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

Détails

ID Serval
serval:BIB_63CE7E74D072
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
Périodique
Skeletal Radiology
Auteur⸱e⸱s
Choo H.J., Cho T.J., Song J., Tiller G.E., Lee S.H., Park G., Lee I.S., Lachman R., Superti-Furga A., Kim O.H.
ISSN
1432-2161 (Electronic)
ISSN-L
0364-2348
Statut éditorial
Publié
Date de publication
2012
Volume
41
Numéro
11
Pages
1479-1487
Langue
anglais
Notes
Publication types: Journal ArticlePublication Status: ppublish
Résumé
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.
Pubmed
Web of science
Création de la notice
26/10/2012 18:59
Dernière modification de la notice
20/08/2019 15:20
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