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Objective: To study impact of COVID-19 pandemic on frequency, clinical/electrophysiological profile and treatment outcomes in pediatric Guillain-Barré syndrome (GBS). Background: GBS is the most frequent cause of pediatric acute flaccid paralysis. The effect of the COVID-19 pandemic on pediatric GBS is unclear in the literature. Methods: We conducted an ambispective, multicentric, cohort study involving 12 of 27 centres in GBS Consortium, during two periods: pre-COVID-19 (March-August 2019) and during COVID-19 (March-August 2020). Children <12 years who satisfied National Institute of Neurological Diseases and Stroke criteria for GBS/variants were enrolled. Details pertaining to clinical/laboratory parameters, treatment and outcomes (modified Rankin Scale (mRS) at discharge, GBS Disability score at discharge and 3 months) were analysed. Results: We enrolled 33 children in 2019 and 10 in 2020. Children in 2020 were older (median 10.4 [interquartile range 6.75-11.25] years versus 5 (2.5-8.4) years; P = 0.022) and had more sensory symptoms (50% versus 18.2%; P = 0.043). The 2020 group had relatively favourable mRS at discharge (median 1 (1-3.5) versus 3 (2-4); P = 0.042) and GBS disability score at 3 months (median 0 (0-0.75) versus 2 (0-3); P = 0.009) compared to 2019. Multivariate analysis revealed bowel involvement (P = 0.000) and ventilatory support (P = 0.001) as independent predictors of disability. No child in 2020 had preceding/concurrent SARS-CoV2 infection. Conclusions: The COVID-19 pandemic led to a marked decline in pediatric GBS presenting to hospitals. Antecedent illnesses, clinical and electrophysiological profile of GBS remained largely unchanged from the pre-pandemic era. [ABSTRACT FROM AUTHOR]

A case study of a 34‑year‑old man presented with subacute onset bilateral visual blurring of 3 weeks duration. Topics include case of Superficial siderosis (SS) caused by a spinal myxopapillary ependymoma presenting with visual impairment mimicking idiopathic intracranial hypertension (IIH); and Digital subtraction angiography ruled out vascular malformations except for hypoplastic right transverse and sigmoid sinuses.

Abstract: Nearly 10%-15% patients with generalized myasthenia gravis (MG) have refractory disease and are candidates for newer nonconventional immunotherapies. Rituximab has emerged as an attractive option in them. We describe the efficacy and safety of rituximab in 12 patients with refractory MG treated over a period of 4 years in a tertiary care center. We had a female-predominant cohort (10 females) in the age range 10-67 years. There were eight seropositive patients (acetylcholine receptor, muscle-specific kinase, or both antibodies) and eight had undergone thymectomy. Median number of crises was 2 before treatment with rituximab. Sustained improvement at 12 months was seen in seven patients and steroid dose could be reduced in them. Four worsened on therapy (including one death following prolonged ventilation and septicemia). One patient who had no response to therapy was re-evaluated and diagnosed with congenital myasthenic syndrome related to biallelic CHRNE mutation. In summary, nearly two-thirds (7/11, 63.6%) of autoimmune refractory MG in this cohort showed a good response to rituximab., (Copyright © 2024 Annals of Indian Academy of Neurology.)

Background: Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype-phenotype correlations., Methods: Descriptive retrospective international study collecting clinical and genetic data of patients with mutations in the VCP gene., Results: Two hundred and fifty-five patients (70.0% males) were included in the study. Mean age was 56.8±9.6 years and mean age of onset 45.6±9.3 years. Mean diagnostic delay was 7.7±6 years. Symmetric lower limb weakness was reported in 50% at onset progressing to generalised muscle weakness. Other common symptoms were ventilatory insufficiency 40.3%, PDB 28.2%, dysautonomia 21.4% and FTD 14.3%. Fifty-seven genetic variants were identified, 18 of these no previously reported. c.464G>A (p.Arg155His) was the most frequent variant, identified in the 28%. Full time wheelchair users accounted for 19.1% with a median time from disease onset to been wheelchair user of 8.5 years. Variant c.463C>T (p.Arg155Cys) showed an earlier onset (37.8±7.6 year) and a higher frequency of axial and upper limb weakness, scapular winging and cognitive impairment. Forced vital capacity (FVC) below 50% was as risk factor for being full-time wheelchair user, while FVC <70% and being a full-time wheelchair user were associated with death., Conclusion: This study expands the knowledge on the phenotypic presentation, natural history, genotype-phenotype correlations and risk factors for disease progression of VCP disease and is useful to improve the care provided to patient with this complex disease., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)