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

Authors
Choo, HJ; Cho, TJ; Song, J; Tiller, GE; Lee, SH; Park, G; Lee, IS; Lachman, R; Superti-Furga, A; Kim, OH
Citation
Skeletal radiology, 41(11):1479-1487, 2012
Journal Title
Skeletal radiology
ISSN
0364-23481432-2161
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.
MeSH terms
AdolescentAutoimmune Diseases/*complications/pathology/radiographyBrain Diseases, Metabolic, Inborn/*complications/pathologyChildChild, PreschoolContrast Media/diagnostic useEpiphyses/*pathology/radiographyHumansMagnetic Resonance ImagingMaleOsteochondrodysplasias/*complications/pathology/radiography
DOI
10.1007/s00256-012-1442-1
PMID
22639207
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Radiology
AJOU Authors
김, 옥화
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