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Case Reports in Medicine
Volume 2013, Article ID 891596, 4 pages
http://dx.doi.org/10.1155/2013/891596
Case Report

Bisphosphonate Treatment in a Patient Affected by MPS IVA with Osteoporotic Phenotype

1Metabolic Diseases and Clinical Genetics Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy
2Department of Clinical Sciences, Polytechnic University of Marche, Azienda Ospedali Riuniti, Via Conca 71, 60126 Ancona, Italy
3Radiology Unit, Children’s Hospital Giovanni XXIII, Via Amendola 207, 70126 Bari, Italy
4Department of Molecular Medicine and Medical Biotechnologies, University of Naples Federico II, Zona Ospedaliera, Via Pansini 5, 80131 Naples, Italy

Received 13 June 2013; Accepted 8 October 2013

Academic Editor: Indraneel Bhattacharyya

Copyright © 2013 Albina Tummolo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisystemic involvement and have a short life expectancy. Attenuated forms with clinical features limited to minor skeletal abnormalities and short stature have also been described, sometimes associated to an early-onset osteoporotic phenotype. No treatment with allogenic bone marrow transplantation or gene therapy is currently available for Morquio A syndrome, and enzyme replacement therapy is under evaluation. We report a case of MPS IVA, who manifested tardily attenuated phenotype and significant bone mass reduction, which was treated with a bisphosphonate (BPN), resulting in an improvement of X-ray skeletal aspects and functional bone performance. We suggest that the use of bisphosphonates may be an interesting supportive therapeutic option for Morquio A patients with osteoporotic phenotype, but further studies involving more patients are necessary to confirm our findings.