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Open Access 01-03-2014 | Scientific Article

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

Authors: 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

Published in: Skeletal Radiology | Issue 3/2014

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.

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Title: Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose
Authors: 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
Publication date: 01-03-2014
Publisher: Springer Berlin Heidelberg
Published in: Skeletal Radiology / Issue 3/2014
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-013-1797-y

At a glance: The STEP trials

Springer Medicine

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

Abstract

Objective

Materials and Methods

Results

Conclusions

At a glance: The STEP trials

Springer Medicine

Abstract

Objective

Materials and Methods

Results

Conclusions

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