CASE REPORT
Osteo-articular manifestation of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
Online publication date: 2011-08-30
Reumatologia 2011;49(4):288-293
KEYWORDS
mucopolysaccharidosis type VIMaroteaux-Lamy syndromejoint stiffnessprogressive limitation of joint mobilitydysostosis multiplex
ABSTRACT
Authors present a case of 38-year-old woman, of whom the first symptoms of the disease were poor exercise tolerance, increasing limitation of motion in the shoulder, elbow and hip joints and bone pain. At the age of 37, the patient presented rapid cardiac symptoms (significantly decreased physical activity tolerance, dyspnea, generalized fatigue). A typical result of heart ultrasound examination together with radiologic features (dysostosis multiplex) suggested mucopolysaccharidosis. Mucopolysaccharidosis type VI (MPS VI) was confirmed by a screening test which revealed the presence of dermatan sulphate and enzyme assay with significantly decreased activity of arylsulfatase B (ARSB). The patient represents relatively attenuated MPS VI with osteo-articular and cardiac changes (Table I, II, Figure 1, 2).
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Copyright: © Narodowy Instytut Geriatrii, Reumatologii i Rehabilitacji w Warszawie. This is an Open Access journal, all articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0) License (https://creativecommons.org/licenses/by-nc-sa/4.0/), allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material, provided the original work is properly cited and states its license.
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