Rituximab in late-onset myasthenia gravis is safe and effective.

INTRODUCTION: Late-onset myasthenia gravis (LOMG; onset after 50 years of age) has different therapeutic decisionmaking challenges than MG in younger patients. METHODS: This is a retrospective series of seven patients with acetylcholine receptor antibody-positive MG, all treated with rituximab. RESULTS: The mean age of onset was 66 years. Three patients were nonresponders to previous therapy and six had developed side effects to prednisone. All patients were treated with at least one dose of rituximab. The MG Foundation of America Post-Intervention Status ranged from MM-0 to MM-3 within a mean of 18.5 weeks. All patients were able to reduce or discontinue maintenance medications. No significant adverse events occurred. DISCUSSION: This series highlights the safety and efficacy of rituximab in LOMG. The presence of multiple comorbidities and the risks of other immunotherapy in older patients makes rituximab an attractive option. More experience is needed to clarify the use of rituximab for patients in this age group.

FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.

Mutations in FARS2, the gene encoding the mitochondrial phenylalanine-tRNA synthetase (mtPheRS), have been linked to a range of phenotypes including epileptic encephalopathy, developmental delay, and motor dysfunction. We report a 9-year-old boy with novel compound heterozygous variants of FARS2, presenting with a pure spastic paraplegia syndrome associated with bilateral signal abnormalities in the dentate nuclei. Exome sequencing identified a paternal nonsense variant (Q216X) lacking the catalytic core and anticodon-binding regions, and a maternal missense variant (P136H) possessing partial enzymatic activity. This case confirms and expands the phenotype related to FARS2 mutations with regards to clinical presentation and neuroimaging findings.

Neurological Prognostication of Cardiac Arrest in an Era of Extracorporeal Membrane Oxygenation.

A neuron-specific enolase level greater than 33 ng/mL at days 1 to 3 or status myoclonus within 1 day are traditional indicators of poor neurological prognosis in survivors of cardiac arrest. We report the case of a 70-year-old man who received extracorporeal membrane oxygenation following cardiac arrest. Despite having both an elevated neuron-specific enolase concentration of 68 ng/mL and status myoclonus, he made an excellent neurological recovery. The value of traditional markers of poor prognosis such as elevated neuron-specific enolase or status myoclonus has not been systematically validated in patients treated with extracorporeal membrane oxygenation or therapeutic hypothermia. Straightforward application of practice guidelines in these cases may result in tragic outcomes. This case underscores the need for reliable prognostic markers that account for recent advances in cardiopulmonary and neurological therapies.