PDF(Pubmed)
Abstract：
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3. We report a case in which postnatal neuroimaging revealed severe lissencephaly. A 9-month-old boy presented with infantile spasms syndrome. Because of the refractory course of seizures and continued poor vitality, total corpus callosotomy was performed at 28 months of age. Intraoperative electroencephalogram (EEG) showed that the bilateral synchronous epileptiform discharges disappeared immediately after the disconnection. Postoperatively, the epileptic spasms (ES) in clusters disappeared, and single ES followed by focal seizures became the main symptom. The patient smiled more and became more responsive to stimuli. Postoperative scalp interictal EEG showed desynchronized multifocal spike and wave discharges with a marked decrease in the bilateral synchronous spike and wave discharges. Our findings suggest that the corpus callosum is involved in the mechanism ES in clusters in MDS-associated lissencephaly, and total callosotomy could be a therapeutic option.
摘要：
Miller-Dieker综合征（MDS）的特征是面部异常和无脑畸形，是由染色体17p13.3上包含LIS1基因的区域中的微缺失引起的。我们报告了一例产后神经影像学检查显示严重的间脑畸形。一个9个月大的男孩出现了婴儿痉挛综合征。由于癫痫发作难愈，生命力持续不佳，在28月龄时进行了全骨体切开术.术中脑电图（EEG）显示，断开后双侧同步癫痫样放电立即消失。术后,集群中的癫痫性痉挛（ES）消失了，单发ES和局灶性癫痫发作成为主要症状。病人笑得更多，对刺激反应更灵敏。术后头皮发作间脑电图显示不同步的多灶性尖峰和波放电，双侧同步尖峰和波放电显着减少。我们的发现表明，call体参与MDS相关的小脑中集群的ES机制，和全call切开术可能是一种治疗选择。
