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Pediatric Radiology

, Volume 40, Issue 8, pp 1426–1429 | Cite as

Long-term skeletal findings in Menkes disease

  • Eva Amador
  • Ruth Domene
  • Cristian Fuentes
  • Juan-Carlos CarreñoEmail author
  • Goya Enríquez
Case Report

Abstract

Skeletal findings in infants with Menkes disease, the most characteristic of which are metaphyseal spurs, long-bone fractures and wormian bones, have been widely reported. However, the changes in skeletal features over time are not well known. The long-term findings differ completely from those initially observed and consist of undertubulation and metaphyseal flaring, similar to the findings seen in some types of bone dysplasia. The initial and long-term radiological features in an 8-year-old boy with Menkes disease are illustrated.

Keywords

Menkes disease Neurodegenerative Radiographs Child 

Notes

Acknowledgements

We thank Christine O’Hara for her help with the English version of the manuscript and Natalie Shur for her support in its preparation.

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Eva Amador
    • 1
  • Ruth Domene
    • 2
  • Cristian Fuentes
    • 2
  • Juan-Carlos Carreño
    • 2
    Email author
  • Goya Enríquez
    • 2
  1. 1.Department of Paediatric RadiologySon Dureta Children’s HospitalPalma de MallorcaSpain
  2. 2.Department of Paediatric RadiologyVall d’Hebron Children’s HospitalBarcelonaSpain

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