Add to ORKGAdult-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 alterati...
Marfan’s syndrome is an autosomal dominant disorder of connective tissue affecting approximately1 in...
Giant cell arteritis (GCA) is a systemic large vessel vasculitis, with extracranial arterial involve...
Abdominal aortic aneurysm prevalence among men older than 65 years of age has been reported to be as...
Adult-type Pompe’s disease (glycogen storage disease type II) has rarely been shown to present with ...
Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with ...
BACKGROUND: A 24-year-old man presented with previously diagnosed Marfan\u27s syndrome. Since the ag...
Firstly described in the 19th century by Sir William Osler, the mycotic aneurysm (MA) is a rare enti...
Loeys-Dietz syndrome (LDS) is a recently reported autosomal dominant aortic aneurysm syndrome with w...
Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hyper...
Aneurysm formation is a well-known complication of untreated long-standing dissection of the aorta. ...
AbstractWe report the case of a 19-year-old man with a history of Loeys–Dietz syndrome (LDS), which ...
Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death ...
Here we present you a Type II of Crawford classification aortic aneurysm. Our patient 8...
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been describe...
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficie...
Marfan’s syndrome is an autosomal dominant disorder of connective tissue affecting approximately1 in...
Giant cell arteritis (GCA) is a systemic large vessel vasculitis, with extracranial arterial involve...
Abdominal aortic aneurysm prevalence among men older than 65 years of age has been reported to be as...
Adult-type Pompe’s disease (glycogen storage disease type II) has rarely been shown to present with ...
Adult-type Pompe's disease (glycogen storage disease type II) has rarely been shown to present with ...
BACKGROUND: A 24-year-old man presented with previously diagnosed Marfan\u27s syndrome. Since the ag...
Firstly described in the 19th century by Sir William Osler, the mycotic aneurysm (MA) is a rare enti...
Loeys-Dietz syndrome (LDS) is a recently reported autosomal dominant aortic aneurysm syndrome with w...
Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hyper...
Aneurysm formation is a well-known complication of untreated long-standing dissection of the aorta. ...
AbstractWe report the case of a 19-year-old man with a history of Loeys–Dietz syndrome (LDS), which ...
Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death ...
Here we present you a Type II of Crawford classification aortic aneurysm. Our patient 8...
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been describe...
Pompe disease (PD) is a rare, inherited autosomal recessive metabolic disorder caused by the deficie...
Marfan’s syndrome is an autosomal dominant disorder of connective tissue affecting approximately1 in...
Giant cell arteritis (GCA) is a systemic large vessel vasculitis, with extracranial arterial involve...
Abdominal aortic aneurysm prevalence among men older than 65 years of age has been reported to be as...