Congenital myasthenic syndrome in a cohort of patients with 'double' seronegative myasthenia gravis.
Journal
Arquivos de neuro-psiquiatria
ISSN: 1678-4227
Titre abrégé: Arq Neuropsiquiatr
Pays: Germany
ID NLM: 0125444
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
08
12
2020
accepted:
27
02
2021
pubmed:
22
12
2021
medline:
13
4
2022
entrez:
21
12
2021
Statut:
ppublish
Résumé
Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG). The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort. The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool. We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe). This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.
Sections du résumé
BACKGROUND
Congenital myasthenic syndromes (CMS) have some phenotypic overlap with seronegative myasthenia gravis (SNMG).
OBJECTIVE
The aim of this single center study was to assess the minimum occurrence of CMS misdiagnosed as double SNMG in a Brazilian cohort.
METHODS
The genetic analysis of the most common mutations in CHRNE, RAPSN, and DOK7 genes was used as the main screening tool.
RESULTS
We performed genetic analysis in 22 patients with a previous diagnosis of 'double' SNMG. In this study, one CMS patient was confirmed due to the presence of compound heterozygous variants in the CHRNE gene (c.130insG/p.Cys210Phe).
CONCLUSIONS
This study confirmed that CMS due to CHNRE mutations can be mistaken for SNMG. In addition, our study estimated the prevalence of misdiagnosed CMS to be 4.5% in 'double' SNMG patients of our center. Based on our findings, genetic screening could be helpful in the diagnostic workup of patients with 'double' SNMG in whom differential diagnosis is recommended.
Identifiants
pubmed: 34932651
pii: S0004-282X2021005028203
doi: 10.1590/0004-282X-ANP-2020-0575
pmc: PMC9651496
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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