BACKGROUND: Pompe disease or type 2 glycogen storage disease is an inherited condition that generally afflicts the heart and skeletal muscle. Nervous tissue involvement is known; however, the effect on cerebral vasculature is less well understood. CASE DESCRIPTION: The thrombotic complications of a fusiform basilar artery aneurysm in a young adult patient with Pompe disease is presented with complete CT, MRI, and angiographic findings. CONCLUSION: We suggest that in young adult patients with Pompe disease, MRA screening of intracerebral vessels may be considered with the goal of potentially diagnosing thrombotic and thromboembolic complications.
BACKGROUND: Pompe disease or type 2 glycogen storage disease is an inherited condition that generally afflicts the heart and skeletal muscle. Nervous tissue involvement is known; however, the effect on cerebral vasculature is less well understood. CASE DESCRIPTION: The thrombotic complications of a fusiform basilar artery aneurysm in a young adult patient with Pompe disease is presented with complete CT, MRI, and angiographic findings. CONCLUSION: We suggest that in young adult patients with Pompe disease, MRA screening of intracerebral vessels may be considered with the goal of potentially diagnosing thrombotic and thromboembolic complications.
Authors: A Pichiecchio; S Sacco; P De Filippi; E Caverzasi; S Ravaglia; S Bastianello; C Danesino Journal: J Neurol Date: 2017-08-30 Impact factor: 4.849
Authors: Manuela Corti; Cristina Liberati; Barbara K Smith; Lee Ann Lawson; Ibrahim S Tuna; Thomas J Conlon; Kirsten E Coleman; Saleem Islam; Roland W Herzog; David D Fuller; Shelley W Collins; Barry J Byrne Journal: Hum Gene Ther Clin Dev Date: 2017-12 Impact factor: 5.032