A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome : Radiographic and MRI Appearance
Joint Authors
Luca, Innocenzi
Moffa, Stefano
Teresa, Paolucci
Di Cagno, Alessandra
Giombini, Arrigo
Di Cesare, Annalisa
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-07-05
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Di Cesare, Annalisa& Di Cagno, Alessandra& Moffa, Stefano& Teresa, Paolucci& Luca, Innocenzi& Giombini, Arrigo. 2012. A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome : Radiographic and MRI Appearance. Case Reports in Medicine،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-463546
Modern Language Association (MLA)
Di Cesare, Annalisa…[et al.]. A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome : Radiographic and MRI Appearance. Case Reports in Medicine No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-463546
American Medical Association (AMA)
Di Cesare, Annalisa& Di Cagno, Alessandra& Moffa, Stefano& Teresa, Paolucci& Luca, Innocenzi& Giombini, Arrigo. A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome : Radiographic and MRI Appearance. Case Reports in Medicine. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-463546
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-463546