每日一题_2023.04.12

A 3-year-old boy is brought to the pediatrician because of decreased vision and pain in his right eye. Past medical history is significant for the diagnosis of glaucoma shortly after birth that has been refractory to standard medical therapies. Focused physical examination reveals iris hamartomas. Which of the following additional signs is most likely on physical examination?

一个3岁的男孩因为右眼视力下降和疼痛被带到儿科医生那里。过去的病史对于诊断出生后不久的青光眼是重要的，标准的药物治疗是难治的。聚焦体格检查发现虹膜错构瘤。以下哪一种额外的症状在身体检查中最有可能出现?

(A) Bilateral acoustic neuromas双侧听神经瘤

(B) Bilateral renal cell carcinomas 双侧肾细胞癌

(C) Cystic medial necrosis of the aorta 主动脉囊性内侧坏死

(D) Leptomeningeal angioma轻脑膜血管瘤

(E) Scoliosis脊柱侧凸

答案解析：

该患者表现出1型神经纤维瘤病(也称为冯-雷克灵豪森病)的几个典型特征。潜在的发现包括café au lait斑点，两个或多个神经纤维瘤，视神经胶质瘤，虹膜错构瘤(李氏结节)，阳性家族史(常染色体显性遗传)，以及独特的骨性病变，如蝶骨发育不良或脊柱侧凸。这种疾病的患者通常在8岁时达到95%的标准，在20岁时达到所有标准。这些患者患肿瘤的风险也会增加。该基因位于17号染色体的长臂上。

正确答案：E