Perinatal dyskinesia as a presenting feature in Prader Willi Syndrome |
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| Authors: | Niamh McSweeney Frances Cowan Adnan Manzur Stephanie Robb Francesco Muntoni |
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| Affiliation: | 1. The Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial NHS Trust, Imperial College, London UK;2. The Perinatal Neurology Unit, Department of Paediatrics, Hammersmith Hospital, Imperial NHS Trust, Imperial College, London UK;3. UCL Institute of Child Health & Great Ormond Street Hospital for Children, London, UK;1. Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan;2. Department of Obstetrics and Gynecology, Buddhist Tzu-Chi General Hospital, Taipei, Taiwan;2. Departments of Pediatrics and Neurology/Neurosurgery, McGill University, Montreal, Quebec, Canada;1. Department of Paediatric Surgery and Department of Paediatrics, Monash University, Monash Children''s Hospital, Melbourne, Australia;2. Department of General Surgery, Monash Children’s Hospital and Department of Paediatrics, Monash University, Melbourne, Australia;3. Department of Paediatric Urology, Royal Children''s Hospital, Melbourne, Australia;4. Murdoch Children''s Research Institute, Royal Children''s Hospital, Melbourne, Australia;5. Developmental Medicine, Royal Children''s Hospital, Melbourne, Australia;2. Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy |
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| 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. |
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