Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients.
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.
Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea.
Hye Jung
HJ
Choo
Tae-Joon
TJ
Cho
Junghan
J
Song
George E
GE
Tiller
Sun Hee
SH
Lee
Gunbo
G
Park
In Sook
IS
Lee
Ralph
R
Lachman
Andrea
A
Superti-Furga
Ok-Hwa
OH
Kim
D000293:Adolescent; D001327:Autoimmune Diseases / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003287:Contrast Media; D004838:Epiphyses / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography
D003287:Contrast Media