Shrivastava Trilok, Hwang Jessica L, Munshi Laishiya, Batra Kumar Kunnal, Ahuja Kriti
John H. Stroger Hospital of Cook County, Chicago, IL, USA.
Rush University Medical Center, Chicago, IL, USA.
Radiol Case Rep. 2021 Feb 17;16(4):989-993. doi: 10.1016/j.radcr.2021.02.002. eCollection 2021 Apr.
A 46-year-old Asian male with history of atraumatic fracture of femur (requiring the use of a walker), muscle cramps and loosening teeth presents to Endocrine clinic. He had elevated parathyroid hormone, severely low phosphorus, elevated bone-specific ALP, with normal serum and urine calcium. He was found to have elevated FGF 23 levels, but initial functional and anatomic imaging was negative for any localizing tumor. With persistent follow-up and serial imaging, after 3 years, a 2.2 cm right scapular mass was found on MRI. Since it was also visualized on PET/CT, this was suspected to be the cause of his severe hypophosphatemia. He underwent surgical excision and pathology revealed a phosphaturic mesenchymal tumor after excision. Tumor induced osteomalacia is a rare, acquired paraneoplastic syndrome in which a tumor that secretes FGF23 leads to decreased renal phosphate reabsorption, resulting in hypophosphatemia, and bone demineralization. Diagnosis is challenging as common presenting symptoms are nonspecific, but when followed up closely with proper diagnostic modalities, identification & removal of the culprit lesion is usually curative.
一名46岁的亚洲男性，有非创伤性股骨骨折病史（需要使用助行器）、肌肉痉挛和牙齿松动，前来内分泌诊所就诊。他的甲状旁腺激素升高，磷严重降低，骨特异性碱性磷酸酶升高，血清和尿钙正常。发现他的成纤维细胞生长因子23（FGF 23）水平升高，但最初的功能和解剖成像未发现任何定位肿瘤。经过持续随访和系列成像，3年后，磁共振成像（MRI）发现右肩胛骨有一个2.2厘米的肿块。由于在正电子发射断层显像/X线计算机体层成像（PET/CT）上也能看到，怀疑这是他严重低磷血症的原因。他接受了手术切除，术后病理显示为切除性磷尿性间叶肿瘤。肿瘤性骨软化症是一种罕见的获得性副肿瘤综合征，其中分泌FGF23的肿瘤导致肾磷酸盐重吸收减少，从而导致低磷血症和骨质脱矿。由于常见的症状不具特异性，诊断具有挑战性，但通过适当的诊断方法密切随访时，识别并切除罪魁祸首病变通常可治愈。
