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Whole-body MRI in the childhood form of hypophosphatasia

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Abstract

Hypophosphatasia (HPP) is a rare inborn error of bone metabolism caused by various defects in the gene coding for the tissue-nonspecific alkaline phosphatase (TNSAP). It results in a reduced activity of the TNSAP and elevated concentrations of its substrates, including inorganic pyrophosphate. Clinical features of HPP include defective bone mineralisation with bone deformities, fractures and chronic non-bacterial osteomyelitis. Renal damage due to calcification, craniosynostosis and dental abnormalities with premature loss of dentition are further complications. Until now, detailed descriptions of whole-body magnetic resonance imaging (WB-MRI) in HPP do not exist. Here, we analysed WB-MRIs of 4 children with the childhood form of HPP. Deformities and defects of the long bones could be seen. All patients showed radiological lesions in the metaphyses of the long bones predominantly in the lower extremities being consistent with hyperaemia and oedema. Differential diagnosis includes an inflammatory process being active in these locations.

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Acknowledgments

We are very thankful to Etienne Mornet for performing the genetic analysis in patients 1, 2 and 3.

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Author notes

  1. H. J. Girschick

    Present address: Pediatric Rheumatology, Immunology and Infectious Diseases, Vivantes Children`s Hospital, Berlin-Friedrichshain, Germany

Authors and Affiliations

  1. Section of Pediatric Rheumatology, Osteology, Immunology and Infectious Diseases, Children’s Hospital, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany

    C. Beck, H. Morbach & H. J. Girschick

  2. Department of Pediatric Radiology, Institute of Radiology, University of Würzburg, Josef-Schneider-Strasse 2, Würzburg, 97080, Germany

    C. Wirth & M. Beer

  3. Funktionsbereich Pädiatrische Rheumatologie, Immunologie und Osteologie, Kinderklinik und Poliklinik, Universität Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany

    C. Beck

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  1. C. Beck
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  2. H. Morbach
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Correspondence to C. Beck.

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Beck, C., Morbach, H., Wirth, C. et al. Whole-body MRI in the childhood form of hypophosphatasia. Rheumatol Int 31, 1315–1320 (2011). https://doi.org/10.1007/s00296-010-1493-3

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  • DOI: https://doi.org/10.1007/s00296-010-1493-3

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