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.