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Mucolipidosis II: correlation between radiological features and histopathology of the bones

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Abstract

Twelve cases of Mucolipidosis II (I-cell disease) with a wide range of severity of skeletal involvement were studied. Pathological findings in two cases provided helpful information in understanding the radiographic features of dysostosis multiplex. Inhibition of the growth plate cartilage calcification and rickets-like lesions were observed in the metaphyses. Enhanced subperiosteal remodelling and paratrabecular fibrosis were also evident in the diaphyses. High levels of parathormone were found in one case. This finding supports the hypothesis that bone lesions may be secondary, at least in part, to damage in such viscera as the kidney and/or the liver and that they are mediated by vitamin D and parathormone.

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Authors and Affiliations

  1. Clinica Pediatrica, Università di Pavia, Italy

    E. Bianchi & A. Marchi

  2. Servizio di Radiodiagnostica, IRCCS Policlinico S. Matteo, Pavia, Italy

    G. Beluffi

  3. Children's Hospital, Denver, Colorado, USA

    J. B. Campbell

  4. Istituto di Radiologia, Università Cattolica Sacro Cuore, Roma, Italy

    N. Colavita

  5. Hopital des Enfants, Bordeaux, France

    F. Diard

  6. Servizio di Radiologia, Ospedale Pediatrico Bambino Gesù, Roma, Italy

    P. Gugliantini

  7. Kinderkrankenhaus Sankt Nikolaus, Ravensburg, FRG

    U. Hirche

  8. Royal Alexandra Hospital for Children, Australia

    K. Kozlowski

  9. Prince of Wales Hospital, Sydney, Australia

    V. Nayanar

  10. Divisione di Pediatria, Servizio di Neonatologia, Ospedale S.Anna, Como, Italy

    G. Pagani

  11. Clinica Ortopedica dell'Università di Pavia, Via Taramelli, I-27100, Pavia, Italy

    U. E. Pazzaglia

Authors
  1. U. E. Pazzaglia
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  2. G. Beluffi
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  3. J. B. Campbell
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  4. E. Bianchi
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  5. N. Colavita
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  6. F. Diard
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  7. P. Gugliantini
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  8. U. Hirche
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  9. K. Kozlowski
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  10. A. Marchi
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  11. V. Nayanar
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  12. G. Pagani
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Pazzaglia, U.E., Beluffi, G., Campbell, J.B. et al. Mucolipidosis II: correlation between radiological features and histopathology of the bones. Pediatr Radiol 19, 406–413 (1989). https://doi.org/10.1007/BF02387638

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  • DOI: https://doi.org/10.1007/BF02387638

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