Raus Iulian, Coroiu Roxana Elena
Department of Radiology, Dr. Constantin Papilian Military and Emergency Hospital, Cluj-Napoca, Romania.
Department of Radiology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
Clujul Med. 2016;89(4):559-564. doi: 10.15386/cjmed-624. Epub 2016 Oct 20.
McCune-Albright syndrome is a rare sporadic disease characterized by bone fibrous dysplasia, café-au-lait skin spots and a variable association of hyperfunctional endocrine disorders. Fibrous dysplasia (FD), which can involve the craniofacial, axial, and appendicular skeleton, may range from an isolated, asymptomatic monostotic lesion to a severe disabling polyostotic disease involving the entire skeleton. A twenty-five-year old male patient presented to our clinic with recently developed heart palpitations. He had also been feeling pain in the right femur since he was younger, without any trauma history, leading to difficulties of ambulation and limping occasionally. His physical examination revealed café-au-lait spots with irregular borders and right testicular agenesis. Laboratory findings identified hyperthyroidism with hyperparathyroidism. Radiographs of the pelvis revealed multiple lytic lesions of the right femur and magnetic resonance imaging (MRI) characterized these lesions as specific to fibrous dysplasia of the bone, without any insufficiency fracture at this level. The association of café-au-lait skin spots with bone fibrous dysplasia, and hyperthyroidism in this patient suggested the diagnosis of McCune - Albright syndrome.
McCune - Albright综合征是一种罕见的散发性疾病，其特征为骨纤维发育不良、咖啡斑皮肤斑点以及多种功能性内分泌紊乱。纤维发育不良（FD）可累及颅面骨、中轴骨和四肢骨骼，范围从孤立的无症状单骨病变到累及整个骨骼的严重致残性多骨疾病。一名25岁男性患者因近期出现心悸前来我院就诊。他自幼右股骨就一直疼痛，无任何外伤史，导致行走困难且偶尔跛行。体格检查发现边界不规则的咖啡斑以及右侧睾丸发育不全。实验室检查结果显示患有甲状腺功能亢进和甲状旁腺功能亢进。骨盆X线片显示右股骨有多个溶骨性病变，磁共振成像（MRI）将这些病变特征化为特定的骨纤维发育不良，在此层面无任何应力性骨折。该患者咖啡斑皮肤斑点与骨纤维发育不良及甲状腺功能亢进的关联提示了McCune - Albright综合征的诊断。
