Münch Christoph, Epplen Jörg T, Meins Moritz, Meyer Robert, Weber Jörg R, Meyer Thomas
Department of Neurology, Jewish Hospital Berlin, Heinz-Galinski-Strasse 1, 13347 Berlin, Germany.
Muscle Nerve. 2008 Feb;37(2):256-8. doi: 10.1002/mus.20881.
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.
我们报告了一名患有吉兰-巴雷综合征（GBS）的患者，其特征为严重的四肢轻瘫、延髓综合征和眼肌麻痹。在1天内病情达到最低点，随后出现呼吸功能不全，需要机械通气。分子分析显示17p11.2 - 12染色体存在重复，这是1A型夏科-马里-图斯病（CMT1A）的已知遗传病因。我们认为这种基因型可能构成了GBS一种先前未被认识的遗传危险因素。
