Department of Neurology, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Department of Laboratory Medicine, Haeundae Paik Hospital, Inje University College of Medicine, Busan, Republic of Korea.
Clin Neurol Neurosurg. 2020 Oct;197:106182. doi: 10.1016/j.clineuro.2020.106182. Epub 2020 Aug 25.
A 62-year-old man without relevant medical history visited our emergency department with seizure. His brain MRI revealed diffuse high signal intensity in the white matter with some cortical involvement in the dorsolateral prefrontal area and middle frontal gyrus on FLAIR sequence, which were only confined to the left hemisphere. In his whole exome sequencing, a hemizygous variant, NM_001185081.1:c.1216C>T, was detected on FMR1 gene of Xq27.3, which creates a stop codon at codon 406 in exon 13. The variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. This is the first case report of the patient presenting with seizure, who had a pathogenic variant on FMR1 gene with diffuse cerebral white matter involvements in the unilateral hemisphere.
一位 62 岁的男性，无相关病史，因癫痫发作到我院急诊就诊。他的脑部 MRI 显示 FLAIR 序列上左侧大脑半球额上回和额中回背外侧皮质及脑白质弥散性高信号，仅局限于左侧半球。全外显子测序显示 Xq27.3 上 FMR1 基因存在半合子变异 NM_001185081.1:c.1216C>T，该变异在第 13 外显子 406 密码子处产生终止密码子。根据 ACMG/AMP 指南的推荐，该变异被分类为致病性变异。这是首例表现为癫痫发作，FMR1 基因致病性变异，单侧大脑半球脑白质弥漫受累的患者。
