P-ISSN 2587-2400 | E-ISSN 2587-196X
Acute Stroke in a Patient with Mucopolysaccharidosis Type I with Increased Carotid Intima-Media Thickness [EJMO]
EJMO. 2018; 2(2): 114-116 | DOI: 10.14744/ejmo.2018.51523

Acute Stroke in a Patient with Mucopolysaccharidosis Type I with Increased Carotid Intima-Media Thickness

Asburçe Olgaç1, Leyla Tümer1, Çağrı Damar2, Alev Hasanoğlu1, Fatih Ezgü1
1Department of Pediatric Metabolism and Nutrition, Gazi University Faculty of Medicine, Ankara, Turkey
2Department of Pediatric Radiology, Gazi University Faculty of Medicine, Ankara, Turkey

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.

Keywords: Cardiovascular system, carotid intima-media thickness, mucopolysaccharidosis type I, stroke, vasculopathy

Asburçe Olgaç, Leyla Tümer, Çağrı Damar, Alev Hasanoğlu, Fatih Ezgü. Acute Stroke in a Patient with Mucopolysaccharidosis Type I with Increased Carotid Intima-Media Thickness. EJMO. 2018; 2(2): 114-116

Corresponding Author: Asburçe Olgaç, Türkiye

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