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Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report

Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital...

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Autores principales: Mukhtiar, Khairunnisa, Raza, Mohammad, Tejani, Isbaah, Ali, Farhan, Ibrahim, Shahnaz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10631333/
https://www.ncbi.nlm.nih.gov/pubmed/38022851
http://dx.doi.org/10.1177/2050313X231211047
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author Mukhtiar, Khairunnisa
Raza, Mohammad
Tejani, Isbaah
Ali, Farhan
Ibrahim, Shahnaz
author_facet Mukhtiar, Khairunnisa
Raza, Mohammad
Tejani, Isbaah
Ali, Farhan
Ibrahim, Shahnaz
author_sort Mukhtiar, Khairunnisa
collection PubMed
description Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital myasthenia, transient myasthenia, and autoimmune myasthenia. We present four cases of myasthenia between the ages of 10 and 30 months. The diagnosis and management of these cases were challenging due to the variability in clinical presentation. Four cases of myasthenia were diagnosed, with three having autoimmune myasthenia and one having congenital myasthenic syndrome. One patient initially tested negative for acetylcholine receptor antibodies, but later tested positive after 4 months and had a rare facial diplegia finding. The patient with congenital myasthenic syndrome had a novel genetic mutation, DPAGT1 homozygous variants, and also had false positive acetylcholine receptor antibodies. These cases highlight the importance of genetic testing for all infants and toddlers suspected of having myasthenia.
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spelling pubmed-106313332023-11-07 Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report Mukhtiar, Khairunnisa Raza, Mohammad Tejani, Isbaah Ali, Farhan Ibrahim, Shahnaz SAGE Open Med Case Rep Case Report Myasthenia in the infancy and toddler age group is rare and often presents a challenge to treating pediatric neurologists. Our report addresses the challenges encountered when distinguishing myasthenia in infants and toddlers from similar illnesses, as well as the differentiation between congenital myasthenia, transient myasthenia, and autoimmune myasthenia. We present four cases of myasthenia between the ages of 10 and 30 months. The diagnosis and management of these cases were challenging due to the variability in clinical presentation. Four cases of myasthenia were diagnosed, with three having autoimmune myasthenia and one having congenital myasthenic syndrome. One patient initially tested negative for acetylcholine receptor antibodies, but later tested positive after 4 months and had a rare facial diplegia finding. The patient with congenital myasthenic syndrome had a novel genetic mutation, DPAGT1 homozygous variants, and also had false positive acetylcholine receptor antibodies. These cases highlight the importance of genetic testing for all infants and toddlers suspected of having myasthenia. SAGE Publications 2023-11-07 /pmc/articles/PMC10631333/ /pubmed/38022851 http://dx.doi.org/10.1177/2050313X231211047 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Mukhtiar, Khairunnisa
Raza, Mohammad
Tejani, Isbaah
Ali, Farhan
Ibrahim, Shahnaz
Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title_full Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title_fullStr Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title_full_unstemmed Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title_short Diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: A case report
title_sort diagnostic dilemmas and challenges in the management of myasthenia in infants and toddlers: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10631333/
https://www.ncbi.nlm.nih.gov/pubmed/38022851
http://dx.doi.org/10.1177/2050313X231211047
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