John Libbey Eurotext

Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication Volume 14, issue 2, June 2012


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Neurology Department of Hospital de Braga, Psychiatry Department of Hospital de São João, Porto, Department of Medical Genetics of Hospital Pediátrico Carmona da Mota, Coimbra, Faculty of Medicine, University of Porto/Human Genetics Department, Hospital São João, Porto, Neurophysiology Department of Hospital de São João, Porto, Neurology Department of Hospital de São João, Porto, Portugal

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome.