Familial epilepsy with unilateral and bilateral malformations of cortical development
Familial epilepsy with unilateral and bilateral malformations of cortical development
复制标题
DOI：
10.1111/j.1528-1157.1999.tb01987.x
复制
发表时间：
1999-01-01
期刊：
影响因子：
5.6
通讯作者：
Guerrini, R
中科院分区：
文献类型：
--
作者：
Bartolomei, F;Gavaret, M;Guerrini, R
目的：描述一个家族，其中两姐妹篇分别患有癫痫、智力低下和小头畸形，经磁共振成像（MRI）检查发现其大脑皮层发育异常。高分辨率MRI，认知测试，并重复EEG记录在两个patients.Results：在一个病人中，畸形是双边和弥漫性的，但更明显的顶叶和枕叶区域，MRI特征表明厚脑回多小脑回。在另一个病人中，异常涉及右半球，主要在外侧裂周围区域，MRI更清楚地指示多微脑回。一个兄弟也有严重的癫痫，弥漫性脑电图异常，精神发育迟滞，和小头畸形，但不能研究neuroradiologically.Conclusions：缺乏MRI研究的父母和兄弟不允许一个精确的假设的传输模式。然而，从这个家庭的研究结果表明，在癫痫发作后的调查过程中检测到的皮质发育的单侧畸形可能是基于遗传的，这表明一个单一的遗传异常可能是负责双边或单边畸形。
Purpose: To describe a family in whom two sisters with epilepsy, mental retardation, and microcephaly had different malformations of cortical development detected by magnetic resonance imaging (MRI).Methods: Clinical investigation of the patients and their family. High-resolution MRI, cognitive testing, and repeated EEG recording in both patients.Results: In one patient, the malformation was bilateral and diffuse but much more pronounced in the parietal and occipital regions, with MRI characteristics indicating pachygyria-polymicrogyria. In the other patient, the abnormality involved the right hemisphere, predominating around the perisylvian region, with MRI more clearly indicative of polymicrogyria. A brother also had severe epilepsy, diffuse EEG abnormalities, mental retardation, and microcephaly, but could not be studied neuroradiologically.Conclusions: Lack of MRI studies in the parents and brother does not allow a precise hypothesis on the mode of transmission. However, findings from this family indicate that unilateral malformations of cortical development detected during investigations after seizure onset may be genetically based, suggesting that a single genetic abnormality could be responsible for bilateral or unilateral malformations.