title: Huge aneurysm of the ascending aorta in a patient with adult-type Pompe's disease: histological findings mimicking fibrillinopathy.
abstract: Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with dilatative arteriopathy, suggesting potential smooth muscle involvement in addition to lysosomal glycogen deposits usually restricted to skeletal muscle tissue. We report the case of a middle-aged man under enzyme replacement therapy presenting with an exceedingly large thoracic aortic aneurysm. Surprisingly, the histological work-up of resected aortic tissue revealed changes mimicking those observed in patients with classic connective tissue diseases. Enzyme replacement therapy, in addition to musculoskeletal and pulmonary treatment for patients with Pompe's disease, may prolong survival and lead to patients presenting with vascular alterations that may pose surgical and potential diagnostic challenges in the future.
authors.affiliation: Department of Cardiovascular Surgery, Inselspital, University Hospital, University of Bern, Bern, Switzerland. volkhard.goeber@insel.ch
authors.forename: Volkhard
authors.initials: V
authors.lastname: Goeber
authors.forename: Yara
authors.initials: Y
authors.lastname: Banz
authors.forename: Anja
authors.initials: A
authors.lastname: Kaeberich
authors.forename: Thierry
authors.initials: T
authors.lastname: Carrel
mesh_terms: D001011:Aorta / Q000473:pathology* / Q000601:surgery; D017545:Aortic Aneurysm, Thoracic / Q000473:pathology*; D056947:Enzyme Replacement Therapy; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000473:pathology*; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008875:Middle Aged; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed; D058017:Vascular Grafting