Case Report

Skeletal Radiology

, Volume 41, Issue 11, pp 1479-1487

First online:

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

  • Hye Jung ChooAffiliated withDepartment of Radiology, Inje University Pusan Paik Hospital
  • , Tae-Joon ChoAffiliated withDivision of Pediatric Orthopaedics, Seoul National University Children’s Hospital
  • , Junghan SongAffiliated withDepartment of Laboratory Medicine, Seoul National University Bundang Hospital
  • , George E. TillerAffiliated withDepartment of Genetics, Southern California Permanente Medical Group
  • , Sun Hee LeeAffiliated withDepartment of Pediatrics, Inje University Pusan Paik Hospital
  • , Gunbo ParkAffiliated withDepartment of Orthopaedic Surgery, Inje University Haeundae Paik Hospital
  • , In Sook LeeAffiliated withDepartment of Radiology, Pusan National University Hospital
  • , Ralph LachmanAffiliated withMedical Genetics Institute, Cedars-Sinai Medical Center
  • , Andrea Superti-FurgaAffiliated withDepartment of Pediatrics, University of Lausanne

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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.