{"title":"Young child with MuSK myasthenia gravis: treatment and remission with rituximab.","authors":"Julia Santarosa, Michael Cartwright","doi":"10.1136/bcr-2024-264445","DOIUrl":null,"url":null,"abstract":"<p><p>Myasthenia gravis is an autoimmune disorder characterised by autoantibodies directed against postsynaptic receptors of the neuromuscular junction. Muscle-specific tyrosine kinase (MuSK) myasthenia gravis is a subtype of myasthenia gravis containing antibodies specific to the MuSK subunit of the motor endplate. MuSK myasthenia gravis tends to display a severe clinical course, and most patients are refractory to treatment. Paediatric MuSK myasthenia gravis is exceedingly rare and is typically managed with pyridostigmine, corticosteroids and intravenous immunoglobulin or plasmapheresis for acute crisis control. This report discusses a case of a 4-year-old girl diagnosed with MuSK myasthenia gravis who was treated with rituximab. She is one of the youngest children in the literature to receive rituximab for this condition, and she continues to show favourable outcomes. This case demonstrates the safety and efficacy of this treatment in paediatric patients diagnosed with MuSK myasthenia gravis.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":"18 2","pages":""},"PeriodicalIF":0.6000,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-264445","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Myasthenia gravis is an autoimmune disorder characterised by autoantibodies directed against postsynaptic receptors of the neuromuscular junction. Muscle-specific tyrosine kinase (MuSK) myasthenia gravis is a subtype of myasthenia gravis containing antibodies specific to the MuSK subunit of the motor endplate. MuSK myasthenia gravis tends to display a severe clinical course, and most patients are refractory to treatment. Paediatric MuSK myasthenia gravis is exceedingly rare and is typically managed with pyridostigmine, corticosteroids and intravenous immunoglobulin or plasmapheresis for acute crisis control. This report discusses a case of a 4-year-old girl diagnosed with MuSK myasthenia gravis who was treated with rituximab. She is one of the youngest children in the literature to receive rituximab for this condition, and she continues to show favourable outcomes. This case demonstrates the safety and efficacy of this treatment in paediatric patients diagnosed with MuSK myasthenia gravis.
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.