每日一题_2023.06.13

A 4-year-old boy with a history of mental retardation and seizures is brought to the physician with a three-month history of worsening shortness of breath. During physical examination, the physician notices numerous acne-like papules on the patient’s face. Echocardiography shows significant left ventricular outflow obstruction. Which of the following is the most likely diagnosis for this patient’s heart condition?

一名有精神发育迟滞和癫痫病史的4岁男孩因呼吸急促恶化3个月就诊。体格检查时，医师注意到患者脸上有许多痤疮样丘疹。超声心动图显示明显的左心室流出道梗阻。下列哪项是该患者心脏状况最有可能的诊断?

(A) Dilated cardiomyopathy 扩张型心肌病

(B) Lipoma 脂肪瘤

(C) Myxoma 粘液瘤

(D) Rhabdomyoma 横纹肌瘤

(E) Transposition of the great vessels 大血管错位

答案解析：

结节性硬化症是一种以多核非典型星形胶质细胞结节性增生为特征的遗传疾病(常染色体显性)。这些形成的管子遍布大脑皮层和脑室周围区域。经典三联征仅在最严重的病例中表现，包括癫痫发作、智力障碍和面部血管纤维瘤(也称为皮脂腺瘤)。一半的结节性硬化症患者发展为横纹肌瘤，这是原发性心肌肿瘤，虽然是良性的，但可能损害心脏功能，特别是房室瓣。结节性硬化症也与肾血管平滑肌脂肪瘤有关。

正确答案：D