Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
Mucopolysaccharidosis IVA (MPS IVA, or Morquio A syndrome) and VI (MPS VI, or Maroteaux–Lamy syndrome) are autosomal recessive lysosomal storage disorders. Skeletal abnormalities are common initial presenting symptoms and, when recognized early, may facilitate timely diagnosis and intervention, leading to improved patient outcomes. Patients with slowly progressing disease and nonclassic phenotypes can be particularly challenging to diagnose. The objective was to describe the radiographic features of patients with a delayed diagnosis of MPS IVA or VI.
Materials and Methods
This was a retrospective study. The records of 5 MPS IVA and 3 MPS VI patients with delayed diagnosis were reviewed. Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.
An important common theme in these cases was the appearance of multiple epiphyseal dysplasia (MED) with epiphyseal changes seemingly confined to the capital (proximal) femoral epiphyses. Very few patients had the skeletal features of classical dysostosis multiplex.
Radiologists should appreciate the wide phenotypic variability of MPS IVA and VI. The cases presented here illustrate the importance of considering MPS in the differential diagnosis of certain skeletal dysplasias/disorders, including MED, some forms of spondylo-epiphyseal dysplasia (SED), and bilateral Perthes-like disease. It is important to combine radiographic findings with clinical information to facilitate early testing and accurate diagnosis.
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- Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
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Volume 43, Issue 3 , pp 359-369
- Cover Date
- Print ISSN
- Online ISSN
- Springer Berlin Heidelberg
- Additional Links
- Morquio A
- MPS IVA
- MPS VI
- Dysostosis multiplex
- Multiple epiphyseal dysplasia
- Spondylo-epiphyseal dysplasia
- Industry Sectors
- Author Affiliations
- 1. International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center/University of California, Los Angeles, Los Angeles, CA, USA
- 13. International Skeletal Dysplasia Registry, c/o 325 Channing Ave, #111, Palo Alto, CA, 94301, USA
- 2. Ann and Robert H. Lurie Children’s Hospital of Chicago and Northwestern University Feinberg School of Medicine, Chicago, IL, USA
- 3. Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada
- 4. Stanford University School of Medicine, Stanford, CA, USA
- 5. Laboratory for Bone and Joint Diseases, Centre for Integrative Medical Sciences, RIKEN, Tokyo, Japan
- 6. Sungkyunkwan University School of Medicine, Seoul, South Korea
- 7. Ajou University Hospital, Suwon, South Korea
- 8. University Medical Center, University of Mainz, Mainz, Germany
- 9. Children’s Hospitals and Clinics of Minnesota, Minneapolis, MN, USA
- 10. BioMarin Pharmaceutical Inc., Novato, CA, USA
- 11. Children’s National Medical Center, Washington, DC, USA
- 12. Seattle Children’s Hospital, Seattle, WA, USA