Young child with MuSK myasthenia gravis: treatment and remission with rituximab

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.

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Publication Details

Journal
BMJ Case Reports
Published
2025-02-01
DOI
https://doi.org/10.1136/bcr-2024-264445
Primary Topic
Myasthenia Gravis and Thymoma
Type
article
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article

Young child with MuSK myasthenia gravis: treatment and remission with rituximab

Michael Cartwright, Julia Santarosa
1 links
BMJ Case Reports
Myasthenia Gravis and Thymoma
article

Young child with MuSK myasthenia gravis: treatment and remission with rituximab

Michael Cartwright, Julia Santarosa
article en

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.

BMJ Case ReportsVol. 18(2)
Atrium Health Wake Forest Baptist (US), Wake Forest University (US)
Good health and well-being
Openalex Percentile: Top 94%
Myasthenia Gravis and Thymoma
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