Skeletal Radiology

, Volume 41, Issue 11, pp 1479–1487

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients

Authors

  • Hye Jung Choo
    • Department of RadiologyInje University Pusan Paik Hospital
  • Tae-Joon Cho
    • Division of Pediatric OrthopaedicsSeoul National University Children’s Hospital
  • Junghan Song
    • Department of Laboratory MedicineSeoul National University Bundang Hospital
  • George E. Tiller
    • Department of GeneticsSouthern California Permanente Medical Group
  • Sun Hee Lee
    • Department of PediatricsInje University Pusan Paik Hospital
  • Gunbo Park
    • Department of Orthopaedic SurgeryInje University Haeundae Paik Hospital
  • In Sook Lee
    • Department of RadiologyPusan National University Hospital
  • Ralph Lachman
    • Medical Genetics InstituteCedars-Sinai Medical Center
  • Andrea Superti-Furga
    • Department of PediatricsUniversity of Lausanne
    • Department of RadiologyAjou University Hospital
Case Report

DOI: 10.1007/s00256-012-1442-1

Cite this article as:
Choo, H.J., Cho, T., Song, J. et al. Skeletal Radiol (2012) 41: 1479. doi:10.1007/s00256-012-1442-1

Abstract

We report four patients who presented with a severe form of metaphyseal chondromatosis in association with D-2-hydroxyglutaric aciduria (D-2-HGA). All patients showed splaying columns of irregular ossification defects with bulbous metaphyses of the long tubular bones, as well as remarkable involvement of the short tubular and flat bones. The vertebral bodies revealed platyspondyly with irregular, stippled endplates. D-2-HGA has been described as a neurometabolic disorder manifesting a broad range of impairment in mental and motor development. Although hydroxyglutaric acid was excreted in high amounts in the urine of all four patients described herein, no significant neurologic abnormalities were evident. This unusual combination of characteristic skeletal and metabolic abnormalities has rarely been reported. Thus, our report will facilitate the recognition of this distinctive entity, and we suggest that a urine organic acid screening be obtained in patients who present with generalized enchondromatosis.

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