Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication
Autor(es): Münch Christoph,Epplen Jörg T,Meins Moritz,Meyer Robert,Weber Jörg R,Meyer Thomas
Resumo: We report a patient with Guillain-Barré syndrome (GBS), characterized by severe tetraparesis, bulbar syndrome, and ophthalmoparesis. The nadir was reached within 1 day, followed by respiratory insufficiency requiring mechanical ventilation. Molecular analysis revealed a duplication at chromosome 17p11.2-12, which is a known genetic cause of Charcot-Marie-Tooth disease type 1A (CMT1A). We suggest that this genotype may comprise a previously unrecognized genetic risk factor for GBS.
Palavras-Chave: Charcot-Marie-Tooth disease; Chromosome 17p11.2-12 dupli-cation; Guillain-Barre´ syndrome
Imprenta: Muscle & Nerve, v. 37, n. 2, p. 256-258, 2008
Identificador do objeto digital: 10.1002/mus.20881
Descritores: Guillain-Barre Syndrome - Cell ; Guillain-Barre Syndrome - Genome ; Guillain-Barre Syndrome - Pathogenesis
Data de publicação: 2008
