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

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.

• Authors: Hye Jung Choo, Tae-Joon Cho, Junghan Song, George E Tiller, Sun Hee Lee, Gunbo Park, In Sook Lee, Ralph Lachman, Andrea Superti-Furga, Ok-Hwa Kim
• Journal: Skeletal radiology (Skeletal Radiol) Vol. 41 Issue 11 Pg. 1479-87 (Nov 2012) ISSN: 1432-2161 [Electronic] Germany
• PMID: 22639207 (Publication Type: Case Reports, Journal Article)

Chemical References

• Contrast Media

Topics

• Adolescent
• Autoimmune Diseases (complications, diagnostic imaging, pathology)
• Brain Diseases, Metabolic, Inborn (complications, pathology)
• Child
• Child, Preschool
• Contrast Media
• Epiphyses (diagnostic imaging, pathology)
• Humans
• Magnetic Resonance Imaging
• Male
• Osteochondrodysplasias (complications, diagnostic imaging, pathology)
• Radiography