McSweeney, N; Cowan, F; Manzur, A; Robb, S; Muntoni, F; (2009) Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome. EUR J PAEDIATR NEURO , 13 (4) 350 - 355. 10.1016/j.ejpn.2008.07.001.
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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. (C) 2008 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
|Title:||Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome|
|Keywords:||Prader Willi Syndrome, Dyskinesia, NEONATAL PRESENTATION, 1ST YEAR, PATHOPHYSIOLOGY, ABNORMALITIES, DIAGNOSIS, PHENOTYPE, DYSTONIA|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health > Department of Neurosciences and Mental Health > ICH - Dubowitz Neuromuscular Centre|
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