Koh K K, Lee J H, Sohn D W, Oh B H, Park Y B, Choi Y S, Seo J D, Lee Y W, Park J H
Korean J Intern Med. 1988 Jul;3(2):142-7. doi: 10.3904/kjim.1988.3.2.142.
An 18-year-old male was admitted to Seoul National University Hospital for the evaluation of fever and chill on February 3, 1988. On physical examination, his face showed a characteristic “elfin” facial appearance. His face was characterized by abnormalities of dental development, a broad overhanging upper lip, high arched palate and gum hypertrophy. He also showed mental retardation. Cardiac catheterization with selective cineangiocardiography demonstrated a supravalvular aortic narrowing, grade 2 aortic insufficiency, and moderately dilated proximal coronary arteries with normal distribution without an intraluminal narrowing. There was a systolic pressure gradient (55mmHg) between the aortic root and ascending aorta distal to a stenotic segment. MRI showed a supravalvular aortic stenosis. Vegetation was not found on echocardiograpghy. Unidentified G(−) rods were isolated in 3 out of 9 bottles in blood culture test. He was treated with Na-penicillin and gentamicin for 28 days.
1988年2月3日，一名18岁男性因发热和寒战入住首尔国立大学医院进行评估。体格检查时，他的面部呈现出典型的“小精灵”面容。其面部特征为牙齿发育异常、上唇宽阔且悬垂、腭弓高拱以及牙龈肥大。他还存在智力发育迟缓。选择性电影心血管造影的心脏导管检查显示有主动脉瓣上狭窄、2级主动脉瓣关闭不全，以及近端冠状动脉中度扩张，分布正常，管腔内无狭窄。在狭窄段远端的主动脉根部和升主动脉之间存在收缩期压力阶差（55mmHg）。磁共振成像显示为主动脉瓣上狭窄。超声心动图未发现赘生物。血培养检查中，9瓶中有3瓶分离出未鉴定的革兰氏阴性杆菌。他接受了28天的青霉素钠和庆大霉素治疗。
