Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium
Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium
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DOI：
10.1002/ajmg.a.61448
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发表时间：
2020-01-11
影响因子：
2
通讯作者：
Miura, Masaru
中科院分区：
文献类型：
--
作者：
Akahoshi, Shogo;Hirano, Akinori;Miura, Masaru
1例KRAS基因突变的12岁女性心面部皮肤综合征患者在超声检查中出现心包积液，后来证实为乳糜性心包积液，经淋巴管造影术后消退。我们在这里讨论了这一罕见病例的病理生理背景和淋巴管造影术在乳糜心包的治疗中的效果。
A 12-year-old female patient with cardiofaciocutaneous syndrome in the presence of a KRAS gene mutation had episodes of pericardial effusion on ultrasound, later confirmed to be chylopericardium, which resolved after a lymphangiography. We discussed herein the pathophysiological background of this rare case and the efficacy of lymphangiography in the treatment of chylopericardium.