Slavotinek A M, Vacha S J, Peters K F, Biesecker L G
Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.
Clin Genet. 2000 Nov;58(5):386-9. doi: 10.1034/j.1399-0004.2000.580509.x.
We report 3 patients with Proteus syndrome (PS) who died suddenly from pulmonary embolism (PE). The first patient was a male diagnosed with PS at 12 years who had varicose veins, portal vein thrombosis, right iliac vein occlusion and recurrent PE. At age 25 years, he was admitted to the hospital with a severe headache. Despite therapeutic doses of warfarin, investigations for an acute episode of breathlessness showed PE and he was unable to be resuscitated. The second case was a 9-year-old male with PS who collapsed at home and could not be revived. Autopsy revealed that the cause of death was a PE associated with thrombosis of the deep veins (DVT). The third patient was a 17-year-old female undergoing inpatient treatment for sinusitis when she unexpectedly arrested. She could not be revived and a full autopsy revealed a large PE with no identified DVT. We conclude that PE is a serious complication of PS and recommend vigilance concerning the signs and symptoms of thrombosis and PE in individuals with PS, including children. Aggressive evaluation and treatment should be considered urgently in patients with PS and signs or symptoms of DVT.
我们报告了3例患有变形综合征（PS）的患者，他们均因肺栓塞（PE）突然死亡。首例患者为男性，12岁时被诊断为PS，患有静脉曲张、门静脉血栓形成、右髂静脉闭塞和复发性PE。25岁时，他因严重头痛入院。尽管使用了治疗剂量的华法林，但对一次急性气短发作的检查显示为PE，且未能成功复苏。第二例是一名9岁患有PS的男性，在家中晕倒后未能苏醒。尸检显示死亡原因是与深静脉血栓形成（DVT）相关的PE。第三例患者是一名17岁女性，因鼻窦炎正在住院治疗时意外心跳骤停。她未能苏醒，全面尸检显示有一个大的PE，未发现DVT。我们得出结论，PE是PS的一种严重并发症，并建议对患有PS的个体，包括儿童，警惕血栓形成和PE的体征和症状。对于有PS且有DVT体征或症状的患者，应紧急考虑积极评估和治疗。
