Board Review case 8：Osteopetrosis 骨硬化症

致谢：该病例来自auntminnie Board Review——Musculoskeletal

翻译：赵文韬   江门市中心医院 放射科

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A 51-year-old male presents with chest pain. A CT scan of the chest and abdomen was performed. Sagittal image is shown. A recent left lower extremity radiograph also is shown.

51岁，男性，胸痛。行胸部和腹部CT检查。如图所示为CT矢状位图像，以及近期左膝关节正位X线片。

What is the diagnosis?

A．Osteomalacia

B．Osteogenesis imperfecta

C．Hyperparathyroidism

D．Osteopetrosis

E．Fanconi syndrome

诊断是什么？

A．骨软化症

B．成骨不全症

C．甲状旁腺功能亢进

D．骨硬化症

E．范科尼综合征

Correct answer：D

Explanation:

There is marked increased sclerosis of the femur and tibia with evidence of prior fracture. The CT image demonstrates increased sclerosis of the end plates with sharp demarcation, or sandwich vertebra. These findings are compatible with osteopetrosis.

Osteomalacia presents with decreased mineralization. Osteogenesis imperfecta demonstrates osteopenia with gracile bones. Hyperparathyroidism may present with osteopenia, brown tumors, and subperiosteal resorption. The rugger-jersey spine seen in hyperparathyroidism demonstrates less distinct and less dense sclerosis of the end plates. Fanconi syndrome is a cause of osteomalacia.

正确答案：D

解析：在之前有骨折的情况下，股骨和胫骨的硬化明显增加。CT图像显示锥体终板硬化增加，界限清晰，或夹心椎体。这些征象与骨硬化症相符。

骨软化症表现为骨基质矿化减少。成骨不全症表现为骨质疏松并骨质细长。甲状旁腺功能亢进可表现为骨质疏松、棕色瘤和骨膜下骨吸收。甲状旁腺功能亢进症患者的橄榄球衣样脊柱（肾性骨病）显示锥体终板硬化不明显且密度较低。范科尼综合征是骨软化症的原因之一。