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1.
J Child Neurol ; 20(5): 441-4, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15968930

RESUMO

We report two children with transient myasthenia gravis preceded by viral illnesses. The first is a 5-year-old boy who developed oculobulbar weakness 2 weeks following a varicella-zoster infection. The second is a 4-year-old boy who developed facial diplegia and dysarthria several weeks following a viral pharyngitis. Myasthenia gravis was diagnosed based on the substantial decremental changes on 3 Hz repetitive motor nerve stimulation studies for the first child and on the positive edrophonium test and complete improvement in symptoms during pyridostigmine therapy for both children. In both cases, the symptoms gradually resolved and have not recurred following discontinuation of pyridostigmine. Molecular mimicry between the acetylcholine receptor and viral proteins might provide the nidus for the immune response in this variant of myasthenia gravis.


Assuntos
Varicela/complicações , Miastenia Gravis/virologia , Pré-Escolar , Humanos , Masculino , Miastenia Gravis/diagnóstico , Miastenia Gravis/terapia
2.
Muscle Nerve ; 32(3): 368-72, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-15880682

RESUMO

We report a family with markedly variable myopathic weakness due to facioscapulohumeral muscular dystrophy (FSHD). The proband developed mild late-onset proximal limb weakness. Her two daughters had severe infantile facial diplegia, initially diagnosed as Möbius syndrome, and mild childhood-onset limb weakness and scapular winging. Results of facial muscle electromyography and muscle histopathology supported a myopathic disorder. This case study further highlights the broad clinical spectrum and intrafamily variability in FSHD, and the occasional absence of a positive correlation between fragment size and disease onset. Moreover, this study underscores the importance of considering FSHD in cases of infantile facial diplegia, especially in patients not demonstrating the full clinical features of Möbius syndrome. In difficult cases, facial muscle electromyography may help to differentiate myopathic from neuropathic weakness, and help guide further diagnostic studies.


Assuntos
Músculos Faciais/fisiopatologia , Debilidade Muscular/fisiopatologia , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Distrofia Muscular Facioescapuloumeral/fisiopatologia , Adolescente , Idade de Início , Biópsia , Cromossomos Humanos Par 4/genética , Eletromiografia , Deleção de Genes , Predisposição Genética para Doença/genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Síndrome de Möbius/diagnóstico , Debilidade Muscular/congênito , Debilidade Muscular/etiologia , Músculo Esquelético/patologia , Músculo Esquelético/fisiopatologia , Distrofia Muscular do Cíngulo dos Membros/complicações , Distrofia Muscular do Cíngulo dos Membros/diagnóstico , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/congênito , Mutação/genética
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