Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
Marcos Manoel Honorato1,2, Adriane Cristina Vieira Dos Santos2, Felipe Luan Lima da Silva2
1Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo-SP, Brazil.
Abstract:
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.
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