CASE REPORT Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients 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 Received: 12 March 2012 / Revised: 2 May 2012 / Accepted: 3 May 2012 / Published online: 26 May 2012 # ISS 2012 Abstract We report four patients who presented with a se- vere 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 neuro- metabolic 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 abnormal- ities 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. Introduction In 2000, Talkhani et al. [1] first reported spondyloenchon- dromatosis in association with D-2-hydroxyglutaric aciduria (D-2-HGA). Subsequently, two more cases were reported with similar findings [2, 3]. In spite of the extremely rare reports in the literature, a unique combination of skeletal and metabolic abnormalities led to the recognition of this Hye Jung Choo and Tae-Joon Cho contributed equally to this work. H. J. Choo Department of Radiology, Inje University Pusan Paik Hospital, Pusan, Korea T.-J. Cho Division of Pediatric Orthopaedics, Seoul National University Children’ s Hospital, Seoul, Korea J. Song Department of Laboratory Medicine, Seoul National University Bundang Hospital, Kyunggi, Korea G. E. Tiller Department of Genetics, Southern California Permanente Medical Group, Los Angeles, CA, USA S. H. Lee Department of Pediatrics, Inje University Pusan Paik Hospital, Pusan, Korea G. Park Department of Orthopaedic Surgery, Inje University Haeundae Paik Hospital, Pusan, Korea I. S. Lee Department of Radiology, Pusan National University Hospital, Pusan, Korea R. Lachman Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA A. Superti-Furga Department of Pediatrics, University of Lausanne, Lausanne, Switzerland O.-H. Kim (*) Department of Radiology, Ajou University Hospital, 5 Wonchon-dong, Youngtong-gu, Suwon 443-721, Republic of Korea e-mail: kimoh@ajou.ac.kr Skeletal Radiol (2012) 41:1479–1487 DOI 10.1007/s00256-012-1442-1