Long-Term Remission With Low-Dose Rituximab in Myasthenia Gravis: A Retrospective Study.

OBJETIVE: Rituximab (RTX) is a therapeutic option, for patients with myasthenia gravis (MG) not responding to conventional immunosuppressive treatment. In this cohort, we evaluated long-term efficacy of RTX in the treatment of refractory generalized MG. METHODS: A retrospective study was performed in adult patients with refractory generalized MG and at least 24 months of follow-up, between January/2015 and October/2021. The Myasthenia Gravis Status and Treatment Intensity Score was used to assess outcomes, and CD19/CD20+ B-cell counts were monitored. RESULTS: Sixteen patients with MG (8 antiacetylcholine receptor+ and 8 muscle-specific antikinase+; mean age 45.5 ± 16.2 years) treated with low-dose RTX protocols were included. CD19/CD20 levels remained undetectable 12 months after induction, and no new relapses were observed during follow-up. CONCLUSIONS: Low-dose RTX infusions were sufficient to achieve undetectable CD19/20 cell counts and sustained clinical remission. In low and middle-income countries, the impact of low-dose RTX therapy represents a paradigm shift in decision-making for long-term treatment.

Treatment-related fluctuations in Guillain-Barré syndrome​: clinical features and predictors of recurrence / Fluctuaciones relacionadas al tratamiento en el Síndrome de Guillain-Barré: características clínicas y predictores de recurrencia

ABSTRACT Background: A treatment-related fluctuation (TRF) in a patient with Guillain-Barré syndrome (GBS) is defined as clinical deterioration within two months of symptom onset following previous stabilization or improvements with treatment. Objective: To investigate the clinical characteristics and factors that could increase the risk of relapse of GBS in patients with and without TRFs. Methods: Retrospective review of medical records of patients (>18 years) with GBS evaluated between January/2006 and July/2019. Demographic and clinical characteristics, ancillary studies, treatment received, and the clinical course of patients with and without TRFs were analyzed. Results: Overall, 124 cases of GBS were included; seven (5.6%) presented TRFs. GBS-TRF cases were triggered more frequently by infectious mononucleosis (28.57 vs. 8.55%; p=0.01). GBS-TRF were initially treated with plasmapheresis more frequently than those without TRF (14.29 vs. 1.70%; p=0.0349). Combined treatment (71.43 vs. 4.27%; p<0.001) and corticosteroids (42.86 vs. 1.71%; p<0.001) were more commonly used in the GBS-TRF group. GBS-TRF patients presented a higher median initial disability score (4 vs. 2; p=0.01). Conclusions: Patients with GBS triggered by infectious mononucleosis and a high degree of initial disability have higher chances of developing TRFs. Although patients with TRF were treated with plasmapheresis more often, the total number was too low to suggest a link between plasma exchange and TRF.

RESUMEN Antecedentes: Una fluctuación relacionada al tratamiento (FRT) en un paciente con síndrome de Guillain-Barré (SGB) se define como un deterioro clínico dentro de los dos meses posteriores al inicio de los síntomas después de una estabilización previa o mejoría con el tratamiento. Objetivo: Investigar las características clínicas y los factores que podrían incrementar el riesgo de recaída, comparando pacientes con SGB, con y sin FRT. Métodos: Revisión retrospectiva de historias clínicas de pacientes (>18 años) con SGB evaluados entre enero/2006 y julio/2019. Se analizaron las características demográficas y clínicas, los estudios complementarios, el tratamiento recibido y la evolución clínica de los pacientes con y sin FRT. Resultados: Se incluyeron 124 casos de SGB en el total; 7 (5,6%) presentaron FRT. Los casos de SGB con FRT se desencadenaron con mayor frecuencia por mononucleosis infecciosa (28,57 vs. 8,55%; p=0,01). Los casos de SGB con FRT se trataron inicialmente con plasmaféresis con más frecuencia que aquellos sin FRT (14,29 vs. 1,70%; p=0,0349). El tratamiento combinado (71,43 vs. 4,27%; p<0,001) y los corticosteroides (42,86 vs. 1,71%; p<0,001) se utilizaron con mayor frecuencia en el grupo de SGB con FRT. Los pacientes con FRT presentaron una escala de discapacidad inicial mediana más alta (4 vs. 2; p=0,01). Conclusiones: Aquellos SGB desencadenados por mononucleosis infecciosa y un alto grado de discapacidad inicial tienen una mayor probabilidad de desarrollar FRT. Aunque los pacientes con FRT fueron tratados con plasmaféresis con mayor frecuencia, el número total fue demasiado bajo para sugerir un vínculo entre la plasmaféresis y FRT.

Treatment-related fluctuations in Guillain-Barré syndrome​: clinical features and predictors of recurrence.

BACKGROUND: A treatment-related fluctuation (TRF) in a patient with Guillain-Barré syndrome (GBS) is defined as clinical deterioration within two months of symptom onset following previous stabilization or improvements with treatment. OBJECTIVE: To investigate the clinical characteristics and factors that could increase the risk of relapse of GBS in patients with and without TRFs. METHODS: Retrospective review of medical records of patients (>18 years) with GBS evaluated between January/2006 and July/2019. Demographic and clinical characteristics, ancillary studies, treatment received, and the clinical course of patients with and without TRFs were analyzed. RESULTS: Overall, 124 cases of GBS were included; seven (5.6%) presented TRFs. GBS-TRF cases were triggered more frequently by infectious mononucleosis (28.57 vs. 8.55%; p=0.01). GBS-TRF were initially treated with plasmapheresis more frequently than those without TRF (14.29 vs. 1.70%; p=0.0349). Combined treatment (71.43 vs. 4.27%; p<0.001) and corticosteroids (42.86 vs. 1.71%; p<0.001) were more commonly used in the GBS-TRF group. GBS-TRF patients presented a higher median initial disability score (4 vs. 2; p=0.01). CONCLUSIONS: Patients with GBS triggered by infectious mononucleosis and a high degree of initial disability have higher chances of developing TRFs. Although patients with TRF were treated with plasmapheresis more often, the total number was too low to suggest a link between plasma exchange and TRF.

Childhood focal compressive mononeuropathies during the COVID-19 pandemic in Buenos Aires, Argentina.

INTRODUCTION/AIMS: Focal peripheral neuropathies are infrequently seen in pediatric patients. The COVID-19 pandemic has disrupted normal life for many people, including complete lockdowns and school closing for long periods of time in many countries, which prompted children to stay at home. Our aim is to assess whether there has been an increased incidence of focal compressive peripheral neuropathies in the pediatric population during COVID-19-associated lockdown. METHODS: Clinical, electrophysiological, and imaging characteristics were reviewed for patients referred to the electrodiagnostic (EDx) laboratory with suspicion of a focal neuropathy. The incidence of focal compressive peripheral neuropathies seen during the period of March to September 2020 was compared with the same time period in 2019. RESULTS: An increased incidence of focal neuropathies was seen in 2020 (31%) compared with 2019 (6.8%). During 2020, 7 fibular (peroneal) mononeuropathies and 2 ulnar neuropathies were diagnosed. Most patients with focal neuropathies were underweight and acknowledged prolonged screen time periods. Electrophysiological findings consisted of mostly demyelinating lesions with an overall good clinical outcome. DISCUSSION: In this study we raise awareness about a possible increased incidence of focal compressive peripheral neuropathies in children during COVID-19-associated lockdown, which may be prevented with changing positions during sedentary activities.

Distal myopathy with coexisting heterozygous TIA1 and MYH7 Variants.

TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac involvement. Muscle biopsy showed rare rimmed vacuoles, minicore-like structures and congophilic inclusions. Her 66-year-old sister has a mild distal myopathy, supraventricular tachycardia and hypertrophic cardiomyopathy. Both sisters carry the only known pathogenic TIA1 mutation and a heterozygous MYH7 variant (c.5459G > A; p.Arg1820Gln). Another sibling with isolated distal myopathy carries only the TIA1 mutation. MYH7 p.Arg1820Gln involves a highly conserved residue and is predicted to be deleterious. Furthermore, the proband's childhood-onset distal leg weakness and sister's cardiomyopathy suggest that MYH7 p.Arg1820Gln likely affects function, favoring a digenic etiology of the myopathy.

Vasculitic neuropathy following exposure to minocycline.

OBJECTIVE: To report 3 patients with minocycline-induced autoimmunity resulting in peripheral nerve vasculitis. METHODS: We report 3 patients who, during minocycline treatment for acne vulgaris, developed subacute onset of pain and weakness caused by vasculitis in single and multiple mononeuropathy patterns. RESULTS: Each patient underwent either a nerve or muscle biopsy that confirmed vasculitis. One patient additionally developed systemic symptoms (including fever, fatigue, and night sweats) and another had a posterior circulation stroke. Symptoms developed with either early or prolonged use of minocycline. Despite withdrawal of minocycline, patients needed long-term immunotherapy to gain neurologic improvement. CONCLUSIONS: Our findings suggest that the typical neuropathy associated with minocycline use is painful single or multiple mononeuropathy due to peripheral nerve vasculitis, which may also be accompanied by presumed CNS vasculitis (presenting as stroke).