摘要目的 观察皮质下多灶状巨大灰质异位的临床病理学特点,并结合文献探讨其可能的发生机制.方法 对首都医科大学宣武医院功能神经外科2014年1月至2017年10月期间手术切除的难治性癫痫病例共计3000例中5例经病理确诊为皮质下多灶状巨大灰质异位的病例进行回顾性总结,分析其临床、影像学特征及病理学特点,并结合相关文献复习.结果 5例患者中3例男性,2例女性.年龄20～39岁,平均年龄28.6岁.5例患者均以发作性意识丧失为主要临床表现,病程7～21年,平均病程15.4年.影像学提示颞叶单独受累者2例,顶叶单独受累者1例,颞叶及枕叶同时受累者1例,颞叶及顶叶同时受累者1例.病理检查均可见病变区域脑回结构异常,大脑皮质及白质构筑紊乱,皮质下及深部白质可见多量大小不一、形态不规则的团块状灰质结构,其间可见胶质细胞增生;免疫组织化学提示,在异位的灰质团块中,可见不同成熟阶段的神经元.1例患者同时伴有软脑膜下、脑室旁灰质异位及多小脑回形成,另有3例患者分别伴有多小脑回形成(2例)或海马硬化(1例)的病理表现.5例患者经手术治疗后均未见癫痫发作.结论 灰质异位是一组神经元迁移障碍导致的皮质发育畸形,这一组疾病中神经元可以沉积在脑室至软脑膜之间的任何区域.广泛异常神经元迁移所导致的多灶状巨大灰质异位,特别是同时伴有多小脑回形成等其他皮质发育畸形者十分罕见.尽管如此,其临床表现仍相对单一,经由手术完整切除后,预后良好.

abstractsObjective To investigate the clinicpathologic features and probable mechanisms of massive subcortical heterotopia. Methods Clinical data, histologic features and neuropathologic data were analyzed in five cases of massive subcortical heterotopia collected from Xuanwu Hospital, Capital Medical University from January 2014 to October 2017. Results All five patients ( three males and two females ) had a history of refractory epilepsy with a mean period of 15. 4 years ( range 7 to 21 years) . The median age at surgery was 28. 6 years( range 20 to 39 years) . Magnetic resonance imaging showed that the lesions were located in the temporal lobe ( two cases) , parietal lobe ( one case) , both temporal and occipital lobes ( one case) and both temporal and parietal lobes (one case). Pathologic examination disclosed that massive gray matter in subcortical and deep white matter with various shape and size. Moreover, one case also showed subpial and periventricular heterotopias and polymicrogyria. Polymicrogyria or hippocampal sclerosis were seen in the remaining three cases. None of the five patients experienced seizure attacks during the follow-up period. Conclusions Heterotopia is malformations due to abnormal neuronal migration. Massive subcortical heterotopia due to widespread abnormal neuronal migration is relatively rare. The mechanism of heterotopia together with polymicrogyria needs further discussion.