儿童结节性硬化致难治性癫痫12例临床病理特点

Clinical and pathological characteristics of 12 cases of epilepsy in children with tuberous sclerosis complex

目的:分析并比较因难治性癫痫接受外科手术的12例结节性硬化(tuberous sclerosis complex,TSC)患儿的临床病理学特点。方法:对2011—2016年在北京市海淀医院功能神经科接受癫痫外科手术治疗的12例TSC患儿的临床资料及病理资料进行回顾性分析。结果:12例患儿中男童8例,女童4例,发病年龄0.5~9(平均3.28)岁;病程4个月~10年,平均5.32年。手术年龄3~13(平均8.42)岁。病理学检查可见病变多发,可局限于单一脑叶也可广泛累及双侧大脑半球;皮层结构紊乱,有巨大神经元及形态异常神经元,可见气球样细胞。术后随访3个月~3年,EngelⅠ级4例(33.3%),EngelⅡ级2例(16.7%),EngelⅢ级5例(41.7%),失访1例(8.3%)。结论:TSC患儿癫痫发病早,病程长,病变脑组织病理特征明确,外科手术后疗效与病变范围有一定相关性;双侧大脑半球多发病灶者术后疗效较差。

Objective：To study the clinicopathologic features of tuberous sclerosis complex（TSC） occurring in children with medically intractable epilepsy.Methods：The clinical,radiologic and pathologic features of tuberous sclerosis complex occurring in 12 children with intractable epilepsy encountered during the period from 2011 to 2016 in the Epilepsy Center of Haidian Hospital were retrospectively reviewed.Results：All patients including 8 boys and 4 girls had medically intractable seizures.The mean age of seizure onset and disease duration were 3.28 years and 5.32 years respectively.Multiple lesions were existed in single lobe or bilateral cerebral hemisphere.Giant neuron,dysmorphic neurons and balloon cells were pathological characteristic.Seizure outcome after the epilepsy operation revealed 4 children（33.3%） had an Engel grade Ⅰ,2 kids（16.7%） had an Engel grade Ⅱ,5 children（41.7%） had an Engel grade Ⅲ,and 1 patient（8.3%） was lost.Conclusion：The children with refractory epilepsy suffered the onset of the disease early and long duration of the disease.Lesion of brain tissue has pathological characteristics.There was a certain correlation between the effect of surgery and the range of the lesion.The effect of surgery was poor in children with extensive lesions.