Congenital myasthenic syndrome due to mutation in CHRNE gene with clinical worsening and thymic hyperplasia attributed to association with autoimmune-myasthenia gravis

• Tipo: Artigo em Revista Científica Internacional
• Data: 2015

Autores

Santos, E (Autor) Outra; Moreira, I (Autor) Outra; Coutinho, E (Autor) Outra; Macedo G (Autor) FMUP; Lopes, C (Autor) Outra; Lima, JL (Autor) Outra; Leite, MI (Autor) Outra

Revista

Título: Neuromuscular Disorders

Vol. 25

Páginas: 928-931

ISSN: 0960-8966

Editora: Elsevier

Indexação

ISI Web of Knowledge - 4 Citações

Scopus - 4 Citações

Outras Informações

ID Authenticus: P-00J-ZMR

DOI: 10.1016/j.nmd.2015.08.001

Abstract (EN): We report a patient with congenital myasthenic syndrome (CMS) due to mutation in CHRNE with symptoms since the age of 4; mild to moderate fatigable weakness involved mainly ocular, bulbar and limb muscles; functional impact of the disease in their development and physical activity was modest. By the age of 34, the patient experienced gradual worsening of fatigue with dyspnoea and pronounced limb weakness, requiring significant increase of pyridostigmine. Further, a remarkable and sustained clinical improvement followed thymectomy with hyperplastic thymus. Despite of the absence of detectable antibodies to acetyl-choline receptor (AChR) (including clustered-AChR), muscle-specific kinase and low-density lipoprotein receptor-related protein-4 antibodies in the serum obtained nine years after thymectomy, the clinical, genetic and histological features are in keeping with the extremely rare association of two rare neuromuscular junction disorders CMS and myasthenia gravis (MG). The inexistence of other conditions that could potentially associate with thymic hyperplasia also supports the diagnosis of MG.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 4