Acta neurologica Belgica最新文献

We report a 21-year-old man, born out of non-consanguineous parentage, who presented with motor predominant developmental delay, intellectual disability, poor scholastic performance, lethargy, easy fatigability, and gradually progressive proximal muscle weakness with striking muscle enlargement since childhood, mimicking muscular dystrophy. Examination revealed coarse facies, macroglossia, dry scaly skin, and symmetrical hypertrophy of limb and shoulder girdle muscles, producing a "Herculean" appearance. Neurological evaluation demonstrated pseudohypertrophy with percussion-induced transient mounding and delayed tendon reflex relaxation. Investigations confirmed severe hypothyroidism with markedly elevated muscle enzymes, while MRI showed diffuse muscle enlargement with myoedema but without fatty infiltration. These clinical and radiological findings established a diagnosis of Kocher-Debré-Semelaigne/Hoffmann's syndrome. Thyroxine replacement resulted in significant improvement. This case underscores hypothyroidism as a potential reversible endocrine myopathy that can masquerade as muscular dystrophy. Recognition of characteristic systemic, neurological, and imaging features prevents unnecessary invasive or genetic testing and highlights the importance of timely hormone replacement therapy.

Background: Cerebral ventriculitis is a severe intraventricular infection with mortality rates of 30-71% despite standard treatment with antibiotics and external ventricular drainage (EVD). Ventricular lavage (VL) has emerged as an adjunctive therapy, but its comparative effectiveness remains uncertain. We aimed to systematically compare outcomes between VL and conservative management in cerebral ventriculitis.

Methods: We conducted a PRISMA-compliant systematic review of PubMed/MEDLINE, Cochrane Library, and ClinicalTrials.gov through January 2025, including 10 studies (n = 322 patients).

Results: VL demonstrated significantly better outcomes across all measured parameters. Mortality was lower with VL (0-25%) versus conservative treatment (23.5-52.9%; p < 0.05 in comparative studies). Hospital stays were 22-50% shorter with VL (20.5-59 vs. 39.7-81 days). Neurological outcomes favored VL, with 66.7-68.8% achieving mRS ≤ 3 versus 23.5-25% in controls. CSF parameters normalized faster with VL (leukocytes: 4 vs. 12 days; protein: 12.9 vs. 27.2 days). VL reduced shunt dependency (56-91% vs. 100%) and infections (2 vs. 7 cases).

Conclusions: Ventricular lavage significantly improves survival, accelerates recovery, and reduces complications compared to conservative management. While current evidence is limited by study heterogeneity, the consistent positive outcomes support consideration of VL for cerebral ventriculitis. Larger randomized trials are needed to optimize protocols and confirm these benefits.

Background: Primary central nervous system lymphoma (PCNSL) is a rare and aggressive form of extranodal non-Hodgkin lymphoma, most often a diffuse large B-cell lymphoma. Rituximab, an anti-CD20 monoclonal antibody is widely used in PCNSL treatment but its efficacy remains uncertain. Therefore, we conducted a systematic review and meta-analysis to assess the efficacy of rituximab in newly diagnosed adult PCNSL patients.

Methods: Medline/PubMed and Scopus were searched for studies comparing rituximab/rituximab-containing regimens with therapies not including rituximab in adult PCNSL patients. A random-effects meta-analysis was conducted, and risk ratios (RR) and hazard ratios (HR) were reported with 95% confidence interval (CI). Outcomes included 3- and 5-year overall survival (OS), OS independent of time, 3- and 5-year progression-free survival (PFS), and complete response (CR).

Results: Sixteen studies (three RCTs, thirteen retrospective) with 2,325 patients (rituximab: 1010; control: 1315) were included. Rituximab-containing therapy was significantly associated with higher 3-year OS (RR: 1.37; 95% CI: 1.07-1.76), higher CR rate (RR: 1.37; 95% CI: 1.05-1.79) and reduced hazard of death (HR: 0.65; 95% CI: 0.43-0.98). 3-year PFS showed a non-significant trend favoring rituximab (RR: 1.29; 95% CI: 0.99-1.68) which reached statistical significance in sensitivity analysis after excluding one study (RR: 1.40; 95% CI: 1.12-1.77). No statistically significant differences were observed for 5-year OS (RR: 1.33; 95% CI: 0.99-1.78) or 5-year PFS (RR: 1.24; 95% CI: 0.79-1.94) between the two groups.

Conclusion: Our findings indicate that rituximab-containing therapy was associated with improved short-term outcomes in newly diagnosed adult PCNSL. However, long-term advantages remain uncertain. Therefore, there is a need for larger randomized trials with standardized outcome and toxicity reporting and extended follow-up to confirm long-term survival benefit.

Background: Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) syndrome is a rare, potentially life-threatening hypersensitivity reaction to medications. While commonly associated with hepatic, renal, and pulmonary involvement, central nervous system complications such as cerebral vasculitis are exceedingly rare and not well characterized.

Case presentation: We present the case of a 69-year-old woman with a history of hypertension who developed DRESS syndrome following a 2.5-week course of piperacillin/tazobactam for an infected malleolar wound. She presented with fever, generalized malaise, nausea, anorexia, and a diffuse maculopapular rash. Laboratory findings revealed marked eosinophilia, leukocytosis, and elevated liver enzymes. A skin biopsy was consistent with toxicodermia. Based on clinical and laboratory criteria, a diagnosis of probable DRESS syndrome was made (RegiSCAR score: 8). High-dose intravenous corticosteroids were initiated. During hospitalization, the patient developed new-onset neurological deficits, including hemiplegia and bilateral paresis. Brain MRI revealed multifocal ischemic lesions with diffusion restriction in both cerebral and cerebellar hemispheres. Extensive diagnostic work-up, including echocardiography, vascular imaging, lumbar puncture, PET-CT, and autoimmune panels, excluded infectious, embolic, and systemic vasculitis etiologies. In the context of DRESS, cerebral vasculitis was suspected. Corticosteroid therapy was escalated to intravenous methylprednisolone, followed by a slow taper. Subsequent MRI showed regression of the lesions, and the patient made significant neurological recovery.

Conclusion: This case illustrates a rare but severe neurological complication of DRESS syndrome-cerebral vasculitis-triggered by piperacillin/tazobactam. It highlights the importance of early recognition of atypical organ involvement in DRESS and the need for comprehensive neurological evaluation when new deficits emerge. Timely escalation of immunosuppressive therapy may improve outcomes in such cases.

Facial onset sensory and motor neuronopathy (FOSMN) is a rare neurological disorder that combines features of both sensory neuropathy and motor neuron disease. Its clinical resemblance to trigeminal neuralgia and amyotrophic lateral sclerosis (ALS) often leads to delayed or incorrect diagnosis. Recent evidence suggests that FOSMN may represent a sensory-onset variant within the ALS spectrum, characterised by the addition of cranial and limb sensory involvement. The present report highlights this diagnostic challenge and emphasises that FOSMN can occur with prominent sensory symptoms and cranial nerve dysfunction even in the absence of significant bulbar features. Recognising this pattern broadens the classical understanding of motor neuron diseases, which are traditionally viewed as purely motor disorders. Awareness of such presentations and the use of targeted neurophysiological tests, particularly blink reflex studies, are essential for accurate diagnosis and better characterisation of this rare and evolving disease spectrum.

Background: Cerebral microbleeds (CMBs) are highly prevalent in patients with Parkinson's disease (PD), but their impact on clinical symptom severity and genetic association remains unclear. This study investigates the relationship between CMBs and PD severity.

Methods: We recruited patients with PD from the outpatient clinic and inpatient wards of the First Affiliated Hospital of Chongqing Medical University. All participants had undergone susceptibility-weighted imaging (SWI) and had complete clinical assessments. Participants were categorized into groups based on their CMB count. We subsequently analyzed the risk factors for CMBs and examined the correlations between CMB burden and motor, cognitive, and emotional function, respectively. Furthermore, utilizing a genome-wide association study (GWAS) dataset, we investigated the association between genetic susceptibility to CMBs and PD severity preliminarily by Mendelian randomization (MR).

Results: Among 158 patients with PD, 53 (33.5%) were found to have CMBs. Age, disease duration, and hypertension were independently associated with the presence of CMBs (p < 0.05). Multiple linear regression analysis indicated that a higher CMB burden was associated with poorer motor function and the presence of anxiety disorders. To gain deeper insight into the relationship between CMB and severity of PD, MR analysis further suggested that genetic susceptibility to CMBs is potentially causally linked to worse motor function (OR = 1.301, p = 0.047), lower scores on the Montreal Cognitive Assessment (MoCA) (OR = 0.207, p = 0.021) and the Mini-Mental State Examination (MMSE) (OR = 4.915, p = 1.63E-08), as well as an increased risk of dementia in PD (OR = 4.915, p = 1.63E-08).

Conclusion: The high prevalence of CMBs was associated with age, disease duration, and hypertension. Furthermore, our MR analysis provides preliminary evidence that a higher CMB burden may exacerbate the severity of Parkinson's disease.

Background: The brainstem is a vital component of the cerebro-cerebellar network underlying cognition, however it remains unclear whether brainstem volumes are associated with cognitive functioning in MS.

Objective: Investigate the relationship between brainstem volumes and cognitive impairment in MS, as assessed by the BICAMS battery (processing speed, verbal and visuospatial memory).

Methods: We analyzed data from the VOLUMS (Volumetry in MS) study, including 143 MS patients. Magnetic resonance imaging (1.5/3.0 T, 3DT1-weighted images) was used for brain volumetrics and brainstem lesion counts. Cognitive data were collected using the "Brief International Assessment of Cognition for Multiple Sclerosis" (BICAMS). Correlation and stepwise logistic regression explored associations between brain volumes and cognitive performance. In a subset of 35 patients with 3-year follow-up, longitudinal changes in brain volumes and cognition were also assessed.

Results: Cognitive impairment (≥ 2 standard deviations below predicted scores on at least one test) was present in 30.1% of participants. No significant correlations were found between brainstem volume and cognitive scores. Hippocampus (p = .046), thalamus (p = .024), cortex (p < .001), and gray matter (p < .001) volumes were significantly lower in cognitively impaired patients. Processing speed correlated with cortex (R = .217, p = .009) and GM (R = .206, p = .013), while verbal memory correlated with hippocampus (R = .218, p = .009), cortex (R = .251, p = .003) and GM (R = .275, p = .001) volumes. Disease duration was the only significant predictor of cognitive impairment (p < .001). In the longitudinal subset, no clear evidence of progressive volumetric decline or related cognitive deterioration was observed.

Conclusion: While no link was found between brainstem volumes and cognitive impairment, this analysis underscores the importance of considering various brain structures in understanding cognitive impairment in MS.

Background and aim: Neuromuscular diseases (NMDs) are a heterogeneous group of diseases including motor neurone diseases (MND), muscle diseases (MD), neuropathies and neuromuscular junction diseases (NMJD). NMDs are characterized by a wide range of symptoms and findings, depending on different underlying issues. Therefore, the literature includes specific management and/or rehabilitation recommendations for each subgroup and even for some diseases within these subgroups. Currently, neither in our country nor globally is there a comprehensive recommendation study that thoroughly addresses all aspects of NMD rehabilitation developed by experienced and specialized multidisciplinary experts in the field.

Materials and methods: The recommendations in this paper have been created by a multidisciplinary team for all patients without age limitation under the headings of peripheral neuropathy/polyneuropathy, MND, MD and NMJD using the seven-step and 3 round modified Delphi method via e-mail. The strength of agreements (SOA) was calculated for each item (recommendation) using percentages (response of between 8 and 10%), median values, and interquartile range with Kappa method.

Results: The opinions of the experts were analysed according to the 3-round modified Delphi method, and a list of 110 items of recommendations for patients with NMDs of all ages was prepared in as much detail as possible to shed light on almost all questions and problems that may be encountered in clinical practice. There were 5 recommendations in the general management subsection, 20 recommendations in the rehabilitation indications subsection, 8 recommendations in the rehabilitation contraindications section, and 77 recommendations in the rehabilitation section (general principles 7 recommendations, modalities 13 recommendations, exercise characteristics 57 recommendations).

Conclusion: We think that this study will be a light for physicians dealing with this patient group in clinical practice, as it includes fine details up to exercise prescriptions.