A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance
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 investiga...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Case Reports in Medicine |
| Online Access: | http://dx.doi.org/10.1155/2012/324596 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849404587174264832 |
|---|---|
| author | Annalisa Di Cesare Alessandra Di Cagno Stefano Moffa Paolucci Teresa Innocenzi Luca Arrigo Giombini |
| author_facet | Annalisa Di Cesare Alessandra Di Cagno Stefano Moffa Paolucci Teresa Innocenzi Luca Arrigo Giombini |
| author_sort | Annalisa Di Cesare |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9aed343c68f344cb9b11071fb4ba5bf0 |
| institution | Kabale University |
| issn | 1687-9627 1687-9635 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Medicine |
| spelling | doaj-art-9aed343c68f344cb9b11071fb4ba5bf02025-08-20T03:36:57ZengWileyCase Reports in Medicine1687-96271687-96352012-01-01201210.1155/2012/324596324596A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI AppearanceAnnalisa Di Cesare0Alessandra Di Cagno1Stefano Moffa2Paolucci Teresa3Innocenzi Luca4Arrigo Giombini5Operative Complex Unit of Physical Medicine and Rehabilitation, Policlinico Umberto I Hospital, Piazzale Aldo Moro 5, 00185 Rome, ItalyDepartment of Medicine and Healt Sciences, University of Molise, Via Francesco De Sanctis, 86100 Campobasso, ItalyDepartment of Medicine and Healt Sciences, University of Molise, Via Francesco De Sanctis, 86100 Campobasso, ItalyOperative Complex Unit of Physical Medicine and Rehabilitation, Policlinico Umberto I Hospital, Piazzale Aldo Moro 5, 00185 Rome, ItalyDepartment of Imaging BIOS Spa, Via Domenico Chelini 39, 00100 Rome, ItalyDepartment of Medicine and Healt Sciences, University of Molise, Via Francesco De Sanctis, 86100 Campobasso, ItalyWe 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.http://dx.doi.org/10.1155/2012/324596 |
| spellingShingle | Annalisa Di Cesare Alessandra Di Cagno Stefano Moffa Paolucci Teresa Innocenzi Luca Arrigo Giombini A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance Case Reports in Medicine |
| title | A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance |
| title_full | A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance |
| title_fullStr | A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance |
| title_full_unstemmed | A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance |
| title_short | A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance |
| title_sort | description of skeletal manifestation in adult case of morquio syndrome radiographic and mri appearance |
| url | http://dx.doi.org/10.1155/2012/324596 |
| work_keys_str_mv | AT annalisadicesare adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT alessandradicagno adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT stefanomoffa adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT paolucciteresa adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT innocenziluca adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT arrigogiombini adescriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT annalisadicesare descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT alessandradicagno descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT stefanomoffa descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT paolucciteresa descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT innocenziluca descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance AT arrigogiombini descriptionofskeletalmanifestationinadultcaseofmorquiosyndromeradiographicandmriappearance |