Document Detail

Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
MedLine Citation:
PMID:  22639207     Owner:  NLM     Status:  Publisher    
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.
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
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-26
Journal Detail:
Title:  Skeletal radiology     Volume:  -     ISSN:  1432-2161     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-28     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7701953     Medline TA:  Skeletal Radiol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea.
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