Skeletal Radiology

, Volume 29, Issue 5, pp 289–292 | Cite as

D-2-hydroxyglutaric aciduria in association with spondyloenchondromatosis

  • I. S. Talkhani
  • J. Saklatvala
  • J. Dwyer
Case Report

Abstract 

D-2-hydroxyglutaric aciduria is a rare metabolic disorder, first reported in 1980, and does not yet have a clinically specific presentation pattern nor any specific treatment regime. We report a girl born with this uncommon metabolic disorder, who, at the age of 12 months, was also found to have a severe crippling form of skeletal dysplasia, spondyloenchondromatosis.

Key words D-2-hydroxyglutaricaciduria Spondyloenchondromatosis Skeletal dysplasia Hydroxyglutaric aciduria Ollier’s disease 

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Copyright information

© International Skeletal Society 2000

Authors and Affiliations

  • I. S. Talkhani
    • 1
  • J. Saklatvala
    • 1
  • J. Dwyer
    • 1
  1. 1.Hartshill Orthopaedic Centre, Stoke-on-Trent, UKGB

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