Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose

Ralph S. Lachman*, Barbara K. Burton, Lorne A. Clarke, Scott Hoffinger, Shiro Ikegawa, Dong Kyu Jin, Hiroki Kano, Ok Hwa Kim, Christina Lampe, Nancy J. Mendelsohn, Renée Shediac, Pranoot Tanpaiboon, Klane K. White

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

27 Scopus citations

Abstract

Objective: 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. Results: 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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)359-369
Number of pages11
JournalSkeletal Radiology
Volume43
Issue number3
DOIs
StatePublished - Mar 2014

Keywords

  • Dysostosis multiplex
  • MED
  • MPS
  • MPS IVA
  • MPS VI
  • Maroteaux-Lamy
  • Morquio
  • Morquio A
  • Mucopolysaccharidosis
  • Multiple epiphyseal dysplasia
  • SED
  • Spondylo-epiphyseal dysplasia

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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