Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

• Autor(es): Rocha, J ; Guerra, C ; Oliveira, R ; Dória, S ; Rego, R ; Rosas, MJ
• Data: 2012
• Identificador Persistente: http://hdl.handle.net/10400.23/545
• Origem: Repositório Científico do Hospital de Braga
• Assunto(s): Duplicação Cromossómica; Cromossoma Humano Par 15; Deficiência Intelectual; Espasmos Infantis
• Tipo de Documento: Artigo
• Idioma: Inglês

Descrição

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.