Severe Guillain-Barré syndrome associated with chromosome 17p11.2-12 duplication
Christoph Münch1, Jörg T Epplen, Moritz Meins
1Department of Neurology, Jewish Hospital Berlin, Heinz-Galinski-Strasse 1, 13347 Berlin, Germany. christoph.muench@uni-ulm.de
Abstract:
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.
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