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Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature

Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presence of both antibodies in the serum of patients with...

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Autores principales: Ge, XiuShan, Wei, CuiJie, Dong, Hui, Zhang, YueHua, Bao, XinHua, Wu, Ye, Song, DanYu, Hao, HongJun, Xiong, Hui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131937/
https://www.ncbi.nlm.nih.gov/pubmed/35633954
http://dx.doi.org/10.3389/fped.2022.788353
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author Ge, XiuShan
Wei, CuiJie
Dong, Hui
Zhang, YueHua
Bao, XinHua
Wu, Ye
Song, DanYu
Hao, HongJun
Xiong, Hui
author_facet Ge, XiuShan
Wei, CuiJie
Dong, Hui
Zhang, YueHua
Bao, XinHua
Wu, Ye
Song, DanYu
Hao, HongJun
Xiong, Hui
author_sort Ge, XiuShan
collection PubMed
description Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presence of both antibodies in the serum of patients with myasthenia gravis has been rarely reported. Case description: A 9-year-old girl was admitted to our hospital with the chief complaints of reduced facial expression for 3 months and unclear speech and choking from drinking water for 2 months. The diagnosis of generalized myasthenia gravis was made based on clinical manifestations, repetitive electrical nerve stimulation, neostigmine tests, specific antibody tests and other auxiliary examinations. We found the rare coexistence of two key antibodies (anti-AChR and anti-MuSK antibodies) in the patient's serum. The patient experienced myasthenic crisis and received respiratory support even though she was taking prednisone therapy. Due to the poor response to treatment with pyridostigmine bromide, glucocorticoids and IVIG, we administered rituximab therapy, and she responded well and achieved clinical remission. This suggests that clinicians should pay more attention to atypical cases and antibody detection. Rituximab should be considered when conventional treatment fails.
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spelling pubmed-91319372022-05-26 Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature Ge, XiuShan Wei, CuiJie Dong, Hui Zhang, YueHua Bao, XinHua Wu, Ye Song, DanYu Hao, HongJun Xiong, Hui Front Pediatr Pediatrics Myasthenia gravis is an autoimmune disease mediated by B cells and is associated with acetylcholine receptor (AChR) and muscle-specific receptor tyrosine kinase (MuSK) antibodies in the postsynaptic membrane at the neuromuscular junction. The presence of both antibodies in the serum of patients with myasthenia gravis has been rarely reported. Case description: A 9-year-old girl was admitted to our hospital with the chief complaints of reduced facial expression for 3 months and unclear speech and choking from drinking water for 2 months. The diagnosis of generalized myasthenia gravis was made based on clinical manifestations, repetitive electrical nerve stimulation, neostigmine tests, specific antibody tests and other auxiliary examinations. We found the rare coexistence of two key antibodies (anti-AChR and anti-MuSK antibodies) in the patient's serum. The patient experienced myasthenic crisis and received respiratory support even though she was taking prednisone therapy. Due to the poor response to treatment with pyridostigmine bromide, glucocorticoids and IVIG, we administered rituximab therapy, and she responded well and achieved clinical remission. This suggests that clinicians should pay more attention to atypical cases and antibody detection. Rituximab should be considered when conventional treatment fails. Frontiers Media S.A. 2022-05-11 /pmc/articles/PMC9131937/ /pubmed/35633954 http://dx.doi.org/10.3389/fped.2022.788353 Text en Copyright © 2022 Ge, Wei, Dong, Zhang, Bao, Wu, Song, Hao and Xiong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Ge, XiuShan
Wei, CuiJie
Dong, Hui
Zhang, YueHua
Bao, XinHua
Wu, Ye
Song, DanYu
Hao, HongJun
Xiong, Hui
Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title_full Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title_fullStr Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title_full_unstemmed Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title_short Juvenile Generalized Myasthenia Gravis With AChR and MuSK Antibody Double Positivity: A Case Report With a Review of the Literature
title_sort juvenile generalized myasthenia gravis with achr and musk antibody double positivity: a case report with a review of the literature
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9131937/
https://www.ncbi.nlm.nih.gov/pubmed/35633954
http://dx.doi.org/10.3389/fped.2022.788353
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