无脑回-巨脑回畸形24例患儿临床及脑电图分析  

Analysis of the clinical features and electroencephalogram characteristics in 24 patients with agyria -pachygy- ria

作　　者：兰兴会[1] 蒋莉[1] 胡越[1] 陈锦[1] 徐娜[1] 

机构地区：[1]重庆医科大学附属儿童医院神经内科,400014

出　　处：《中华实用儿科临床杂志》2015年第9期702-706,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的分析总结无脑回-巨脑回畸形患儿的临床表现和脑电图特征，为本病早期诊断和及时治疗提供参考依据。方法回顾性分析2004年7月至2013年7月在重庆医科大学神经内科就诊，经CT或磁共振（MRI）诊断为无脑回-巨脑回畸形患儿24例的临床及脑电图特征，并进行随访。结果24例无脑回-巨脑回畸形患儿中，广泛性无脑回-巨脑回畸形18例，局限性6例。临床表现以精神行为发育迟滞（24例）、运动发育迟缓（24例），癫痫（18例）为主。24例患儿脑电图均异常。主要表现为3种模式：Ⅰ型：全脑广泛性分布或者以额中央区、顶枕区为著高波幅α样或β样节律（14例）；Ⅱ型：广泛性高幅5～7Hz慢尖节律阵发（7例）；Ⅲ型：广泛性或多灶性高波幅尖／棘波或尖／棘-慢波与δ、θ波混合图形（12例）。9例患者在-次脑电图检测中可呈现2～3种异常模式。本组病例经过1—8年随访，广泛性无脑回-巨脑回畸形引起癫痫发作的13例患儿中，药物难治性癫痫12例，主要为婴儿痉挛症和LGS综合征；局限性无脑回-巨脑回畸形引起癫痫发作的5例患儿中，药物难治性癫痫1例，为部分继发全面性发作。两者差异有统计学意义（P=0．008）。中、重度智力及运动功能障碍20例，其中18例为广泛性无脑回-巨脑回畸形患者，2例为局限性无脑回-巨脑回畸形患者。两者比较差异有统计学意义（P=0．005）。结论无脑回-巨脑回是-种神经元移行异常所造成的大脑发育畸形，广泛性无脑回-巨脑回畸形临床表现严重，预后较差。局限性无脑回-巨脑回畸形智力及运动损伤相对较轻，癫痫发作可以通过抗癫痫药物或癫痫外科手术得到基本控制。特征性脑电图改变结合临床表现为早期诊断、及时治疗及预后判断提供重要参考依据。Objective To analyze the clinical manifestations and electroencephalogram （EEG）characteristics of agyria - pachygyria for its early diagnosis, treatment and prognosis judgment in clinical practice. Methods The cli- nical manifestations and EEG features of twenty - four patients with agyria - pachygyria who were diagnosed by CT or magnetic resonance imaging（MRI） at Pediatric Neurology of Children＇s Hospital of Chongqing Medical University from July 2004 to July 2013 were retrospectively analyzed. Results Of twenty - four patients, eighteen cases were diagnosed as diffuse agyria - pachygyria and six cases were diagnosed as partial agyria - pachygyria. The clinical features were mainly manifested as mental retardation （ twenty - four patients）, and motor retardation （ twenty - four patients）, and epilepsy （ eighteen patients）. All of the twenty - four patients had abnormal EEG pattern which were mainly three tapes. Type Ⅰ had diffused high amplitude alpha and beta activity in all cortical regions, frontal - central, or parietal - occipital region （fourteen patients）. Type Ⅱ showed alternating high amplitude bursts with sharp and slow waves （ seven patients）. Type Ⅲ was characterized by high amplitude spike or sharp wave activity generalized or muhifocal distribution and δ,θ wave mixing graphics （ twelve patients）. Nine of twenty - four patients showed two or three EEG characteristic patterns in an awake - asleep EEG recording. During the follow - up of 1 - 8 years old, twelve of the thir- teen patients who were diagnosed as epilepsy in diffuse agyria - pachygyria had refractory epilepsy, mainly with infantile spasms or Lennox - Gastaut syndrome. One of the five patients who was diagnosed as epilepsy in focal agyria - pachy- gyria had refractory epilepsy, mainly for partial epilepsy secondary generalized seizures. There was a significant diffe- rence between them （P = 0. 008 ）. Eighteen of twenty patients who had moderate - severe mental retardation or dyskine- sia were d

关 键 词：无脑回-巨脑回畸形 临床表现 脑电图特征 

分 类 号：R742.8[医药卫生—神经病学与精神病学]