Volume 12 Supplement 1

Proceedings of the 21st European Pediatric Rheumatology (PReS) Congress

Open Access

Muskoskeletal manifestations of mild form of mucopolysaccharidosis iva - a clinical case

  • Margarita Ganeva1,
  • Stefan Stefanov1,
  • Daniela Avdjieva2,
  • Radka Tincheva2,
  • Ivanka Sinigerska3,
  • Dinko Zahariev4,
  • Julia Bachvarova1 and
  • Zdravka Todorova5
Pediatric Rheumatology201412(Suppl 1):P163

https://doi.org/10.1186/1546-0096-12-S1-P163

Published: 17 September 2014

Introduction

Mucopolysaccharidosis IVA (MPS IVA) is a rare inherited metabolic disorder caused by galactosamine-6-sulfate sulfatase (GALNS) enzyme deficiency that leads to progressive lysosomal accumulation of glycosaminoglycans (GAGs). MPS IVA has a variable age of onset and variable severity. Clinical presentation is heterogeneous, and some cases are only mildly affected. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. It is the milder forms of MPS that are often diagnosed late or misdiagnosed as an inflammatory joint disease.

Objectives

To describe a clinical case of muskoskeletal involvement in a patient with MPS IVA and to raise awareness for the timely diagnosis.

Methods

Case report.

Results

We present a case of a 12-year old boy with a 2-year history of hip and lower back pain, morning stiffness and disordered gait. A CT scan was performed prior to admission – it revealed changes in the femoral heads as a result of severe narrowing of the epiphyseal region, shallow acetabulum and femoral neck shortening.

On admission the patient had hip pain and limited hip internal and external rotation, as well as lower back pain that worsens when bending, scoliosis, knee and ankle pain, inability to squat, abnormal gait. The boy had normal stature. Due to X-ray changes compatible with coxa plana, investigations to rule out MPS were made. The patient did not have corneal clouding. A thoracic and lumbar spine X-ray was performed - the observed changes were suggestive of MPS.

Urine and blood specimens were referred to the National Genetic Laboratory. The patient was found to have elevated GAG levels in his urine. Subsequent enzyme analysis revealed reduced GALNS enzyme activity, and the diagnosis of MPS IVA was made.

Conclusion

The boy was referred to the rheumatologist due to hip and lower back pain. The diagnosis of the classical forms of MPS is relatively easy due to the presence of typical clinical features. Diagnostic delays occur frequently in patients with mild forms of MPS which has an impact on the institution of appropriate therapy as early as possible.

Disclosure of interest

None declared.

Authors’ Affiliations

(1)
Rheumatology, University Children’s Hospital
(2)
Endocrinology and Genetics, University Children's Hospital
(3)
National Genetic Laboratory, University Obstetrics and Gynecology Hospital “Maichin Dom”
(4)
Radiology, University Children’s Hospital
(5)
Endocrinology and Genetics, University Children’s Hospital

Copyright

© Ganeva et al; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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