成人期确诊的Prader-Willi综合征一例病例报告

Prader-Willi syndrome diagnosed in adulthood: A case report

本文报道1例成人期确诊的Prader-Willi综合征(PWS)病例。PWS作为一种罕见的遗传性疾病,国内外已报道病例大多数确诊于婴幼儿期、儿童期,于成人期确诊的病例少见报道。本例患者婴幼儿期症状隐匿,成年后因糖尿病、月经紊乱就诊,经基因检测后确诊为PWS。本文侧重于分析该患者成年后临床表现,并复习相关文献,以提高对该病的认识。

This article reports a case of Prader-Willi syndrome(PWS)diagnosed in adulthood.PWS is a rare genetic disease with most of the reported cases being diagnosed in infancy and childhood,and adulthood case is rarely reported.The patient had insidious symptoms in infancy and was diagnosed as PWS using genetic test in adulthood due to diabetes and menstrual disorders.This article focuses on the patient′s clinical manifestations in adulthood,and reviews relevant literature to improve the understanding of the disease.