McSweeney Niamh, Cowan Frances, Manzur Adnan, Robb Stephanie, Muntoni Francesco
The Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial NHS Trust, Imperial College, London UK.
Eur J Paediatr Neurol. 2009 Jul;13(4):350-5. doi: 10.1016/j.ejpn.2008.07.001. Epub 2008 Aug 21.
Prader Willi Syndrome (PWS) is a complex genetic disorder. Infants present with hypotonia and feeding difficulties, usually without respiratory symptoms, but with distinctive facial features. Early neonatal diagnosis can however be difficult in children with only subtle distinctive appearances or with atypical clinical signs, leading to a significant delay in the diagnosis. To highlight the diagnostic difficulties we reviewed our experience of infants with PWS referred to our tertiary centre. We describe 14 patients, 10 of whom presented in the neonatal period. All had axial hypotonia, and poor feeding. Twelve had a paucity of movement, 11 had distinctive features and 10 had a reduced level of alertness in the neonatal period. In addition to these typical features, four patients had prominent limb dyskinesia, which has only been reported once before in infants with PWS. We draw attention to this relatively common but poorly acknowledged sign that can be seen at presentation of PWS.
普拉德-威利综合征（PWS）是一种复杂的遗传性疾病。婴儿表现为肌张力减退和喂养困难，通常无呼吸道症状，但有独特的面部特征。然而，对于仅有细微独特外观或非典型临床体征的儿童，早期新生儿诊断可能困难，导致诊断显著延迟。为突出诊断困难，我们回顾了转诊至我们三级中心的PWS婴儿的诊疗经验。我们描述了14例患者，其中10例在新生儿期就诊。所有患者均有轴向肌张力减退和喂养困难。12例活动减少，11例有独特特征，10例在新生儿期警觉性降低。除这些典型特征外，4例患者有明显的肢体运动障碍，这在PWS婴儿中此前仅被报道过一次。我们提请注意这种在PWS患者就诊时可见的相对常见但未得到充分认识的体征。
