文章基本信息

标题：Renal artery fibromuscular dysplasia in Pompe disease: A case report
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作者：Evangelia Pappa ; Constantinos Papadopoulos ; Philippe Grimbert 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2018
卷号：16
页码：64-65
DOI：10.1016/j.ymgmr.2018.07.002
出版社：Elsevier B.V.
摘要：Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. We propose that the association of LOPD and arteriopathy should always be considered in clinical practice.
关键词：Muscle disease ; Glycogenoses ; Metabolic disease (inherited) ; All clinical neurology