Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil
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Citações na Scopus
11
Tipo de produção
article
Data de publicação
2018
Título da Revista
ISSN da Revista
Título do Volume
Editora
PERGAMON-ELSEVIER SCIENCE LTD
Autores
MORENO, Cristiane Araujo Martins
HORVATH, Rita
TOPF, Ana
LOCHMUELLER, Hanns
Citação
NEUROMUSCULAR DISORDERS, v.28, n.11, p.961-964, 2018
Resumo
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS), leading to endplate acetylcholine receptor deficiency. We present three RAPSN earlyonset CMS patients (from a Brazilian cohort of 61 CMS patients). Patient 1 and patient 2 harbor the mutation p.N88K in homozygosity, while patient 3 harbors p.N88K in compound heterozygosity with another pathogenic variant (p.V165M; c.493G > A). At onset, patient 3 presented with more severe symptoms compared to the other two, showing generalized weakness and repeated episodes of respiratory failure in the first years of life. During adolescence, she became gradually less symptomatic and does not require medication anymore, presenting better long-term outcomes than patients 1 and 2. This case series illustrates the variability of RAPSN earlyonset CMS, with patient 3, despite severe onset, revealing an almost complete reversal of myasthenic symptoms, not limited to apneic episodes. Moreover, it suggests that RAPSN CMS may be underdiagnosed in nonEuropean countries.
Palavras-chave
Congenital myasthenic syndrome, Congenital myasthenia, RAPSN, rapsyn, neuromuscular
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