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Case Reports in Medicine
Volume 2012, Article ID 324596, 6 pages
http://dx.doi.org/10.1155/2012/324596
Case Report

A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance

1Operative Complex Unit of Physical Medicine and Rehabilitation, Policlinico Umberto I Hospital, Piazzale Aldo Moro 5, 00185 Rome, Italy
2Department of Medicine and Healt Sciences, University of Molise, Via Francesco De Sanctis, 86100 Campobasso, Italy
3Department of Imaging BIOS Spa, Via Domenico Chelini 39, 00100 Rome, Italy

Received 11 April 2012; Revised 21 May 2012; Accepted 21 May 2012

Academic Editor: Jeffrey C. Wang

Copyright © 2012 Annalisa Di Cesare et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investigation. Conventional plain films of the entire spine, pelvis, chest and knees together with magnetic resonance imaging of the entire column, hip, knees, and ankles demonstrated the characteristics of skeletal changes of this disease. The main abnormalities were platyspondily and hypoplasia of the odontoid process, genua valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Radiographs and above all magnetic resonance imaging are crucial to provide substantial information about the gravity, evolution of the skeletal and joints changes, and the rehabilitation strategies to be followed.