- 期刊
Early Diagnosis of Prader-Willi Syndrome in A Newborn
在一新生兒早期診斷之普瑞德－威利氏症候群
摘要
普瑞德－威利氏症候群是一影響身體多種器官系統，臨床症狀和下視丘功能不良有關的複雜疾病。主要特徵包括出生時肌肉張力不足、身材矮小、發展遲緩、智能不足、行爲異常、肥胖、外陰部發育不良和典型的臉部特徵。肥胖和行爲異常是造成將來罹病及死亡的主要原因。 我們報告一個兩天大的男嬰，入院時以肌肉張力不足表現。雖然沒有典型的外觀特徵，後來在一週大時經由確定在第十五對染色體SNEPN基因上有不正常的去氧核糖核酸甲基化現象而診斷是普瑞德－威利氏症候群。普瑞德－威利氏症候群目前已經有染色體基因的診斷方法，讓我們可以在新生兒時期早期偵測而採取適當的治療。因此在發現原因不明的低肌張力新生兒時，雖然沒有典型的外觀特徵，仍要考慮做分子生物的相關檢查。
並列摘要
Prader-Willi syndrome (PWS) is a multiple-systemic disorder with many manifestations related to hypothalamic insufficiency, with obesity and behavioral problems as the major causes of morbidity and mortality. We describe a 2-day-old boy who initially presented with neonatal hypotonia and was diagnosed as PWS based on abnormal DNA methylation patterns in the small nuclear ribonucleoprotein polypeptide N (SNRPN) gene at the age of one week, despite the absence of other classical features. Molecular diagnosis for PWS, which has become available in recent years, should be considered for neonates with undiagnosed central hypotonia.