PDF(Pubmed)
Abstract：
Prader-Willi syndrome (PWS) is an exceedingly rare congenital syndrome of chromosome 15 that presents multiple comorbidities in said individuals. The associated quality of life for those with the disease is often severely diminished; more tragically, mortality associated with the disease is also increased. Pulmonary embolism (PE) is highly associated with mortality and has been shown to be more prevalent in patients with PWS. This case report details a patient with PWS who survived an acute saddle PE and looks to bring more clinical knowledge that can be applied when dealing with individuals with PWS.
摘要：
Prader-Willi综合征（PWS）是一种极为罕见的15号染色体先天性综合征，在所述个体中表现出多种合并症。患有这种疾病的人的相关生活质量往往严重下降；更悲惨的是，与该疾病相关的死亡率也增加。肺栓塞（PE）与死亡率高度相关，并且已被证明在PWS患者中更为普遍。此病例报告详细介绍了一名PWS患者，该患者在急性鞍状PE中幸存下来，并希望带来更多临床知识，可在与PWS患者打交道时应用。
