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

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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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Authors and Affiliations

  1. Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea

    Hye Jung Choo

  2. Division of Pediatric Orthopaedics, Seoul National University Children’s Hospital, Seoul, Korea

    Tae-Joon Cho

  3. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Kyunggi, Korea

    Junghan Song

  4. Department of Genetics, Southern California Permanente Medical Group, Los Angeles, CA, USA

    George E. Tiller

  5. Department of Pediatrics, Inje University Pusan Paik Hospital, Pusan, Korea

    Sun Hee Lee

  6. Department of Orthopaedic Surgery, Inje University Haeundae Paik Hospital, Pusan, Korea

    Gunbo Park

  7. Department of Radiology, Pusan National University Hospital, Pusan, Korea

    In Sook Lee

  8. Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA

    Ralph Lachman

  9. Department of Pediatrics, University of Lausanne, Lausanne, Switzerland

    Andrea Superti-Furga

  10. Department of Radiology, Ajou University Hospital, 5 Wonchon-dong, Youngtong-gu, Suwon, 443-721, Republic of Korea

    Ok-Hwa Kim

Authors
  1. Hye Jung Choo
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  2. Tae-Joon Cho
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  3. Junghan Song
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  4. George E. Tiller
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  5. Sun Hee Lee
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  6. Gunbo Park
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  7. In Sook Lee
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  8. Ralph Lachman
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  9. Andrea Superti-Furga
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  10. Ok-Hwa Kim
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Corresponding author

Correspondence to Ok-Hwa Kim.

Additional information

Hye Jung Choo and Tae-Joon Cho contributed equally to this work.

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Choo, H.J., Cho, TJ., Song, J. et al. Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients. Skeletal Radiol 41, 1479–1487 (2012). https://doi.org/10.1007/s00256-012-1442-1

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  • DOI: https://doi.org/10.1007/s00256-012-1442-1

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