Cargando…

Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters

Our study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized sei...

Descripción completa

Detalles Bibliográficos
Autores principales: Honorato, Marcos Manoel, Santos, Adriane Cristina Vieira dos, da Silva, Felipe Luan Lima, Cremaschi, Renata Carvalho, Coelho, Fernando Morgadinho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Thieme Medical and Scientific Publishers Pvt. Ltd. 2022
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9187365/
https://www.ncbi.nlm.nih.gov/pubmed/35694068
http://dx.doi.org/10.1055/s-0042-1743457
Descripción
Sumario:Our study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized seizures types, intellectual disability, electroencephalogram with generalized epileptiform discharges less than 3 Hz, dysmorphisms, and genetic studies with the presence of duplicated chromosome 15. Cases reported here may be related to chromosomal changes inherited from their asymptomatic mother.