每日一题_2024.11.02

A 3-year-old boy was brought to the endocrinology department with an 18-month history of bowing of the left leg that had resulted in regression of his ability to walk. On physical examination, there was lateral bowing of the left femur and anterior bowing of the left tibia, as well as testicular enlargement. Café au lait spots were also noted on the lower back, cheek, and neck. Radiographs of the wrist, femur, and tibia on the left side showed fibrous dysplasia (arrows) and rickets. What is the most likely diagnosis in this case?一个3岁的男孩因为左腿弯曲18个月导致行走能力退化，被带到内分泌科。在体格检查中，发现左股骨侧弯和左胫骨前弯，以及睾丸增大。在下背部、脸颊和颈部还发现了牛奶咖啡斑。左手腕、股骨和胫骨的X光片显示纤维性发育不良（箭头所示）和佝偻病。在这种情况下最可能的诊断是什么？

A. Carney complex卡尼复合症

B. Fanconi anemia范可尼贫血

C. McCune–Albright syndrome麦克-阿尔布赖特综合症

D. Neurofibromatosis type 1 (NF1)神经纤维瘤病1型（NF1）

E. Osteofibrous dysplasia骨纤维发育不良

答案解析：

麦克-阿尔布赖特综合症是一种罕见的遗传性疾病，其特征包括多发性骨纤维发育不良、皮肤牛奶咖啡斑和内分泌异常，如性早熟。病例中提到的左股骨侧弯和左胫骨前弯、睾丸增大以及牛奶咖啡斑均与麦克-阿尔布赖特综合症的临床表现相符。此外，该病例中的纤维性发育不良和佝偻病的放射学表现也与麦克-阿尔布赖特综合症的骨骼特征相吻合。因此，根据这些临床表现和放射学特征，麦克-阿尔布赖特综合症是最可能的诊断。

正确答案：C