Lv Bin, Zhou Yushan, Zeng Jianguang, Wang Ling, Zhao Fumin, Chen Huizhu, Li Xuesheng, Song Yu, Xiao Mei, Ding Zhiyong, Cheng Bochao
Department of Gynecology and Obstetrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Department of Nuclear Medicine, West China Hospital of Sichuan University, Chengdu, China.
Front Neurosci. 2022 Jul 27;16:956545. doi: 10.3389/fnins.2022.956545. eCollection 2022.
Subependymal heterotopia (SEH) is a rare neuronal migration disorder consisting of gray matter nodules along the lateral ventricular walls and is often associated with other brain malformations. Despite most SEH cases showing epilepsy during their lifetimes, very few patients with asymptomatically familial SEH tend to cause misdiagnosis or missed diagnosis. We present four familial SEH cases without any positive symptoms and medical history, including two fetuses, who were diagnosed by MRI and confirmed by genetic testing with mutation of filamin A. This report emphasizes the role of MRI in the recognition of SEH at an early age of gestation and in asymptomatically familial SEH. MRI provides a fast, repeatable, reliable, and cheap choice for detecting and screening familial SEH.
室管膜下异位（SEH）是一种罕见的神经元迁移障碍，表现为沿侧脑室壁的灰质结节，常与其他脑畸形相关。尽管大多数SEH病例在其一生中会出现癫痫发作，但无症状的家族性SEH患者很少，容易导致误诊或漏诊。我们报告了4例无任何阳性症状和病史的家族性SEH病例，其中包括2例胎儿，通过MRI诊断并经基因检测确认存在细丝蛋白A突变。本报告强调了MRI在妊娠早期识别SEH以及无症状家族性SEH中的作用。MRI为检测和筛查家族性SEH提供了一种快速、可重复、可靠且廉价的选择。
