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

J Neurosci Rural Pract. 2022 Mar 8;13(2):348-350. doi: 10.1055/s-0042-1743457. eCollection 2022 Apr.

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.

Keywords: 15q duplication syndrome; Lennox-Gastaut syndrome; epilepsy; genetic.

Publication types

  • Case Reports

Grants and funding

Funding None.