Abstract
Pompe disease is a rare inherited multisystemic metabolic disorder with involvement of several tissues and organs including smooths cells. Some reports have documented cerebrovascular malformations as aneurysms or vertebrobasilar dolicoectasia in patients with Pompe disease whereas the occurrence of arterial malformations is quite rare in different sites. We describe the presence and type of arterial abnormalities in three of late onset Pompe disease (LOPD) patients. A cerebral, thoracic and abdominal CT angiography, was used to study these patients. Results - 2 unruptured intracranial aneurysms were found (respectively 4 mm and 4,7 mm) in two LOPD patients (M/ 50, F/58) whereas in a 48 yrs old man a large thoracic aortic aneurysm was detected. The 4,7 mm aneurism of anterior cominicating artery was immediately treated with success with endovascular procedures. Our data confirm that dilative arteriopathy, not only in the cerebrovascular system, is a phenotypic feature in LOPD. Early recognition of ectasias and aneurysms as well as an appropriate intervention by stenting, coiling or other surgical procedure may prevent mild or severe cerebrovascular complications or even death in LOPD patients. Consequentially, performing a CT angiography or a MR angiography in all LOPD patients is recommended for early detection of this kind of vascular malformations.
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