Radiographic Features of Mucopolysaccharidosis Type VI Skeletal Manifestations

Résumé

We present a case of a patient in his twenties, diagnosed with mucopolysaccharidosis type VI at 7 years old, and since then under enzyme replacement therapy. He has a clinical history of short stature, hypogonadism, moderate mitral and aortic valve insufficiency, bilateral hip dysplasia, bilateral carpal tunnel syndrome and bilateral corneal clouding. A skeletal radiographic evaluation showed typical radiological features of this disease, generally referred to as dysostosis multiplex.

Maroteaux-Lamy syndrome is a rare genetic disease, associated with several clinical manifestations, affecting virtually all organic systems. The most distinctive features of this syndrome are skeletal, with characteristic imaging findings on skeletal radiography, which we demonstrate in this article.