Renal artery fibromuscular dysplasia in Pompe disease: A case report

Mol Genet Metab Rep. 2018 Jul 26:16:64-65. doi: 10.1016/j.ymgmr.2018.07.002. eCollection 2018 Sep.

Abstract

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.

Keywords: All clinical neurology; Glycogenoses; Metabolic disease (inherited); Muscle disease.

Publication types

  • Case Reports