每日一题_2023.04.30

A 3-year-old boy is brought to his pediatrician because of worsening cough and rhinorrhea. His parents state that he has had multiple similar episodes over the past year with two brief hospitalizations for pneumonia. Physical examination of the skin reveals the lesion seen in the image. Laboratory tests show very low serum levels of IgA. Which of the following is most likely to also be seen in this child?

一名3岁男孩因咳嗽和流涕恶化被带到儿科医师处。他的父母说，在过去的一年里，他有过多次类似的发作，两次因肺炎短暂住院。皮肤体格检查显示图像中所见的病变。实验室检查显示血清IgA水平极低。以下哪一项最可能也在这个孩子身上出现?

(A) A noninflamed skin abscess 非炎症性皮肤脓肿

(B) A repaired cleft palate 修复的腭裂

(C) Frequent falls 经常跌倒

(D) Skin granulomas 皮肤肉芽肿

(E) Visual hallucinations 视觉幻觉

答案解析：

图中显示的蜘蛛痣，常见于共济失调毛细血管扩张症患者的耳朵和脸颊。共济失调毛细血管扩张症是一种由染色体11q22-23突变引起的常染色体隐性疾病，该突变导致DNA修复酶的缺陷。它表现为不同的组合，包括进行性神经损害，小脑共济失调，免疫缺陷(通常是IgA缺陷)易患窦肺感染，器官发育不全，x线超敏反应，眼和皮肤毛细血管扩张，以及易患恶性肿瘤。

正确答案：C