Schrander-Stumpel Constance Th R M, Curfs Leopold M G, Sastrowijoto Prapto, Cassidy Suzanne B, Schrander Jaap J P, Fryns Jean-Pierre
Research Institute Growth and Development (GROW), Maastricht University, 6202 AZ Maastricht, The Netherlands.
Am J Med Genet A. 2004 Feb 1;124A(4):333-8. doi: 10.1002/ajmg.a.20371.
Prader-Willi syndrome (PWS) is a complex condition with many medical and psychological features. In individuals with this syndrome, causes of death were studied. Data of 27 case reports were collected. Ages at death ranged from neonatal to 68 years. None of the individuals were treated with growth hormone (GH). Most cases were not completely documented and autopsy was performed in a minority of cases only. In five cases, death was considered not to be causally related to PWS. Hypotonia with hypoventilation was noted in the babies, and acute respiratory illness with unexpected sudden death was experienced in young children with PWS. Two young children died after a short period of fever and gastroenteritis. Obesity and its complications leading to death were pronounced in the adult group. One (possibly two) adult(s) died from gastric dilatation and shock. Based on these data, some cautious conclusions can be drawn. In babies with PWS hypoventilation is a risk factor; upper airway infection may be more serious than anticipated and any other clinical features pointing to an infection should be taken very seriously. Therefore, young infants with PWS hospitalized with an upper airway infection and/or hypoventilation or gastroenteritis symptoms, should be closely monitored. Early diagnosis and prevention of overweight is a major factor in preventing early causes of death in individuals with PWS. In the adult group, weight reduction is important but difficult to manage. Sleep apnea should be recognized and treated. Pain in the upper stomach and/or vomiting should be taken as a possible sign of acute intestinal dilatation; intravenous support may be life saving.
普拉德-威利综合征（PWS）是一种具有多种医学和心理特征的复杂病症。对患有该综合征的个体的死因进行了研究。收集了27例病例报告的数据。死亡年龄从新生儿到68岁不等。所有个体均未接受生长激素（GH）治疗。大多数病例记录不完整，仅少数病例进行了尸检。在5例病例中，死亡被认为与PWS无因果关系。婴儿出现肌张力减退伴通气不足，患有PWS的幼儿经历了急性呼吸道疾病并意外猝死。两名幼儿在短时间发热和肠胃炎后死亡。肥胖及其导致的并发症在成人组中导致死亡的情况较为明显。一名（可能两名）成年人死于胃扩张和休克。基于这些数据，可以得出一些谨慎的结论。患有PWS的婴儿通气不足是一个危险因素；上呼吸道感染可能比预期更严重，任何指向感染的其他临床特征都应予以高度重视。因此，因上呼吸道感染和/或通气不足或肠胃炎症状住院的患有PWS的幼儿应密切监测。早期诊断和预防超重是预防PWS患者早期死因的主要因素。在成人组中，减轻体重很重要但难以管理。应识别并治疗睡眠呼吸暂停。上腹部疼痛和/或呕吐应被视为急性肠扩张的可能迹象；静脉支持可能挽救生命。
