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Skeletal Radiology

, Volume 47, Issue 11, pp 1577–1582 | Cite as

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

  • Patra Yeetong
  • Teerasak Phewplung
  • Wuttichart Kamolvisit
  • Kanya Suphapeetiporn
  • Vorasuk Shotelersuk
Case Report

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.

Keywords

Metaphyseal chondromatosis D-2-Hydroxyglutaric aciduria 

Notes

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.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

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Copyright information

© ISS 2018

Authors and Affiliations

  • Patra Yeetong
    • 1
  • Teerasak Phewplung
    • 2
  • Wuttichart Kamolvisit
    • 3
    • 4
  • Kanya Suphapeetiporn
    • 3
    • 4
  • Vorasuk Shotelersuk
    • 3
    • 4
  1. 1.Division of Human Genetics, Department of Botany, Faculty of ScienceChulalongkorn UniversityBangkokThailand
  2. 2.Department of Radiology, Faculty of MedicineChulalongkorn UniversityBangkokThailand
  3. 3.Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of MedicineChulalongkorn UniversityBangkokThailand
  4. 4.Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross SocietyBangkokThailand

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