Fourie Jacques, Suleman Farhana, Lockhat Zarina, Kollapen Kumeshnie
Department of Radiology, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.
Department of Radiology, Faculty of Health Sciences, Steve Biko Academic Hospital, Pretoria, South Africa.
SA J Radiol. 2024 May 23;28(1):2877. doi: 10.4102/sajr.v28i1.2877. eCollection 2024.
Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
骨纤维发育不良（FD）是一种罕见的、非遗传性的先天性骨疾病，可为单骨型或多骨型。多骨型在与骨骼外表现相关时，很少以综合征形式出现。马扎布罗德综合征是一种罕见的综合征，由伴有肌内黏液瘤的多骨型FD组成。McCune-Albright综合征以多骨型FD、性早熟和“咖啡牛奶斑”为特征。本报告描述了一名患有马扎布罗德综合征的成年患者和一名患有McCune-Albright综合征的儿童。
影像学表现典型，有弓形畸形、硬化、透亮或混合性病变以及骨质膨胀，常伴有骨内膜扇贝样改变。MRI通常无诊断价值，实际上可能会模拟更具侵袭性的病变过程。早期发现和正确诊断有助于早期进行预防性治疗和康复，以预防严重的神经后遗症和残疾。
