Honorato Marcos Manoel, Santos Adriane Cristina Vieira Dos, da Silva Felipe Luan Lima, Cremaschi Renata Carvalho, Coelho Fernando Morgadinho
Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), São Paulo-SP, Brazil.
Department of Integrated Health, State University of Pará, Santarém-PA, Brazil.
J Neurosci Rural Pract. 2022 Mar 8;13(2):348-350. doi: 10.1055/s-0042-1743457. eCollection 2022 Apr.
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.
我们的研究报告了两名患有迟发性Lennox-Gastaut综合征和15号染色体q重复的非双胞胎姐妹，展示了这些患者的病情发展、症状、诊断和治疗情况，旨在增进对这种极其罕见关联的了解。她们有多种全身性癫痫发作类型、智力残疾、脑电图显示小于3赫兹的全身性癫痫样放电、畸形，以及存在15号染色体重复的基因研究结果。此处报告的病例可能与从无症状母亲遗传而来的染色体变化有关。
