摘要
目的 研究结节性硬化的临床特点、神经影像学表现和病理学及免疫组织化学特点.方法 对2008-2011年在清华大学玉泉医院癫痫中心接受致痫病灶外科手术切除治疗且临床病理诊断为结节性硬化的难治性癫痫患者临床病理学资料进行回顾性分析.结果 9例患者,男性7例,女性2例,癫痫平均发病年龄2.2岁,平均病程5.9年.CT表现为脑内多发点状钙化.MRI见脑内多发片状稍长T1、稍长T2信号影.镜下可见神经元排列结构紊乱,6层结构消失,可见气球样细胞伴或不伴形态异常神经元.免疫组织化学染色示形态异常神经元SMI32R强阳性、部分神经丝蛋白阳性;大部分气球样细胞巢蛋白、波形蛋白阳性,偶见CD34阳性.术后随访,Engel Ⅰ级7例,Engel Ⅱ级2例.结论 结节性硬化的病理诊断需要结合临床及影像学资料.怀疑结节性硬化的标本中用巢蛋白、波形蛋白、SMI32R、胶质纤维酸性蛋白等免疫组织化学可以辅助诊断.结节性硬化导致的难治性癫痫患者手术治疗如能完全切除癫痫责任灶,则效果较好.
Objective To investigate the clinical pathologic （including immunohistochemical） features of the brain tissue in tuberous sclerosis. Methods The patients with refractory epilepsy underwent brain surgery procedure with pathologically confirmed tuberous sclerosis complex （TSC） in Yuquan Hospital from 2008--2011 were studied retrospectively. Results Nine patients including 7 males and 2 females had medically intractable seizures. The average age of onset was 2.2-years-old and the duration was 5.9 years. Brain CT images showed multiple calcification and MRI images found multiple high signal areas of long T1 and long T2 weighted sequence. Histologically, all cases were characterized by cortical destruction with the hallmark of balloon cells and （or） dysmorphic neurons. By immunostaining, the neurons with destructed morphology showed accumulation of SMI32R and Neurofilament proteins. Balloon cells were stained positive with nestin and vimentin. CD34 was also detectable in few balloon cells. Postsurgical seizure freedom was achieved in all cases ： Engel class I in 7 patients, and Engel class l] in 2 patients. Conclusions TSC is diagnosed on the basis of clinical and neuroimaging information, as well as pathological changes. Immunohistochemistry, such as nestin, vimentin, SMI32R and glial fibrillary acidic portein staining can be helpful in the diagnosis of TSC. Surgical procedure for TSC with completed removal of the lesion foci is an effective therapy to treat patients with intractable epilepsy.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2014年第3期149-152,共4页
Chinese Journal of Neurology
