PDF(Pubmed)
Abstract：
Mazabraud\'s syndrome represents rare benign disorder characterized by simultaneous occurrence of fibrous dysplasia of bone and intramuscular myxomas within surrounding soft tissue. Mutations of GNAS1 gene were proven to be causative for this condition. Here, we present a case report of a patient with unusual manifestation of this disease, who developed a pathological fracture of the femur in the setting of monostotic fibrous dysplasia. The intramuscular myxoma of the thigh was discovered during the following orthopedic operation, where the intraoperative diagnosis became a pitfall of the case, as the intramuscular myxoma was initially diagnosed as a low-grade sarcoma from the frozen section. Apart from clinical findings, the diagnosis of Mazabraud\'s syndrome was further proven by histopathological evaluation and molecular studies of GNAS1 gene. This case raises awareness of such condition as it can easily become a diagnostic pitfall.
摘要：
Mazabraud综合征代表罕见的良性疾病，其特征是同时发生骨纤维异常增生和周围软组织内的肌内粘液瘤。GNAS1基因的突变被证明是导致这种情况的原因。这里,我们提供了一个病例报告，该患者具有这种疾病的异常表现，在单骨纤维发育不良的情况下发生了股骨病理性骨折。在随后的骨科手术中发现了大腿的肌内粘液瘤，术中诊断成为病例的陷阱，因为肌内粘液瘤最初被诊断为冷冻切片的低度肉瘤。除了临床发现,组织病理学评估和GNAS1基因的分子研究进一步证实了Mazabraud综合征的诊断。这种情况提高了人们对这种情况的认识，因为它很容易成为诊断陷阱。
