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


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.


Menkes disease Neurodegenerative Radiographs Child 



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


  1. 1.
    Adams PC, Strand RD, Bresnan MJ et al (1974) Kinky hair syndrome: serial study of radiological findings with emphasis on the similarity to the battered child syndrome. Radiology 112:401–407PubMedGoogle Scholar
  2. 2.
    Stanley PH, Gwinn JL, Sutcliffe J (1976) The osseus abnormalities in Menkes syndrome. Ann Radiol (Paris) 19:167–172PubMedGoogle Scholar
  3. 3.
    Kozlowski K, McCrossin R (1979) Early osseus abnormalities in Menkes’ kinky hair syndrome. Pediatr Radiol 8:191–194CrossRefPubMedGoogle Scholar
  4. 4.
    Aldecoa V, Escofet-Soteras C, Artuch R et al (2008) Menkes disease: its clinical, biochemical and molecular diagnosis. Rev Neurol 46:446–447PubMedGoogle Scholar
  5. 5.
    Kaler SG, Holmes CS, Goldstein DS et al (2008) Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 358:605–614CrossRefPubMedGoogle Scholar
  6. 6.
    Gerdes AM, Tonnesen T, Pergament E et al (1988) Variability in clinical expression of Menkes syndrome. Eur J Pediatr 148:132–135CrossRefPubMedGoogle Scholar
  7. 7.
    Christodoulou J, Danks DM, Sarkar B et al (1998) Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am J Med Genet 76:154–164CrossRefPubMedGoogle Scholar
  8. 8.
    George DH, Casey RE (2001) Menkes disease after copper histidine replacement therapy: case report. Pediatr Dev Pathol 4:281–288CrossRefPubMedGoogle Scholar

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

Personalised recommendations