title: Perinatal dyskinesia as a presenting feature in Prader Willi syndrome.
abstract: 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.
authors: The Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial NHS Trust, Imperial College, London UK.
authors: Niamh
authors: N
authors: McSweeney
authors: Frances
authors: F
authors: Cowan
authors: Adnan
authors: A
authors: Manzur
authors: Stephanie
authors: S
authors: Robb
authors: Francesco
authors: F
authors: Muntoni
mesh_terms: D020820:Dyskinesias / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000175:diagnosis*