摘要
目的分析伴有癫痫发作的结节性硬化症(tuberous sclerosis complex,TSC)患者的临床特点。方法采用回顾性分析方法,总结了85例伴有癫痫发作的TSC患者的资料进行分析。结果伴有癫痫发作的TSC患者男∶女接近2∶1,有TSC家族史14人(17%)。癫痫的发病年龄从10d～22岁不等,25%TSC患者在1岁以内发病,66%在3岁以内发病。53%的患者首次发作表现为全身强直阵挛发作(GTCS),40%为部分性发作,5例(6%)患者有癫痫性痉挛发作。在所有入选患者中,38例(45%)患者有明确的智能障碍,在发病年龄小于1岁的患者中,71%有明确的智能障碍,临床发作仅有GTCS患者中,50%有明确的智能障碍,有癫痫性痉挛发作的患者80%有明确的智能障碍。家族性TSC及散发性TSC患者在临床表现上无明显差异。63/65例患者行头部CT发现室管膜下或/和脑叶钙化灶,75/78例患者行头部MRI检查发现大脑半球皮层下及室管膜下均见多发性结节影,6例合并室管膜下巨细胞型星形细胞瘤(7%)。54/80例患者脑电图提示痫样波局限于一侧。结论发病年龄小于1岁、临床仅有GTCS发作及既往有癫痫性痉挛发作的患者更容易出现智能障碍,大脑半球皮层下及室管膜下多发结节或钙化有助于TSC的诊断。
Objective To analyze the clinical features of the patients with seizure secondary to tuberous sclerosis complex（TSC）.Methods We retrospectively reviewed the clinical data of 85 patients with seizure secondary to tuberous sclerosis complex.Results The male-to-female ratio was close to 2∶1 in TSC patients with seizures,and 14 of 85 patients（17%） had a family history of TSC.The age of seizure onset was ranged from 10 days to 22 years.The onset age was less than 1 year in 25% and less than 3 years in 66% of all TSC patients.The first seizure patterns were generalized tonic-clonic seizures（GTCS） in 53% and partial seizures in 40% of the patients.5 patients（6%） presented epileptic spasms.38（45%） of all enrolled patients had a definite mental retardation.In the incidence of patients younger than 1 year,71% had a definite mental retardation.In the patients with only GTCS,50% had a definite mental retardation.80% of patients with epileptic spasms had a definite mental retardation.Familial TSC and sporadic TSC patients had no significant difference in clinical performance.63/65 patients underwent cranial CT and found ependymal or/and brain lobes calcifications.75/78 cases underwent cranial MRI and revealed cerebral hemisphere subcortical and subependymal multiple nodules.Six cases presented ependymal giant cell astrocytoma tumor（7%）.54/80 patients＇s epileptiform in EEG limited to one.Conclusion The patients whose age of onset less than 1 year old,seizure pattern limiting to GTCS and with a history of epileptic spasms are more prone to mental retardation.Cerebral hemisphere cortex and subependymal multiple nodules or calcification contribute to the diagnosis of TSC.
出处
《中风与神经疾病杂志》
CAS
CSCD
北大核心
2012年第10期920-923,共4页
Journal of Apoplexy and Nervous Diseases
关键词
结节性硬化症
癫痫
临床特点
智能障碍
Tuberous sclerosis complex
Epilepsy
Clinical features
Mental retardation
