Title:Mazabraud's Syndrome: A Case Report and Up-To-Date Literature Review
VOLUME: 19 ISSUE: 6
Author(s):Fabio Vescini*, Alberto Falchetti, Veronica Tonelli, Maria Carpentieri, Claudia Cipri, Roberta Cosso, Elda Kara, Vincenzo Triggiani and Franco Grimaldi
Affiliation:Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, EndOsmet, Villa Donatello Private Hospital, 50100 Florence, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, EndOsmet, Villa Donatello Private Hospital, 50100 Florence, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine, Interdisciplinary Department of Medicine-Section of Internal Medicine, Geriatrics, Endocrinology and Rare Diseases, University of Bari "Aldo Moro", School of Medicine, 70100 Bari, Endocrinology and Metabolism Unit, University-Hospital S. Maria della Misericordia of Udine, 33100 Udine
Keywords:Mazabraud's syndrome, fibrous dysplasia, intramuscular myxoma, zoledronic acid, GNAS1 gene mutations, benign
mesenchymal neoplasms.
Abstract:
Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with
intramuscular myxomas. Fibrous dysplasia, is generally localized to pelvis and femur and it results in a
fragile bone with deformities, pain, pathological fractures and functional impairment. Intramuscular
myxomas, are rare benign mesenchymal neoplasms that exceptionally may evolve to malignant forms.
Methods: This case report describes a 66-year-old woman with Mazabraud’s Syndrome (MS), characterized
both by monostotic right femur fibrous dysplasia and by a solitary intramuscular myxoma at the
right quadriceps muscle, that underwent a long-term treatment (4 years) with intravenous zoledronic
acid.
Results: Zoledronic acid therapy rapidly lowered bone pain together with a reduction of intramuscular
myxoma volume, but did not affect the extension of fibrous dysplasia. No adverse effects have been
observed during treatment.
Conclusion: Highly active bisphosphonates are commonly used for the treatment of bone metabolic
disorders and they are generally well tolerated. Zoledronic acid may represent a promising alternative
to surgical intervention in MS, although its use in rare form of bone fibrous dysplasias is still controversial.
