Perisylvian polymicrogyria,infantile spasms and arthrogryposis: The severe end of the spectrum of congenital bilateral perisylvian polymicrogyria |
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| Authors: | Anja De Coene Rudy Van Coster Helene Verhelst |
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| Institution: | 1. Department of Clinical Neurophysiology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan;2. Department of Neurology, Minkodo Minohara Hospital, Fukuoka, Japan;3. Department of Child and Adolescent Mental Health, National Institute of Mental Health, National Center of Neurology and Psychiatry, Tokyo, Japan;4. Department of Neuropsychology, Graduate School of Medicine, University of Toyama, Toyama, Japan;1. Centre for Medical Research, The University of Western Australia and Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia;2. Institut für Klinische Genetik, Medizinische Fakultät Carl Gustav Carus, TU Dresden, Dresden, Germany;3. Institut und Poliklinik für Radiologische Diagnostik, Universitätsklinikum Dresden, Dresden, Germany;4. Department of Diagnostic Genomics, Pathwest, Nedlands, Western Australia, Australia;5. John Hunter Children''s Hospital, Hunter Valley, New South Wales, Australia;6. Genetic Health Services, Auckland, New Zealand;7. Medizinisch Genetisches Zentrum, Munich, Germany;8. Seattle Children''s Research Institute, Seattle, WA, USA;1. Department of Pediatric Neurology, Université Paris Descartes; Imaging Institute; INSERM U781, Paris, France;2. Pediatric Neurology Unit and Laboratories, Children''s Hospital A. Meyer – University of Florence, Florence, Italy |
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| Abstract: | Congenital bilateral perisylvian polymicrogyria (CBPP) is the most frequent type of polymicrogyria in children. A 3-month-old male patient is described here with the combination of CBPP, infantile spasms and arthrogryposis. Only four patients have been reported earlier in the literature with this combination. Three of them had epilepsy. These patients represent the more severe phenotype of CBPP, characterized by early onset of symptoms, epilepsy, mental retardation, pseudobulbar palsy and arthrogryposis. |
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