Susac syndrome is a rare autoimmune microangiopathy that poses a diagnostic and therapeutic challenge. It is characterised by a clinical triad of symptoms including encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. The case concerns a 32-year-old female patient presenting with encephalopathy, balance disorders, visual disturbances, and subsequently also hearing loss. Magnetic resonance imaging revealed multiple hyperintense lesions within the corpus callosum, cerebellum, posterior fossa, as well as the grey and white matter of both hemispheres, typical of encephalopathy in the course of this disorder; further diagnostics confirmed the above-mentioned clinical triad. Long-term treatment with intravenous steroids and immunoglobulins proved ineffective, and clinical stabilisation was achieved following rituximab therapy. The case highlights the importance of accurate diagnosis and early initiation of immunosuppressive treatment.
Nusinersen is a disease-modifying therapy used in the treatment of spinal muscular atrophy. It is an antisense oligonucleotide designed to bind to the intronic splicing silencer in intron 7 (ISS-N1) of the SMN2 gene. By blocking ISS-N1, the drug promotes the inclusion of exon 7 in the transcript, which restores the correct mRNA reading frame and enables the production of functional SMN protein. Although nusinersen has demonstrated clinically meaningful efficacy and a favourable safety profile in individuals with 5q-associated spinal muscular atrophy, evidence regarding its use during pregnancy remains very limited, as pregnant patients were excluded from clinical trials. A PubMed search identified only three reported pregnancies in women treated with nusinersen worldwide. Analysis of these cases suggests that the timing of treatment during pregnancy may influence maternal motor outcomes. Early discontinuation of therapy was associated with motor decline or a mild decrease in functional status, whereas continuation of therapy during the third trimester was linked to substantial postpartum improvement in motor function. Pregnancy courses varied and included complications such as hypertension and HELLP syndrome, with both vaginal and caesarean deliveries reported. Despite these differences, neonatal outcomes were favourable in all cases, with healthy infants and normal early development. Management of pregnant women with spinal muscular atrophy should be individualised and provided by a multidisciplinary team including neurologists, obstetricians, anaesthesiologists, and rehabilitation specialists. Therapeutic strategies should take into account maternal neurological stability, procedural considerations, and neonatal safety. Given the limited number of cases, further research and systematic analysis of the data are needed to develop practical evidence-based recommendations regarding nusinersen therapy during pregnancy.
Objective: This review synthesises the literature on paediatric anti-NMDAR encephalitis, focusing on the overlap between psychiatric and neurological symptoms and the impact of delayed diagnosis and treatment on cognitive recovery. Methods: A narrative review (2020 – April 2026) of the PubMed and Google Scholar databases was conducted, focusing on paediatric populations, treatment timing, and cognitive outcomes. Main results: In paediatric cohorts, psychiatric symptoms appear at disease onset in 80% of cases, though purely psychiatric presentations are rare. Because the disease mimics primary psychosis, 40% of patients are initially admitted to psychiatric wards, resulting in significant delays. Misdiagnosis poses a risk of life-threatening neuroleptic malignant syndrome in 12% of patients receiving antipsychotic medication. Initiation of immunotherapy within four weeks is a major modifiable factor associated with successful functional recovery (modified Rankin Scale, mRS 0–2). Delays exceeding 30 days are linked to a higher risk of persistent cognitive impairments, including memory and executive dysfunction, although prognosis is inherently multifactorial and influenced by disease severity and age. Long-term trajectories show complete remission in 73% of patients, isolated deficits in 18%, and multidomain impairment in 9%. Onset before the age of six is a critical vulnerability; 35% of these children remain dependent on social and family support a decade post-diagnosis. Conclusion: Paediatric anti-NMDAR encephalitis blurs the boundaries between neurology and psychiatry. Clinicians should actively identify neurological “red flags” to prevent misdiagnosis. Prompt multidisciplinary care and initiation of immunotherapy within four weeks help minimise cognitive deficits, prevent long-term dependency, and support restoration of the child’s normal neurodevelopmental trajectory, although final outcomes depend on clinical, radiological, and demographic factors.
Objective: Cognitive impairment is a common consequence of stroke, adversely affecting independence, communication, return to work, social participation, and quality of life. This systematic review synthesised the available evidence on the effectiveness of errorless learning in the rehabilitation of stroke survivors with cognitive impairment. Errorless learning is a rehabilitation approach designed to minimise errors during therapeutic tasks, thereby supporting the learning process in individuals with cognitive deficits. Methods: A systematic review was conducted in accordance with the PRISMA 2020 guidelines. PubMed, Embase, and Scopus were searched for English-language studies published between 1 January 2000 and 31 December 2025. The search was updated on 1 June 2026 using the same databases and strategy. Studies involving adult post-stroke patients receiving errorless learning as the primary intervention were included. Two independent reviewers screened all records using the Rayyan tool. Results: Six studies involving 146 participants (66 females and 80 males) met the inclusion criteria. Stroke-related characteristics were inconsistently reported across the included studies. Stroke subtype and acute treatment (e.g. thrombolysis or thrombectomy) were generally not reported, whereas lesion location and time since stroke were documented in only some of the studies. The included populations also varied substantially in terms of stroke phase, ranging from acute to chronic stroke. Rehabilitation was conducted in specialised hospitals in 40% of studies, whereas the intervention setting was not reported in 50%. Errorless learning demonstrated task-specific benefits, improving performance in balance tasks, reducing memory failures, and decreasing errors during tea-making and sock-donning tasks. However, no significant improvements were observed in dressing tasks, wheelchair preparation, or word retrieval compared with errorful learning. Conclusion: Errorless learning appears beneficial for selected aspects of post-stroke cognitive rehabilitation, particularly for tasks requiring minimal explicit memory. However, its effectiveness depends on task complexity and patient characteristics. Further high-quality studies are needed to establish the broader clinical applicability of errorless learning and to support the development of evidence-based rehabilitation guidelines.
Multiple sclerosis is a chronic autoimmune disorder characterised by inflammation, demyelination, and progressive neurodegeneration within the central nervous system. In recent years, increasing attention has been directed towards the potential role of the gut microbiota in the pathogenesis of multiple sclerosis. Intestinal microorganisms interact with the immune system and may influence neuroinflammatory processes through the gut–brain axis. Growing evidence suggests that disturbances in gut microbial composition may contribute to the immune dysregulation observed in patients with multiple sclerosis. The aim of this narrative review is to summarise current knowledge regarding alterations in gut microbiota composition in individuals with multiple sclerosis, as well as to discuss the immunological mechanisms linking intestinal microorganisms with disease development. A comprehensive literature search was performed using the PubMed, Scopus, and Web of Science databases. Studies addressing gut microbiota, immune mechanisms, and microbiota-targeted therapeutic strategies in multiple sclerosis were analysed and synthesised. Available evidence indicates that patients with multiple sclerosis often present alterations in gut microbial composition, including reduced abundance of beneficial commensal bacteria and increased representation of pro-inflammatory taxa. These changes may influence immune responses through mechanisms involving T-cell differentiation, cytokine signalling, and microbial metabolite production. Experimental and clinical studies also suggest that microbiota-targeted interventions, such as probiotic supplementation or modulation of microbial metabolites, including short-chain fatty acids, may affect inflammatory pathways involved in multiple sclerosis. Although current clinical evidence remains limited, a growing body of research indicates that modulation of the gut microbiota may represent a promising complementary strategy in the management of multiple sclerosis.
