Abstract：
Due to its rare nature and subtle dysmorphisms, Prader-Willi syndrome can be challenging to recognize and diagnose in the neonatal period. Feeding difficulties and hypotonia (\'floppy infant\') are the most striking characteristics. Prader-Willi syndrome requires specific follow-up and treatment, emphasizing the importance of early recognition.We encountered an infant of three months old with severe hypotonia. The hypotonia ameliorated spontaneously over time, although feeding per nasogastric tube was necessary. There were no apparent dysmorphisms. Extensive genetic investigations showed a maternal uniparental disomy of chromosome 15, fitting with Prader-Willi syndrome explaining all symptoms. After excluding contraindications, treatment with growth hormone therapy was started. Parents were educated regarding medical emergencies specific for Prader-Willi syndrome (\'medical alerts\'). Although Prader-Willi syndrome is rare, it should always be considered in cases of neonatal hypotonia. Early recognition is paramount as specific recommendations and treatment are warranted.
摘要：
由于其罕见的性质和微妙的畸形，Prader-Willi综合征在新生儿期的识别和诊断可能具有挑战性。喂养困难和低张力（\'松软的婴儿\'）是最显著的特征。Prader-Willi综合征需要特定的随访和治疗,强调早期识别的重要性。我们遇到了一个三个月大的婴儿，患有严重的张力减退。随着时间的推移，张力减退自发改善，虽然每个鼻胃管喂养是必要的。没有明显的畸形。广泛的遗传调查显示，母亲对15号染色体的单亲二分体，符合解释所有症状的Prader-Willi综合征。排除禁忌症后，开始用生长激素治疗.对父母进行了有关Prader-Willi综合征特定的医疗紧急情况的教育（“医疗警报”）。虽然Prader-Willi综合征很少见,在新生儿张力减退的情况下，应始终考虑它。早期认识至关重要，因为需要具体的建议和治疗。
