Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria

Abstract

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA) (OMIM 614875) is a severe chondrodysplasia combined with a urinary excretion of D-2-hydroxyglutaric acid. Here, we reported the tenth case of this disease. A 15-year-old boy had symmetric radiolulencies in the metaphyses of the long bones suggesting enchondromatosis and platyspondyly. Remarkably, he manifested widespread cavernous hemangiomas including scalp, lips, tongue, larynx, and prepuce, with the onset of 3 years of age. Hemangiomas at the larynx had caused dyspnea and those in the oral cavity led to recurrent bleeding, requiring several surgical removals. These multiple and debilitating hemangiomas have never been previously reported in patients with MC-HGA. Mutation analyses including Sanger sequencing of genes involving in enchondromatosis and the metabolic pathway of D-2-hydroxyglutarate including PTHR1, D2HGDH, HOT, and IDH1, as well as whole-exome sequencing for proband-parent trio analysis and paired blood versus hemangioma studies showed no pathogenic variants. In summary, we reported the tenth patient with MC-HGA who manifested widespread and debilitating hemangiomas in several organs, expanding the clinical spectrum of MC-HGA.

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Acknowledgements

We are grateful to Professor Dr. Cornelis Jakobs from the VU University Medical Center, Amsterdam, The Netherlands, for the D-2-HGA analyses. This study was supported by Royal Golden Jubilee Advanced Program under Grant No. RAP59K0008, Thailand Research Fund (DPG6180001) and the Chulalongkorn Academic Advancement into Its 2nd Century Project.

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Correspondence to Patra Yeetong.

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Yeetong, P., Phewplung, T., Kamolvisit, W. et al. Widespread and debilitating hemangiomas in a patient with enchondromatosis and D-2-hydroxyglutaric aciduria. Skeletal Radiol 47, 1577–1582 (2018). https://doi.org/10.1007/s00256-018-2963-z

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Keywords

  • Metaphyseal chondromatosis
  • D-2-Hydroxyglutaric aciduria