Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase. Cardiovascular involvement in MPS I includes deposition of glycosaminoglycans (GAGs) in the myocardium, cardiac valves, great vessels, and coronary arteries. Although the vascular effects of GAG accumulation are well known, the clinical effects of the histopathological changes are poorly understood. Because most studies on the vascular effects of GAG accumulation are performed postmortem or with invasive techniques such as angiography, recent studies have focused on endothelial function in patients with MPS I and noninvasive techniques that may help detect vascular dysfunction. Presently described is the case of a patient with MPS type I with acute stroke and proven endothelial dysfunction.
Corresponding Author: Asburçe Olgaç