar and peroneal nerves.

Conclusions: While not statistically significant, trends indicate that malignancy in CIDP may be linked to a more aggressive disease course, distinct immune profiles, and alternative pathogenic mechanisms, warranting further investigation into targeted therapies.

No abstract is required in Letter to the Editors.

Serotonin syndrome (SS) is a potentially life-threatening condition resulting from excessive serotonergic activity often triggered by overdoses, drug interactions or inadequate polypharmacy. Serotonin syndrome is often underdiagnosed, and its documented prevalence worldwide is limited, however due to the growing global prescription of antidepressant agents for conditions ranging from psychiatric disorders to chronic pain and sleep disorders, the number of incidences is increasing. Serotonin syndrome presents with a wide spectrum of clinical manifestations, from mild agitation and hyperreflexia to severe hyperthermia, rigidity, and multi-organ failure. Its pathophysiology primarily involves 5-HT1A and 5-HT2A receptors, although other mechanisms may contribute. Current diagnostic frameworks, such as Hunter's criteria, provide guidance but have limitations, especially in cases of polypharmacy. Management strategies focus on early recognition, discontinuation of serotonergic agents, supportive care, and targeted treatments such as cyproheptadine, although its efficacy requires further study. Severe cases necessitate urgent interventions to control hyperthermia and prevent complications like rhabdomyolysis. This review highlights the clinical relevance of SS, its challenges in diagnosis and management, and the urgent need for increased awareness among healthcare providers. Future directions should aim to refine diagnostic criteria, explore novel therapeutic options, implementing preventive strategies and investigate the broader role of serotonin dysregulation in clinical practice to reduce morbidity and mortality associated with this condition.

Rare diseases (RDs) are a heterogeneous group of disorders defined by their low prevalence - affecting fewer than 1 in 2,000 individuals in Europe and fewer than 200,000 people in the US. Although individually uncommon, rare diseases collectively impact an estimated 263 to 446 million people worldwide. Early recognition and diagnosis remain major challenges, particularly in neurology, where overlapping phenotypes and limited awareness often delay appropriate management. We present 3 illustrative case studies highlighting the diagnostic and therapeutic complexities associated with rare neurologic disorders. The first case describes a patient with CSF1R-related disorder; diagnosis was significantly delayed due to initial misattribution of symptoms to traumatic brain injury. This delay ultimately precluded timely intervention with disease-modifying therapies such as hematopoietic stem cell transplantation. The second case involves a patient with frontotemporal dementia and parkinsonism linked to chromosome 17 with a pathogenic c.837T>G, p.N279K variant in the MAPT gene, also known as pallidopontonigral degeneration. Although a strong family history facilitated early diagnosis, the case underscores the broader challenges of managing hereditary neurodegenerative diseases within affected families. The third case presents an exceptionally rare scenario of dual pathogenic mutations in ATXN3 and ATXN8OS, resulting in concurrent diagnoses of spinocerebellar ataxia types 3 and 8. This case exemplifies the clinical ambiguity and interpretive difficulty posed by co-occurring rare variants with overlapping symptomatology. Collectively, these 3 cases emphasize the importance of accurate, timely diagnosis to avoid unnecessary testing in rare neurologic diseases. Timely recognition enables access to emerging personalized therapies and support systems.

Introduction: Exposure to heavy metals has long been considered a potential risk factor for neurodegenerative diseases.

State of the art: Most existing studies include in vitro and animal models, and research involving human subjects has yielded conflicting results, obscuring the overall understanding of this topic.

Aims of the study: In this article, the aim is to clarify the situation by carefully reviewing and categorizing the available body of knowledge in this field. Specifically, the focus is on research that explores the relationship between mercury exposure and common neurodegenerative diseases.

Conclusions: Despite its neurotoxic properties, results show that mercury is not associated with frequent neurodegenerative disorders.

Aim of the study: To assess safety and feasibility of intrathecal chemotherapy (IC) and disease monitoring via Ommaya reservoir (OR) in routine clinical practice in patients with leptomeningeal disease (LMD).

Clinical rationale of the study: Leptomeningeal disease carries poor prognosis with an average survival of 3-6 months after diagnosis. OR are an accessible alternative to serial lumbar punctures for delivery of IC and disease monitoring in these patients but are not widely used, partially due to safety concerns.

Material and methods: This single-center retrospective cohort study enrolled patients who received at least one administration of IC via OR for LMD between 2017 and 2022 at a tertiary academic center. Demographics, primary malignancy, treatment type, complications, adverse events and outcomes were recorded for each enrolled patient.

Results: We identified 22 patients (17 females, 5 males) with mean age 50.9 ± 14.8 years. The primary cancers were breast (12), leukemia (3), ovarian carcinoma (3), CNS lymphoma (1), urothelial carcinoma (1), spinal melanocytoma (1), and high-grade glioma (1). A total of 208 IC injections via OR were performed [median 9 OR injections per patient (interquartile range (IQR) 5-13)]. Five patients (23%) experienced mild adverse events of grade 2 or lower by Common Terminology Criteria for Adverse Events. The overall risk of adverse events from injections was 3.4% (7/208). Eight patients (36.3%) converted into negative CSF cytology and 18 patients (82%) had clinical and/or radiological progression of their LMD (median 2 months following first injection). Eleven patients (50%) died of their LMD during follow-up. Median OS and PFS from the first injection were 5.3 months [95% CI: 4.8-NE (not estimable)] and 4.3 months [95% CI: 1.8-16.0], respectively.

Conclusions and clinical implications: Our single-center cohort study suggests that the use of intrathecal chemotherapy via Ommaya reservoir in routine clinical practice is a safe and feasible option and should be considered for treatment and frequent disease monitoring in eligible patients with leptomeningeal disease. Neurologists, especially neuro-oncologists, can significantly contribute to the care of patients of leptomeningeal disease via administering intrathecal chemotherapy.

Aim of the study: To analyze the patient population diagnosed with transient global amnesia (TGA) concerning their demographic structure, clinical data and results of additional tests performed.

Clinical rationale for the study: Transient global amnesia is a neurological disorder characterized by the sudden onset of temporary memory disturbances, resolving within 24 hours and not accompanied by other focal neurologic symptoms. The pathomechanism of TGA remains unknown. The prognosis is very favorable. Laboratory tests, electroencephalograms or radiologic imaging scans are typically normal. They are usually necessary to exclude alternative diagnoses.

Material and methods: The study was a retrospective analysis of 18795 patients hospitalized in the Clinical Provincial Hospital from 1 January 2017 to 30 April 2024. Patients with TGA were identified by searching digital data according to the ICD-10 classification. Each patient met Caplan's criteria (in Walrow and Hodges approach). The analysis considered demographic characteristics: age, gender, comorbidities, preceding factors, the time of illness onset, the results of additional tests [magnetic resonance imaging (MRI) and electroencephalogram (EEG)] and their timing.

Results: The study group included 113 patients. Hypertension and lipid disorders were most frequently noted comorbidities. Most common preceding factors were systolic blood pressure above 160 mmHg, (38%), sudden stress-inducing event (13.3%), severe pain (12.4%), physical activity (8.9%). Transient global amnesia episodes occurred most frequently during daytime, between 11 a.m. and 5 p.m. (61 patients, 54%) and 2 patients (1.77%) developed symptoms during nighttime. Magnetic resonance imaging was performed in 83 patients (73.45%). On MRI diffusion weighted imaging (DWI), hippocampal hyperintense areas were found in 15 patients (18.07%). Physical activity and atrial fibrillation were significantly higher in patients with DWI lesions. Electroencephalogram was performed in 102 patients (90.27%). Forty-seven (42%) of them showed abundant and dominant beta rhythm. Approximately one third (n = 39) had no EEG abnormalities. Epileptiform discharges were detected in two cases (1.77%). Abnormal EEG records were significantly higher in patients with present DWI lesions.

Conclusions and clinical implications: Transient global amnesia episodes often occur during daily activity, and the main preceding event was an increase in systolic blood pressure above 160 mmHg. Magnetic resonance imaging and EEG tests support the diagnosis. The sensitivity of MRI is higher when performed between 24-96 hours after symptom onset.